PubMed:23317772 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":89},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":90,"end":100},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":101,"end":290},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":291,"end":410},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":411,"end":418},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":419,"end":500},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":501,"end":509},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":510,"end":661},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":662,"end":674},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":675,"end":836},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":89},"obj":"Sentence"},{"id":"T2","span":{"begin":90,"end":100},"obj":"Sentence"},{"id":"T3","span":{"begin":101,"end":290},"obj":"Sentence"},{"id":"T4","span":{"begin":291,"end":410},"obj":"Sentence"},{"id":"T5","span":{"begin":411,"end":418},"obj":"Sentence"},{"id":"T6","span":{"begin":419,"end":500},"obj":"Sentence"},{"id":"T7","span":{"begin":501,"end":509},"obj":"Sentence"},{"id":"T8","span":{"begin":510,"end":661},"obj":"Sentence"},{"id":"T9","span":{"begin":662,"end":674},"obj":"Sentence"},{"id":"T10","span":{"begin":675,"end":836},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.\nOBJECTIVE: Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.\nDESIGN: Exome sequencing was performed in two of affected members of the Pakistan family.\nRESULTS: The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T\u003eA (p.C227X).\nCONCLUSIONS: This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":712,"end":717},"obj":"gene:64094"},{"id":"T1","span":{"begin":733,"end":744},"obj":"disease:C0020608"},{"id":"T2","span":{"begin":712,"end":717},"obj":"gene:64094"},{"id":"T3","span":{"begin":749,"end":760},"obj":"disease:C0240340"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.\nOBJECTIVE: Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.\nDESIGN: Exome sequencing was performed in two of affected members of the Pakistan family.\nRESULTS: The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T\u003eA (p.C227X).\nCONCLUSIONS: This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":234,"end":245},"obj":"HP_0000677"},{"id":"T2","span":{"begin":382,"end":393},"obj":"HP_0000677"},{"id":"T3","span":{"begin":398,"end":409},"obj":"HP_0000691"}],"text":"Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.\nOBJECTIVE: Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.\nDESIGN: Exome sequencing was performed in two of affected members of the Pakistan family.\nRESULTS: The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T\u003eA (p.C227X).\nCONCLUSIONS: This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23317772-1#155#159#gene4487","span":{"begin":256,"end":260},"obj":"gene4487"},{"id":"23317772-1#133#144#diseaseC0020608","span":{"begin":234,"end":245},"obj":"diseaseC0020608"},{"id":"23317772-1#133#144#diseaseC4082304","span":{"begin":234,"end":245},"obj":"diseaseC4082304"}],"relations":[{"id":"155#159#gene4487133#144#diseaseC0020608","pred":"associated_with","subj":"23317772-1#155#159#gene4487","obj":"23317772-1#133#144#diseaseC0020608"},{"id":"155#159#gene4487133#144#diseaseC4082304","pred":"associated_with","subj":"23317772-1#155#159#gene4487","obj":"23317772-1#133#144#diseaseC4082304"}],"text":"Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.\nOBJECTIVE: Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.\nDESIGN: Exome sequencing was performed in two of affected members of the Pakistan family.\nRESULTS: The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T\u003eA (p.C227X).\nCONCLUSIONS: This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development."}

{"project":"DisGeNet-2017-sample","denotations":[{"id":"T1661","span":{"begin":256,"end":260},"obj":"gene:4487"},{"id":"T1662","span":{"begin":234,"end":245},"obj":"disease:C0020608"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T1661","obj":"T1662"},{"id":"R2","pred":"associated_with","subj":"T1661","obj":"T1662"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.\nOBJECTIVE: Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A. This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.\nDESIGN: Exome sequencing was performed in two of affected members of the Pakistan family.\nRESULTS: The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T\u003eA (p.C227X).\nCONCLUSIONS: This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development."}