Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
Abstract
17 alpha-Hydroxylase deficiency blocks the biosynthesis of cortisol and sex steroids, resulting in mineralocorticoid excess, hypertension, sexual infantilism, and female phenotype in both genetic sexes. The disease is caused by mutations in the gene encoding cytochrome P450c17, which is the single enzyme that mediates both 17 alpha-hydroxylase and 17,20-lyase activities. We report a 14-yr-old patient from Thailand with a classical clinical presentation of this rare disorder. Analysis of her P450c17 gene by polymerase chain reaction amplification and sequencing showed a nine-base deletion, eliminating codons 487-489 (Asp-Ser-Phe) near the carboxy-terminus of P450c17. This deletion creates a BclI site in the mutant DNA, permitting accurate demonstration that the patient was homozygous for this lesion, whereas one parent and two siblings were heterozygous. By use of site-directed mutagenesis, we created a vector that could express this mutated form of P450c17 when transfected into non-steroidogenic COS-1 cells. Such transfected cells produced immunodetectable P450c17 protein, but had no 17 alpha-hydroxylase or 17,20-lyase activity, whereas cells similarly transfected with a vector expressing normal human P450c17 could 17 alpha-hydroxylate either pregnenolone or progesterone and convert 17 alpha-hydroxypregnenolone to dehydroepiandrosterone, showing the presence of both activities. This is the first report of the molecular genetic basis of 17 alpha-hydroxylase deficiency in a Southeast Asian patient.
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An in-frame deletion of residues 487-489 is found throughout Southeast Asia in 17α-hydroxylase deficiency.
“2) in-frame deletion of residues 487-489 is found throughout Southeast Asia (270, 271);”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [270]
Cites
Supercoil Sequencing: A Fast and Simple Method for Sequencing Plasmid DNA
Chen, E. Y., & Seeburg, P. H. (1985) · DNA · doi:10.1089/dna.1985.4.165 · Cited by 2,388 · see citing works
Molecular biology of steroid hormone synthesis
MILLER, W. L. (1988) · Endocrine Reviews · doi:10.1210/edrv-9-3-295 · Cited by 1,397 · see citing works
Self-citationThe P450 Superfamily: Update on New Sequences, Gene Mapping, and Recommended Nomenclature
Nebert, D. W., Nelson, D. R., Coon, M. J., Estabrook, R. W., Feyereisen, R., Fujii‐Kuriyama, Y., Gonzalez, F. J., Guengerich, F. P., GUNSALUS, I. C., Johnson, E. F., et al. (1991) · DNA and Cell Biology · doi:10.1089/dna.1991.10.1 · Cited by 1,086 · see citing works
Ellis, L., Clauser, E., Morgan, D. O., Edery, M., Roth, R. A., & Rutter, W. J. (1986) · Cell · doi:10.1016/0092-8674(86)90786-5 · Cited by 1,070 · see citing works
Gazdar, A. F., Oie, H. K., Shackleton, C. H. L., Chen, T. R., Triche, T. J., Myers, C. E., Chrousos, G. P., Brennan, M. F., Stein, C. A., & Rocca, R. V. L. (1990) · PubMed · Cited by 446 · see citing works
PICADO-LEONARD, J., & MILLER, W. L. (1987) · DNA · doi:10.1089/dna.1987.6.439 · Cited by 415 · see citing works
Self-citation17α-Hydroxylase/17,20 lyase deficiency: from clinical investigation to molecular definition
YANASE, T., SIMPSON, E. R., & WATERMAN, M. R. (1991) · Endocrine Reviews · doi:10.1210/edrv-12-1-91 · Cited by 390 · see citing works
Expression of Bovine 17α-Hydroxylase Cytochrome P-450 cDNA in Nonsteroidogenic (COS 1) Cells
Zuber, M. X., Simpson, E. R., & Waterman, M. R. (1986) · Science · doi:10.1126/science.3535074 · Cited by 388 · see citing works
Optimal conditions for directly sequencing double-stranded PCR products with Sequenase
Casanova, J., Pannetier, C., Jaulin, C., & Kourilsky, P. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.13.4028 · Cited by 341 · see citing works
Nakajin, S., & Hall, P. F. (1981) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)69538-4 · Cited by 299 · see citing works
Nakajin, S., Shively, J. E., Yuan, P.-M., & Hall, P. F. (1981) · Biochemistry · doi:10.1021/bi00517a014 · Cited by 293 · see citing works
Regulation of steroidogenesis in NCI-H295 cells: a cellular model of the human fetal adrenal
