PubMed:15064320 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"15064320_0","span":{"begin":971,"end":1004},"obj":"ProteinMutation"},{"id":"15064320_1","span":{"begin":1006,"end":1011},"obj":"ProteinMutation"},{"id":"15064320_2","span":{"begin":1203,"end":1208},"obj":"ProteinMutation"}],"attributes":[{"id":"15064320_0_ProteinMutation","pred":"proteinmutation","subj":"15064320_0","obj":"rs9332964"},{"id":"15064320_1_ProteinMutation","pred":"proteinmutation","subj":"15064320_1","obj":"rs9332964"},{"id":"15064320_2_ProteinMutation","pred":"proteinmutation","subj":"15064320_2","obj":"rs9332964"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-entities","denotations":[{"id":"620","span":{"begin":39,"end":45},"obj":"GeneOrGeneProduct"},{"id":"621","span":{"begin":63,"end":87},"obj":"DiseaseOrPhenotypicFeature"},{"id":"622","span":{"begin":88,"end":95},"obj":"OrganismTaxon"},{"id":"623","span":{"begin":153,"end":177},"obj":"GeneOrGeneProduct"},{"id":"624","span":{"begin":184,"end":190},"obj":"GeneOrGeneProduct"},{"id":"625","span":{"begin":206,"end":230},"obj":"DiseaseOrPhenotypicFeature"},{"id":"626","span":{"begin":232,"end":235},"obj":"DiseaseOrPhenotypicFeature"},{"id":"627","span":{"begin":237,"end":244},"obj":"OrganismTaxon"},{"id":"628","span":{"begin":257,"end":269},"obj":"ChemicalEntity"},{"id":"629","span":{"begin":271,"end":272},"obj":"ChemicalEntity"},{"id":"630","span":{"begin":296,"end":313},"obj":"GeneOrGeneProduct"},{"id":"631","span":{"begin":315,"end":317},"obj":"GeneOrGeneProduct"},{"id":"632","span":{"begin":344,"end":351},"obj":"OrganismTaxon"},{"id":"633","span":{"begin":439,"end":440},"obj":"ChemicalEntity"},{"id":"634","span":{"begin":457,"end":485},"obj":"ChemicalEntity"},{"id":"635","span":{"begin":487,"end":490},"obj":"ChemicalEntity"},{"id":"636","span":{"begin":559,"end":561},"obj":"GeneOrGeneProduct"},{"id":"637","span":{"begin":588,"end":594},"obj":"GeneOrGeneProduct"},{"id":"638","span":{"begin":642,"end":644},"obj":"GeneOrGeneProduct"},{"id":"639","span":{"begin":680,"end":686},"obj":"GeneOrGeneProduct"},{"id":"640","span":{"begin":786,"end":860},"obj":"SequenceVariant"},{"id":"641","span":{"begin":929,"end":959},"obj":"SequenceVariant"},{"id":"642","span":{"begin":971,"end":1004},"obj":"SequenceVariant"},{"id":"643","span":{"begin":1006,"end":1011},"obj":"SequenceVariant"},{"id":"644","span":{"begin":1091,"end":1098},"obj":"OrganismTaxon"},{"id":"645","span":{"begin":1131,"end":1137},"obj":"GeneOrGeneProduct"},{"id":"646","span":{"begin":1185,"end":1192},"obj":"OrganismTaxon"},{"id":"647","span":{"begin":1203,"end":1208},"obj":"SequenceVariant"},{"id":"648","span":{"begin":1269,"end":1272},"obj":"DiseaseOrPhenotypicFeature"},{"id":"649","span":{"begin":1273,"end":1281},"obj":"OrganismTaxon"},{"id":"650","span":{"begin":1323,"end":1330},"obj":"SequenceVariant"},{"id":"651","span":{"begin":1389,"end":1406},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A1","pred":"db_id","subj":"620","obj":"NCBIGene:6716"},{"id":"A2","pred":"db_id","subj":"621","obj":"MESH:D058490"},{"id":"A3","pred":"db_id","subj":"622","obj":"NCBITaxon:9606"},{"id":"A4","pred":"db_id","subj":"623","obj":"NCBIGene:6716"},{"id":"A5","pred":"db_id","subj":"624","obj":"NCBIGene:6716"},{"id":"A6","pred":"db_id","subj":"625","obj":"MESH:D058490"},{"id":"A7","pred":"db_id","subj":"626","obj":"MESH:D058490"},{"id":"A8","pred":"db_id","subj":"627","obj":"NCBITaxon:9606"},{"id":"A9","pred":"db_id","subj":"628","obj":"MESH:D013739"},{"id":"A10","pred":"db_id","subj":"629","obj":"MESH:D013739"},{"id":"A11","pred":"db_id","subj":"630","obj":"NCBIGene:367"},{"id":"A12","pred":"db_id","subj":"631","obj":"NCBIGene:367"},{"id":"A13","pred":"db_id","subj":"632","obj":"NCBITaxon:9606"},{"id":"A14","pred":"db_id","subj":"633","obj":"MESH:D013739"},{"id":"A15","pred":"db_id","subj":"634","obj":"MESH:D006063"},{"id":"A16","pred":"db_id","subj":"635","obj":"MESH:D006063"},{"id":"A17","pred":"db_id","subj":"636","obj":"NCBIGene:367"},{"id":"A18","pred":"db_id","subj":"637","obj":"NCBIGene:6716"},{"id":"A19","pred":"db_id","subj":"638","obj":"NCBIGene:367"},{"id":"A20","pred":"db_id","subj":"639","obj":"NCBIGene:6716"},{"id":"A21","pred":"db_id","subj":"640","obj":"c|DEL|CODON219|T"},{"id":"A22","pred":"db_id","subj":"641","obj":"DBSNP:rs9332964"},{"id":"A23","pred":"db_id","subj":"642","obj":"DBSNP:rs9332964"},{"id":"A24","pred":"db_id","subj":"643","obj":"DBSNP:rs9332964"},{"id":"A25","pred":"db_id","subj":"644","obj":"NCBITaxon:9606"},{"id":"A26","pred":"db_id","subj":"645","obj":"NCBIGene:6716"},{"id":"A27","pred":"db_id","subj":"646