PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 31515780-8 2019 CONCLUSION: Mutations of the CYP17A1 gene probably underlie the pathogenesis of 17-OHD, for which c.985_987delTACinsAA(Y329Kfs) is the most common. 17-ohd 80-86 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 29-36 19040066-1 2008 OBJECTIVE: To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test. 17-ohd 149-155 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 51-58 19040066-1 2008 OBJECTIVE: To investigate the molecular defects of CYP17A1 gene in a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test. 17-ohd 220-226 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 51-58 19040066-7 2008 CONCLUSION: 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA); some hormonal response to ACTH stimulation was abnormal in carriers. 17-ohd 12-18 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 48-55 19040066-7 2008 CONCLUSION: 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA); some hormonal response to ACTH stimulation was abnormal in carriers. 17-ohd 12-18 proopiomelanocortin Homo sapiens 103-107 31695722-2 2019 The 17alpha-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form of CAH caused by variants in the CYP17A1 gene. 17-ohd 48-54 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 109-116 31695722-3 2019 Aims: We report a novel compound heterozygous CYP17A1 variant and its association with the pathogenesis of 17-OHD. 17-ohd 107-113 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 46-53 31695722-14 2019 Conclusions: These results suggest that the compound heterozygous variant of c.1304T > C and c.1228delG of the CYP17A1 gene can lead to 17-OHD. 17-ohd 136-142 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 111-118 30695673-2 2018 17-OHD is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism, or male pseudohermaphroditism. 17-ohd 0-6 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 37-55 30614301-1 2019 17alpha-Hydroxylase/17,20-lyase deficiency (17-OHD) is a rare disease caused by mutations of the CYP17A1 gene. 17-ohd 44-50 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 97-104 30614301-12 2019 For the first time, we report a 17-OHD case accompanied by SCFE, AML, and a novel mutation site in the CYP17A1 gene. 17-ohd 32-38 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 103-110 30695673-2 2018 17-OHD is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism, or male pseudohermaphroditism. 17-ohd 0-6 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 62-69 30695673-11 2018 In conclusion, we discovered two novel heterozygous CYP17A1 mutations Ile381Thr (c.1142T>C) and Ser168del (c.503_505delCCT) in a Chinese patient with 17-OHD. 17-ohd 153-159 cytochrome P450 family 17 subfamily A member 1 Homo sapiens 52-59