Staels, B., Hum, D., & Miller, W. L. (1993) · Molecular Endocrinology · doi:10.1210/mend.7.3.8387159 · Cited by 206 · see citing works
Self-citationLin, D., Black, S. M., Nagahama, Y., & Miller, W. L. (1993) · Endocrinology · doi:10.1210/endo.132.6.8504753 · Cited by 174 · see citing works
Self-citationFevold, H. R., Lorence, M. C., McCarthy, J. L., Trant, J. M., Kagimoto, M., Waterman, M. R., & Mason, J. I. (1989) · Molecular Endocrinology · doi:10.1210/mend-3-6-968 · Cited by 159 · see citing works
SPARKES, R. S., KLISAK, I., & MILLER, W. L. (1991) · DNA and Cell Biology · doi:10.1089/dna.1991.10.359 · Cited by 149 · see citing works
Self-citationMissense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency
Lin, D., Harikrishna, J. A., Moore, C. C., Jones, K. L., & Miller, W. L. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)98506-6 · Cited by 135 · see citing works
Self-citationNakajin, S., Hall, P. F., & Onoda, M. (1981) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)69138-6 · Cited by 132 · see citing works
Moore, C. C., Brentano, S. T., & Miller, W. L. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.11.6013 · Cited by 118 · see citing works
Self-citation[18] Oligonucleotide-directed construction of mutations via gapped duplex DNA
Kramer, W., & Fritz, H. (1987) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(87)54084-8 · Cited by 115 · see citing works
Laughton, C. A., Neidle, S., Zvelebil, M., & Sternberg, M. J. E. (1990) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(90)90806-x · Cited by 84 · see citing works
Saenger, P. H. (1984) · The Journal of Pediatrics · doi:10.1016/s0022-3476(84)80581-8 · Cited by 74 · see citing works
Biason, A., Mantero, F., Scaroni, C. M., Simpson, E. R., & Waterman, M. R. (1991) · Molecular Endocrinology · doi:10.1210/mend-5-12-2037 · Cited by 38 · see citing works
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Sorted by citations
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458 · see citing works
Self-citationZhang, L. H., Rodriguez, H., Ohno, S., & Miller, W. L. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.23.10619 · Cited by 455 · see citing works
Self-citationGenetics of congenital adrenal hyperplasia
Krone, N., & Arlt, W. (2009) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.10.014 · Cited by 312 · see citing works
THE GENETICS, PATHOPHYSIOLOGX, AND MANAGEMENT OF HUMAN DEFICIENCIES OF P450c17
Auchus, R. J. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70021-5 · Cited by 266 · see citing works
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic
Auchus, R. J. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.02.002 · Cited by 233 · see citing works
The regulation of 17,20 lyase activity
Miller, W. L., Auchus, R. J., & Geller, D. H. (1997) · Steroids · doi:10.1016/s0039-128x(96)00172-9 · Cited by 227 · see citing works
Self-citationCosta-Santos, M., Kater, C. E., & Auchus, R. J. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031021 · Cited by 224 · see citing works
Auchus, R. J., & Miller, W. L. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.7.0326 · Cited by 185 · see citing works
Self-citationMECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis
Miller, W. L. (2018) · European Journal of Endocrinology · doi:10.1530/eje-18-0279 · Cited by 138 · see citing works
Self-citationAdrenal Androgens and Androgen Precursors-Definition, Synthesis, Regulation and Physiologic Actions
Turcu, A., Smith, J. M., Auchus, R., & Rainey, W. E. (2014) · Comprehensive physiology · doi:10.1002/cphy.c140006 · Cited by 113 · see citing works
Martin, R. M., Lin, C. J., Costa, E. M. F., de Oliveira, M. L., Carrilho, A. J. F., Villar, H. C. C. E., Longui, C. A., & Mendonca, B. B. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030988 · Cited by 106 · see citing works
17α-Hydroxylase/17,20-lyase defects
Yanase, T. (1995) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(95)00029-y · Cited by 101 · see citing works
The biosynthesis of steroids and triterpenoids
Brown, G. D. (1998) · Natural Product Reports · doi:10.1039/a815653y · Cited by 88 · see citing works