","obj":"NCBITaxon:9606"},{"id":"A28","pred":"db_id","subj":"647","obj":"DBSNP:rs9332964"},{"id":"A29","pred":"db_id","subj":"648","obj":"MESH:D058490"},{"id":"A30","pred":"db_id","subj":"649","obj":"NCBITaxon:9606"},{"id":"A31","pred":"db_id","subj":"650","obj":"c|DEL|CODON219|T"},{"id":"A32","pred":"db_id","subj":"651","obj":"NCBIGene:6716"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":114},"obj":"Sentence"},{"id":"T2","span":{"begin":115,"end":341},"obj":"Sentence"},{"id":"T3","span":{"begin":342,"end":541},"obj":"Sentence"},{"id":"T4","span":{"begin":542,"end":641},"obj":"Sentence"},{"id":"T5","span":{"begin":642,"end":679},"obj":"Sentence"},{"id":"T6","span":{"begin":680,"end":780},"obj":"Sentence"},{"id":"T7","span":{"begin":781,"end":1013},"obj":"Sentence"},{"id":"T8","span":{"begin":1014,"end":1086},"obj":"Sentence"},{"id":"T9","span":{"begin":1087,"end":1180},"obj":"Sentence"},{"id":"T10","span":{"begin":1181,"end":1331},"obj":"Sentence"},{"id":"T11","span":{"begin":1332,"end":1483},"obj":"Sentence"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-entities-OrganismTaxon-PD","denotations":[{"id":"T1","span":{"begin":457,"end":462},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":851,"end":856},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":892,"end":897},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"NCBItxid:9606"},{"id":"A2","pred":"db_id","subj":"T2","obj":"NCBItxid:79338"},{"id":"A3","pred":"db_id","subj":"T3","obj":"NCBItxid:79338"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":1006,"end":1011},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":1203,"end":1208},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":1323,"end":1330},"obj":"SequenceVariant"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":68,"end":87},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":211,"end":230},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0005518"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0005518"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":22,"end":31},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":39,"end":45},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":58,"end":62},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":63,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":161,"end":170},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":171,"end":177},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":184,"end":190},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":201,"end":205},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":206,"end":210},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":274,"end":284},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":296,"end":313},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":315,"end":317},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":375,"end":384},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":441,"end":450},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":463,"end":472},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":559,"end":561},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":588,"end":594},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":642,"end":644},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":680,"end":686},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":724,"end":733},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":758,"end":762},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":815,"end":823},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":837,"end":845},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":862,"end":867},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":871,"end":879},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":880,"end":888},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":960,"end":968},"obj":"GeneOrGeneProduct"},{"id":"T29","span":{"begin":971,"end":980},"obj":"GeneOrGeneProduct"},{"id":"T30","span":{"begin":1014,"end":1020},"obj":"GeneOrGeneProduct"},{"id":"T31","span":{"begin":1131,"end":1137},"obj":"GeneOrGeneProduct"},{"id":"T32","span":{"begin":1138,"end":1147},"obj":"GeneOrGeneProduct"},{"id":"T33","span":{"begin":1160,"end":1169},"obj":"GeneOrGeneProduct"},{"id":"T34","span":{"begin":1209,"end":1222},"obj":"GeneOrGeneProduct"},{"id":"T35","span":{"begin":1296,"end":1301},"obj":"GeneOrGeneProduct"},{"id":"T36","span":{"begin":1313,"end":1321},"obj":"GeneOrGeneProduct"},{"id":"T37","span":{"begin":1332,"end":1338},"obj":"GeneOrGeneProduct"},{"id":"T38","span":{"begin":1370,"end":1375},"obj":"GeneOrGeneProduct"},{"id":"T39","span":{"begin":1391,"end":1396},"obj":"GeneOrGeneProduct"},{"id":"T40","span":{"begin":1397,"end":1406},"obj":"GeneOrGeneProduct"},{"id":"T41","span":{"begin":1407,"end":1413},"obj":"GeneOrGeneProduct"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":39,"end":45},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":161,"end":170},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":171,"end":177},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":184,"end":190},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":296,"end":313},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":315,"end":317},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":375,"end":384},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":559,"end":561},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":588,"end":594},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":642,"end":644},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":680,"end":686},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":971,"end":980},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":1131,"end":1137},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":1296,"end":1301},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":1332,"end":1338},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":1370,"end":1375},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":1391,"end":1396},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":1397,"end":1406},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":1407,"end":1413},"obj":"GeneOrGeneProduct"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":63,"end":87},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":206,"end":230},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":232,"end":235},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":296,"end":304},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":375,"end":394},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1269,"end":1272},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D058490"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D058490"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D058490"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D014770"},{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D012734"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D058490"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":39,"end":45},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":161,"end":170},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":184,"end":190},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":296,"end":313},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":315,"end":317},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":375,"end":384},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":559,"end":561},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":588,"end":594},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":642,"end":644},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":680,"end":686},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":1131,"end":1137},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":1332,"end":1338},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":1391,"end":1396},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":1397,"end":1406},"obj":"GeneOrGeneProduct"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":487,"end":490},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":955,"end":958},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0010614"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0011921"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":88,"end":95},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":237,"end":244},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":344,"end":351},"obj":"OrganismTaxon"},{"id":"T4","span":{"begin":457,"end":462},"obj":"OrganismTaxon"},{"id":"T5","span":{"begin":1091,"end":1098},"obj":"OrganismTaxon"},{"id":"T6","span":{"begin":1185,"end":1192},"obj":"OrganismTaxon"},{"id":"T7","span":{"begin":1273,"end":1281},"obj":"OrganismTaxon"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":63,"end":87},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":206,"end":230},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":232,"end":235},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":375,"end":394},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1269,"end":1272},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D058490"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