Results 51 to 60 of about 6,020 (257)

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2023
Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid.
Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +3 more
doaj   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene [PDF]

, 2014
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases.
Bruque, Carlos David, Buzzalino, Noemí Delia, Ceballos, Nora Raquel, Dain, Liliana Beatriz, Gómez Acuña, Luciana Inés, Scaia, María Florencia, Stivel, M., Taboas, Melisa Ivana   +7 more
core   +3 more sources

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Frontiers in Endocrinology, 2022
Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD).
Mirjana Kocova, Paola Concolino, Henrik Falhammar, Henrik Falhammar   +3 more
doaj   +1 more source

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions [PDF]

, 2002
Steroid 21-hydroxylase deficiency is caused by a defect in the CYP21A2 gene. CYP21A2, the adjacent complement C4 gene and parts of the flanking genes RP1 and TNXB constitute a tandemly duplicated arrangement in the central (class III ...
Degenhart, H.J. (Herman), Hoogenboezem, T. (Theo), Koppens, P.F.J.   +2 more
core   +2 more sources

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

Steroid 21-hydroxylase gene variants and late-life depression

BMC Research Notes, 2021
Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components
Marie-Laure Ancelin, Joanna Norton, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan   +4 more
doaj   +1 more source

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency [PDF]

, 2010
Objective: Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency(ORD) present with disordered sex development and glucocorticoid deficiency.
Arlt, Bebia, Chang, de Morais, Dominique Maiter, Dorota Tomalik-Scharte, Fl  ck, Fuhr, Gomes, Hannah E Ivison, Henderson, Jetter, Julia Kirchheiner, Kelley, Kirchheiner, Kranendonk, Nebert, Nicolo, Parkinson, Porter, Ribes, Sachse, Tantcheva-Po  r, Tomalik-Scharte, Uwe Fuhr, Wiebke Arlt   +25 more
core   +2 more sources

Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia

medRxiv
Jean Monlong, Xiao Chen, Hayk Barseghyan, William J. Rowell, Shloka Negi, Natalie Nokoff, Lauren Mohnach, Josephine Hirsch, Courtney Finlayson, Catherine E. Keegan, Miguel Almalvez, Seth Berger, Ivan de Dios, Brandy McNulty, Alex Robertson, Karen H. Miga, Phyllis Speiser, Benedict Paten, Éric Vilain, Emmanuèle C. Délot   +19 more
openalex   +2 more sources

SAT275 Generation And Characterization Of A Humanized CYP21A2 Mouse Model For Congenital Adrenal Hyperplasia

Journal of the Endocrine Society, 2023
Disclosure: A. Huebner: None. S. Thirumalasetty: None. T. Schubert: None. R. Naumann: None. I. Reichardt: None. M. Rohm: None. D. Landgraf: None. F. Gembardt: None. M.F. Hartmann: None. S.A. Wudy: None. M. Peitzsch: None. N. Reisch: None. K. Koehler, PhD:
Angela Huebner, Shamini Ramkumar Thirumalasetty, Tina Schubert, Ronald Naumann, Ilka Reichardt, M. Rohm, D. Landgraf, Florian Gembardt, Michaela F Hartmann, Stefan A Wudy, Mirko Peitzsch, N. Reisch, K. Koehler   +12 more
semanticscholar   +1 more source