Kim, Y., Kang, M., Choi, J., Lee, B. H., Kim, G.-H., Ohn, J. H., Kim, S. Y., Park, M. S., & Yoo, H. (2013) · Metabolism · doi:10.1016/j.metabol.2013.08.015 · Cited by 78 · see citing works
The next 150 years of congenital adrenal hyperplasia
Turcu, A. F., & Auchus, R. J. (2015) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2015.05.013 · Cited by 69 · see citing works
Lewis, D. F. V., & Lee-Robichaud, P. (1998) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/s0960-0760(98)00032-6 · Cited by 68 · see citing works
Lam, C.-W., Arlt, W., Chan, C.-K., Honour, J. W., Lin, C. J., Tong, S.-F., Choy, K.-W., & Miller, W. L. (2001) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3134 · Cited by 65 · see citing works
Self-citationYang, J., Cui, B., Sun, S., Shi, T., Zheng, S., Bi, Y., Liu, J., Zhao, Y., Chen, J., Ning, G., et al. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2283 · Cited by 63 · see citing works
Seventeen Alpha-hydroxylase Deficiency
Wong, S.-L., Shu, S., & Tsai, C. (2006) · Journal of the Formosan Medical Association · doi:10.1016/s0929-6646(09)60342-9 · Cited by 55 · see citing works
Biason‐Lauber, A., Kempken, B., WERDER, E. A., Forest, M. G., Einaudi, S., Ranke, M. B., Matsuo, N., Brunelli, V., Schönle, E., & ZACHMANN, M. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.3.6475 · Cited by 58 · see citing works
Zhang, M., Sun, S., Liu, Y., Zhang, H., Jiao, Y., Wang, W., & Li, X. (2015) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2015.02.007 · Cited by 51 · see citing works
The Adrenal Cortex and its Disorders
Miller, W. L. (2009) · Wiley eBooks · doi:10.1002/9781444316728.ch13 · Cited by 51 · see citing works
Self-citationWu, C., Fan, S., Qian, Y., Zhou, Y., Jin, J., Dai, Z., & Jiang, L. (2017) · Endocrine Practice · doi:10.4158/ep161610.or · Cited by 46 · see citing works
Wei, J., Wei, J., Li, W., Yun-sheng, B., & Wei, F. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0153 · Cited by 45 · see citing works
Kurnaz, E., Baykan, E. K., Türkyılmaz, A., Yaralı, O., Abalı, Z. Y., Turan, S., Bereket, A., Çayır, A., & Güran, T. (2020) · Hormone Research in Paediatrics · doi:10.1159/000515079 · Cited by 44 · see citing works
Gohin, M., Bobe, J., & Chesnel, F. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-18 · Cited by 39 · see citing works
Genetics of Hypertensive Syndrome
Martínez‐Aguayo, A., & Fardella, C. (2009) · Hormone Research in Paediatrics · doi:10.1159/000208798 · Cited by 37 · see citing works
Self-citationKatsumata, N., Satoh, M., Mikami, A., Mikami, S., Nagashima‐Miyokawa, A., Sato, N. S., Yokoya, S., & Tanaka, T. (2001) · Hormone Research in Paediatrics · doi:10.1159/000049986 · Cited by 34 · see citing works
17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
Xu, S., Hu, S., Yu, X., Zhang, M., & Yang, Y. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.6029 · Cited by 32 · see citing works
CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency
Yao, F., Huang, S., Kang, X., Zhang, W., Wang, P., & Tian, Q. (2012) · Gynecological Endocrinology · doi:10.3109/09513590.2012.705373 · Cited by 33 · see citing works
Qiao, J., Chen, X., Zuo, C., Gu, Y., Liu, B., Liang, J., Lu, Y., Tang, J., Wu, Y., Chen, M., et al. (2010) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03607.x · Cited by 30 · see citing works
Suzuki, Y., Nagashima, T., Nomura, Y., Onigata, K., Nagashima, K., & Morikawa, A. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.1.4516 · Cited by 29 · see citing works
Fontenele, R., Costa‐Santos, M., & Kater, C. E. (2017) · Endocrine Practice · doi:10.4158/ep171987.or · Cited by 28 · see citing works
Congenital Adrenal Hyperplasia: Molecular Genetics and Alternative Approaches to Treatment
Stratakis, C. A., & Rennert, O. M. (1999) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408369991239222 · Cited by 26 · see citing works
Xu, Y., Jiang, S., Yan, Z., Niu, Y., Du, W., Liu, B., Han, B., Liu, X., Zhao, S., Song, H., et al. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac029 · Cited by 26 · see citing works
Two Novel Mutations Found in a Patient with 17α-Hydroxylase Enzyme Deficiency
Ergun-Longmire, B., Auchus, R. J., Papari-Zareei, M., Tansil, S., Wilson, R. C., & New, M. I. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-0469 · Cited by 27 · see citing works