D058490"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D058490"},{"id":"A4","pred":"ID:","subj":"T4","obj":"D012734"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D058490"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":63,"end":87},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":206,"end":230},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":232,"end":235},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":375,"end":394},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1269,"end":1272},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D058490"},{"id":"A2","pred":"#label","subj":"T2","obj":"D058490"},{"id":"A3","pred":"#label","subj":"T3","obj":"D058490"},{"id":"A4","pred":"#label","subj":"T4","obj":"D012734"},{"id":"A5","pred":"#label","subj":"T5","obj":"D058490"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":153,"end":170},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":232,"end":235},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":257,"end":269},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":296,"end":304},"obj":"ChemicalEntity"},{"id":"T6","span":{"begin":463,"end":485},"obj":"ChemicalEntity"},{"id":"T7","span":{"begin":487,"end":490},"obj":"ChemicalEntity"},{"id":"T8","span":{"begin":929,"end":936},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":946,"end":953},"obj":"ChemicalEntity"},{"id":"T12","span":{"begin":955,"end":958},"obj":"ChemicalEntity"},{"id":"T13","span":{"begin":971,"end":980},"obj":"ChemicalEntity"},{"id":"T14","span":{"begin":996,"end":1004},"obj":"ChemicalEntity"},{"id":"T17","span":{"begin":1269,"end":1272},"obj":"ChemicalEntity"},{"id":"T18","span":{"begin":1389,"end":1406},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D042944"},{"id":"A2","pred":"ID:","subj":"T2","obj":"C041626"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D013739"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_17347"},{"id":"A5","pred":"ID:","subj":"T5","obj":"ChemicalEntity"},{"id":"A6","pred":"ID:","subj":"T6","obj":"http://purl.obolibrary.org/obo/CHEBI_81570"},{"id":"A7","pred":"ID:","subj":"T7","obj":"ChemicalEntity"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D006147"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D000225"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_16708"},{"id":"A12","pred":"ID:","subj":"T12","obj":"http://purl.obolibrary.org/obo/CHEBI_27869"},{"id":"A13","pred":"ID:","subj":"T13","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A14","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A15","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A16","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A17","pred":"ID:","subj":"T17","obj":"C041626"},{"id":"A18","pred":"ID:","subj":"T18","obj":"D042944"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T18","span":{"begin":1389,"end":1406},"obj":"ChemicalEntity"},{"id":"T17","span":{"begin":1269,"end":1272},"obj":"ChemicalEntity"},{"id":"T14","span":{"begin":996,"end":1004},"obj":"ChemicalEntity"},{"id":"T13","span":{"begin":971,"end":980},"obj":"ChemicalEntity"},{"id":"T12","span":{"begin":955,"end":958},"obj":"ChemicalEntity"},{"id":"T10","span":{"begin":946,"end":953},"obj":"ChemicalEntity"},{"id":"T8","span":{"begin":929,"end":936},"obj":"ChemicalEntity"},{"id":"T7","span":{"begin":487,"end":490},"obj":"ChemicalEntity"},{"id":"T6","span":{"begin":463,"end":485},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":296,"end":304},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":257,"end":269},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":232,"end":235},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":153,"end":170},"obj":"ChemicalEntity"},{"id":"T15","span":{"begin":1397,"end":1406},"obj":"GeneOrGeneProduct"},{"id":"T73205","span":{"begin":1391,"end":1396},"obj":"GeneOrGeneProduct"},{"id":"T90989","span":{"begin":1332,"end":1338},"obj":"GeneOrGeneProduct"},{"id":"T23941","span":{"begin":1131,"end":1137},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":680,"end":686},"obj":"GeneOrGeneProduct"},{"id":"T77157","span":{"begin":642,"end":644},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":588,"end":594},"obj":"GeneOrGeneProduct"},{"id":"T73084","span":{"begin":559,"end":561},"obj":"GeneOrGeneProduct"},{"id":"T44510","span":{"begin":375,"end":384},"obj":"GeneOrGeneProduct"},{"id":"T62153","span":{"begin":315,"end":317},"obj":"GeneOrGeneProduct"},{"id":"T35411","span":{"begin":296,"end":313},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":184,"end":190},"obj":"GeneOrGeneProduct"},{"id":