PubMed:10087990 JSONTXT

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10087990-1#4#16#geners1800562","span":{"begin":83,"end":95},"obj":"geners1800562"},{"id":"10087990-1#72#98#diseaseC0392514","span":{"begin":151,"end":177},"obj":"diseaseC0392514"}],"relations":[{"id":"4#16#geners180056272#98#diseaseC0392514","pred":"associated_with","subj":"10087990-1#4#16#geners1800562","obj":"10087990-1#72#98#diseaseC0392514"}],"text":"Transferrin receptor mutation analysis in hereditary hemochromatosis patients.\nThe Cys282--\u003eTyr mutation in the HFE gene is carried by the majority of hereditary hemochromatosis patient chromosomes, yet some patients do not seem to harbor any mutation in this gene. This suggests a possibility that these patients may have a mutation in other genes in the same pathway as HFE. We analyzed the cDNA sequences of transferrin receptor (TFR), which was recently shown to interact with HFE, in twenty-one hereditary hemochromatosis patients including sixteen individuals who did not carry a Cys282--\u003eTyr mutation. A nucleotide substitution (424A--\u003eG), which resulted in the Ser142--\u003eGly amino acid substitution, was the only amino acid polymorphism detected in the open reading frame of the TFR gene in these patients. This amino acid substitution was a rather common polymorphism in the general population (49%) and its frequency did not significantly differ in the hereditary hemochromatosis (HH) patients regardless of the HFE genotype. Thus, amino acid changes in the TFR gene do not appear to play a role in HH even when the patients do not have a HFE mutation. However, this study does not rule out the possibility of the involvement of mutations in non-coding regions."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10087990-0#0#20#gene7037","span":{"begin":266,"end":431},"obj":"gene7037"},{"id":"10087990-0#42#68#diseaseC0392514","span":{"begin":815,"end":988},"obj":"diseaseC0392514"},{"id":"10087990-5#207#210#gene3077","span":{"begin":1021,"end":1024},"obj":"gene3077"},{"id":"10087990-5#148#174#diseaseC0392514","span":{"begin":962,"end":988},"obj":"diseaseC0392514"},{"id":"10087990-5#176#178#diseaseC0392514","span":{"begin":990,"end":992},"obj":"diseaseC0392514"}],"relations":[{"id":"0#20#gene703742#68#diseaseC0392514","pred":"associated_with","subj":"10087990-0#0#20#gene7037","obj":"10087990-0#42#68#diseaseC0392514"},{"id":"207#210#gene3077148#174#diseaseC0392514","pred":"associated_with","subj":"10087990-5#207#210#gene3077","obj":"10087990-5#148#174#diseaseC0392514"},{"id":"207#210#gene3077176#178#diseaseC0392514","pred":"associated_with","subj":"10087990-5#207#210#gene3077","obj":"10087990-5#176#178#diseaseC0392514"}],"text":"Transferrin receptor mutation analysis in hereditary hemochromatosis patients.\nThe Cys282--\u003eTyr mutation in the HFE gene is carried by the majority of hereditary hemochromatosis patient chromosomes, yet some patients do not seem to harbor any mutation in this gene. This suggests a possibility that these patients may have a mutation in other genes in the same pathway as HFE. We analyzed the cDNA sequences of transferrin receptor (TFR), which was recently shown to interact with HFE, in twenty-one hereditary hemochromatosis patients including sixteen individuals who did not carry a Cys282--\u003eTyr mutation. A nucleotide substitution (424A--\u003eG), which resulted in the Ser142--\u003eGly amino acid substitution, was the only amino acid polymorphism detected in the open reading frame of the TFR gene in these patients. This amino acid substitution was a rather common polymorphism in the general population (49%) and its frequency did not significantly differ in the hereditary hemochromatosis (HH) patients regardless of the HFE genotype. Thus, amino acid changes in the TFR gene do not appear to play a role in HH even when the patients do not have a HFE mutation. However, this study does not rule out the possibility of the involvement of mutations in non-coding regions."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":0,"end":20},"obj":"gene:7037"},{"id":"T1","span":{"begin":42,"end":68},"obj":"disease:C0392514"},{"id":"T2","span":{"begin":112,"end":115},"obj":"gene:3077"},{"id":"T3","span":{"begin":151,"end":177},"obj":"disease:C0392514"},{"id":"T4","span":{"begin":1021,"end":1024},"obj":"gene:3077"},{"id":"T5","span":{"begin":990,"end":992},"obj":"disease:C0392514"},{"id":"T6","span":{"begin":1021,"end":1024},"obj":"gene:3077"},{"id":"T7","span":{"begin":962,"end":988},"obj":"disease:C0392514"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Transferrin receptor mutation analysis in hereditary hemochromatosis patients.\nThe Cys282--\u003eTyr mutation in the HFE gene is carried by the majority of hereditary hemochromatosis patient chromosomes, yet some patients do not seem to harbor any mutation in this gene. This suggests a possibility that these patients may have a mutation in other genes in the same pathway as HFE. We analyzed the cDNA sequences of transferrin receptor (TFR), which was recently shown to interact with HFE, in twenty-one hereditary hemochromatosis patients including sixteen individuals who did not carry a Cys282--\u003eTyr mutation. A nucleotide substitution (424A--\u003eG), which resulted in the Ser142--\u003eGly amino acid substitution, was the only amino acid polymorphism detected in the open reading frame of the TFR gene in these patients. This amino acid substitution was a rather common polymorphism in the general population (49%) and its frequency did not significantly differ in the hereditary hemochromatosis (HH) patients regardless of the HFE genotype. Thus, amino acid changes in the TFR gene do not appear to play a role in HH even when the patients do not have a HFE mutation. However, this study does not rule out the possibility of the involvement of mutations in non-coding regions."}