Han, B., Xue, L., Fan, M., Zhao, S., Liu, W., Zhu, H., Cheng, T., Lu, Y., Cheng, K., Song, H., et al. (2016) · Endocrine · doi:10.1007/s12020-016-0957-y · Cited by 26 · see citing works
Adrenal Androgens and Androgen Precursors—Definition, Synthesis, Regulation and Physiologic Actions
Turcu, A. F., Smith, J. M., Auchus, R. J., & Rainey, W. E. (2014) · Comprehensive physiology · doi:10.1002/j.2040-4603.2014.tb00590.x · Cited by 26 · see citing works
Hahm, J. R., Kim, D. R., Jeong, D. K., Chung, J. H., Lee, M., Min, Y., Kim, K., & Lee, M. (2003) · Metabolism · doi:10.1053/meta.2003.50080 · Cited by 24 · see citing works
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population
Bao, X., Ding, H., Xu, Y., Cui, G., He, Y., Yu, X., & Wang, D. W. (2011) · Clinica Chimica Acta · doi:10.1016/j.cca.2011.03.019 · Cited by 23 · see citing works
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population
Alswailem, M. M., Alzahrani, O., Alhomaidah, D. S., Alasmari, R., Qasem, E., Murugan, A. K., Alsagheir, A., Brema, I. A., Abbas, B. B., Almehthel, M. S., et al. (2017) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.022 · Cited by 19 · see citing works
Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency
Bee, Y. M., Manju, C., Papari-Zareei, M., & Auchus, R. J. (2011) · Gynecological Endocrinology · doi:10.3109/09513590.2011.631625 · Cited by 19 · see citing works
Türkkahraman, D., Güran, T., Ivison, H. E., Griffin, A., Vijzelaar, R., & Krone, N. P. (2015) · Sexual Development · doi:10.1159/000375183 · Cited by 15 · see citing works
Lee, L.-S., Shu, W.-J., Wu, C.-M., Hsieh, C.-H., Chen, S.-M., Hu, C., Chen, W., & Chung, B. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.01.003 · Cited by 15 · see citing works
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency
Tian, Q., Yao, F., Zhang, Y., Tseng, H., & Lang, J. (2011) · Gynecological Endocrinology · doi:10.3109/09513590.2011.593665 · Cited by 14 · see citing works
Zhang, D., Yao, F., Luo, M., Wang, Y., Tian, T., Deng, S., & Tian, Q. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.978026 · Cited by 13 · see citing works
Nájera, N., Garibay-Nieto, N., Pastrana, Y., Lara, I. P., Peña, Y. R., Duran, J. P., Coyote, N., Hidalgo, A., Kofman‐Alfaro, S., & Queipo, G. (2009) · Endocrine Pathology · doi:10.1007/s12022-009-9088-9 · Cited by 13 · see citing works
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia
Liu, Q., Wang, L.-A., Su, J., Tong, D., Lan, W., Wang, L., Liu, G., Zhang, J., Zhang, V. W., Zhang, D., et al. (2018) · Endocrine Connections · doi:10.1530/ec-18-0273 · Cited by 12 · see citing works
Martínez‐Aguayo, A., Carvajal, C. A., Campino, C., Marlene Aglony, I., Bolte, L., García, H., & Fardella, C. (2010) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2010.052 · Cited by 12 · see citing works
Self-citationAndrogen-metabolizing enzymes: A structural perspective
Manenda, M. S., Hamel, J., Masselot--Joubert, L., Picard, M.-È., & Shi, R. (2016) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2016.02.021 · Cited by 11 · see citing works
Al‐Agha, A., Ah, O., & Al-Tamimi (2012) · PubMed · Cited by 12 · see citing works
Won, G.-S., Chiu, C., Tso, Y.-C., Jenq, S.-F., Cheng, P.-S., & Jap, T. (2007) · Metabolism · doi:10.1016/j.metabol.2006.11.009 · Cited by 12 · see citing works
Breder, I. S. S., Garmes, H. M., Mazzola, T. N., Maciel‐Guerra, A. T., de Mello, M. P., & Guerra‐Júnior, G. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0521 · Cited by 11 · see citing works
17-Hydroxylase/17,20 Lyase Deficiency Diagnosed during Childhood
Wolthers, O. D., Rumsby, G., Techatraisak, K., Honour, J. W., & Hindmarsh, P. C. (2002) · Hormone Research in Paediatrics · doi:10.1159/000057964 · Cited by 11 · see citing works
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Mello, M. P. D., Bachega, T. A. S. S., Costa-Santos, M. D., Mermejo, L. M., & Castro, M. D. (2002) · Arquivos Brasileiros de Endocrinologia & Metabologia · doi:10.1590/s0004-27302002000400017 · Cited by 11 · see citing works