"T42925","span":{"begin":161,"end":170},"obj":"GeneOrGeneProduct"},{"id":"T37408","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T91472","span":{"begin":39,"end":45},"obj":"GeneOrGeneProduct"},{"id":"T24787","span":{"begin":1269,"end":1272},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T76053","span":{"begin":375,"end":394},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6110","span":{"begin":232,"end":235},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T93771","span":{"begin":206,"end":230},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T95826","span":{"begin":63,"end":87},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T84107","span":{"begin":1273,"end":1281},"obj":"OrganismTaxon"},{"id":"T19164","span":{"begin":1185,"end":1192},"obj":"OrganismTaxon"},{"id":"T74123","span":{"begin":1091,"end":1098},"obj":"OrganismTaxon"},{"id":"T37265","span":{"begin":457,"end":462},"obj":"OrganismTaxon"},{"id":"T63438","span":{"begin":344,"end":351},"obj":"OrganismTaxon"},{"id":"T50326","span":{"begin":237,"end":244},"obj":"OrganismTaxon"},{"id":"T76088","span":{"begin":88,"end":95},"obj":"OrganismTaxon"},{"id":"T82436","span":{"begin":1323,"end":1330},"obj":"SequenceVariant"},{"id":"T42366","span":{"begin":1203,"end":1208},"obj":"SequenceVariant"},{"id":"T9443","span":{"begin":1006,"end":1011},"obj":"SequenceVariant"}],"attributes":[{"id":"A48909","pred":"#label","subj":"T24787","obj":"D058490"},{"id":"A71835","pred":"#label","subj":"T76053","obj":"D012734"},{"id":"A18","pred":"ID:","subj":"T18","obj":"D042944"},{"id":"A11","pred":"ID:","subj":"T10","obj":"http://purl.obolibrary.org/obo/CHEBI_16708"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D000225"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D042944"},{"id":"A2","pred":"ID:","subj":"T2","obj":"C041626"},{"id":"A12","pred":"ID:","subj":"T12","obj":"http://purl.obolibrary.org/obo/CHEBI_27869"},{"id":"A6","pred":"ID:","subj":"T6","obj":"http://purl.obolibrary.org/obo/CHEBI_81570"},{"id":"A73692","pred":"#label","subj":"T6110","obj":"D058490"},{"id":"A17","pred":"ID:","subj":"T17","obj":"C041626"},{"id":"A13","pred":"ID:","subj":"T13","obj":"http://purl.obolibrary.org/obo/CHEBI_28300"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_17347"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D013739"},{"id":"A16","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_16467"},{"id":"A15","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_29016"},{"id":"A14","pred":"ID:","subj":"T14","obj":"http://purl.obolibrary.org/obo/CHEBI_32696"},{"id":"A5","pred":"ID:","subj":"T5","obj":"ChemicalEntity"},{"id":"A9","pred":"ID:","subj":"T8","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D006147"},{"id":"A7","pred":"ID:","subj":"T7","obj":"ChemicalEntity"},{"id":"A77866","pred":"#label","subj":"T93771","obj":"D058490"},{"id":"A81135","pred":"#label","subj":"T95826","obj":"D058490"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":375,"end":394},"obj":"HP:0000062"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":1006,"end":1011},"obj":"ProteinMutation:p|SUB|R|227|Q"},{"id":"T2","span":{"begin":1203,"end":1208},"obj":"ProteinMutation:p|SUB|R|227|Q"},{"id":"T3","span":{"begin":1323,"end":1330},"obj":"DNAMutation:|DEL|CODON219|T"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":153,"end":170},"obj":"gene:6715"},{"id":"T1","span":{"begin":232,"end":235},"obj":"disease:C0555232"},{"id":"T2","span":{"begin":184,"end":190},"obj":"gene:6716"},{"id":"T3","span":{"begin":232,"end":235},"obj":"disease:C0555232"},{"id":"T4","span":{"begin":315,"end":317},"obj":"gene:367"},{"id":"T5","span":{"begin":232,"end":235},"obj":"disease:C0555232"},{"id":"T6","span":{"begin":296,"end":313},"obj":"gene:367"},{"id":"T7","span":{"begin":232,"end":235},"obj":"disease:C0555232"},{"id":"T8","span":{"begin":1389,"end":1406},"obj":"gene:6715"},{"id":"T9","span":{"begin":1407,"end":1424},"obj":"disease:C0149676"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.\nThe goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences. A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months. Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA. AR gene coding sequences were normal. SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele: 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q). Testes located in the inguinal canal showed a normal morphology for age. The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4. The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219. Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development."}