Xia, J., Liu, F., Wu, J., Xia, Y., Zhao, Z., Zhao, Y., Ren, H., & Kong, X. (2020) · Endocrine Practice · doi:10.4158/ep-2020-0478 · Cited by 10 · see citing works
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
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Asirvatham, A. R., Balachandran, K., Jerome, P., Venkatesan, V., Koshy, T., & Mahadevan, S. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0050 · Cited by 9 · see citing works
Cao, Y., Zhao, Z., Lü, L., Zhang, X., Zhang, W., Sun, B., Tong, A., Chen, S., Wang, X., Mao, J., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae414 · Cited by 8 · see citing works
Jiang, S., Xu, Y., Qiao, J., Wang, Y., & Kuang, Y. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.970190 · Cited by 7 · see citing works
Camats, N., Üstyol, A., Atabek, M. E., Dick, B., & Flück, C. E. (2015) · Clinical Case Reports · doi:10.1002/ccr3.343 · Cited by 7 · see citing works
Chen, H., Chen, Y., Mao, H., Huang, H., & Lou, X. (2023) · Blood Pressure · doi:10.1080/08037051.2023.2195008 · Cited by 6 · see citing works
Genetic Deficiencies of Cytochrome P450c17 (CYP17A1)
Auchus, R. J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00009-0 · Cited by 6 · see citing works
Clinical and genetic analysis for two Chinese siblings with 17α-hydroxylase/17,20-lyase deficiency
Zhou, Q., Wu, C., Wang, L., Zheng, J., Zheng, C., Jin, J., Qian, Y., & Ni, L. (2011) · Gynecological Endocrinology · doi:10.3109/09513590.2011.633648 · Cited by 6 · see citing works
Molekularbiologie, Klinik und Therapie steroidbedingter Hypertonien
Peters, J., Hampf, M., Peters, B., & Bernhardt, R. (1998) · Springer eBooks · doi:10.1007/978-3-642-80360-4_13 · Cited by 5 · see citing works
Yu, H., Liu, X., Nie, Z., & Xia, Y. (2023) · International Heart Journal · doi:10.1536/ihj.22-407 · Cited by 4 · see citing works
P450c17—The Qualitative Regulator of Steroidogenesis
Miller, W. L. (1999) · Humana Press eBooks · doi:10.1007/978-1-59259-697-3_8 · Cited by 3 · see citing works
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Self-citationXiao, H., Zhang, H., Li, T., Wu, D., Qin, L., Wang, T., Zhang, B., & Liao, S. (2015) · Genetics and Molecular Research · doi:10.4238/2015.august.10.12 · Cited by 1 · see citing works
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Auchus, R. J. (2012) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2012.11.016 · Cited by 1 · see citing works
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Fontenele, R., Costa‐Barbosa, F. A., Costa‐Santos, M., Batista, R. L., Mermejo, L. M., Mendonca, B. B., de Castro, M., Guerra‐Júnior, G., & Kater, C. E. (2025) · Clinical Endocrinology · doi:10.1111/cen.15261
- Authors
- Fardella, C. E., Zhang, L. H., Mahachoklertwattana, P., Lin, D., & Miller, W. L.
- Affiliations
- University of California, San Francisco (US)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1993-08
- Volume
- 77
- Issue
- 2
- Pages
- 489-493
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2041534377
- Cited by
- 72
- References
- 22
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 2 · 2022: 3 · 2021: 1 · 2020: 3 · 2018: 3 · 2017: 3 · 2016: 4 · 2015: 6 · 2014: 2 · 2013: 3 · 2012: 3
- FWCI
- 0.26
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (1f05tw004604-01, 5r01dk042154-09)
- Fogarty International Center (F05-TW04604)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, DK 42154, R01DK037922)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Keywords
- 17-hydroxylase deficiency, P450c17, CYP17 gene, 17,20-lyase activity, cortisol production, sex steroid biosynthesis, mineralocorticoid excess, hypertension, congenital adrenal hyperplasia, homozygous mutation, site-directed mutagenesis
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Aldehyde-Lyases, Amino Acid Sequence, Base Sequence, Cytochrome P-450 Enzyme System, DNA, Female, Homozygote, Humans, Hypertension, Hypokalemia, Molecular Sequence Data, Pregnanediol, Pregnanetriol, 17-Hydroxycorticosteroids, Blotting, Southern, Blotting, Western, Polymerase Chain Reaction, Mutagenesis, Site-Directed, Sequence Deletion
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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