Results 111 to 120 of about 2,980 (198)

Transcript Patterns of Bovine <i>CYP21A2</i> and Its Pseudogene in Adrenal and Ovarian Tissues. [PDF]

Genes (Basel)
Wozniak J, Stachowiak M, Switonski M, Nowacka-Woszuk J.   +3 more
europepmc   +1 more source

Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing. [PDF]

Orphanet J Rare Dis
Yang Y, Wang Y, Zhang B, Yu B.
europepmc   +1 more source

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21‑hydroxylase deficiency in a Chinese pedigree

, 2018
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Fang Li, Jin Xu, Qingbo Guan, Chao Xu   +6 more
openalex   +2 more sources

Renalase stimulates aldosterone production via PMCA4b/cAMP in NCI-H295R cells. [PDF]

J Enzyme Inhib Med Chem
Fu R, Huang M, Liu T, Chen Y, Li X, Jiang W.   +5 more
europepmc   +1 more source

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

Αναζήτηση του είδους και της συχνότητας των μοριακών διαταραχών του γονιδίου CYP21A2 ( ΣΥΕ ) στο γενικό πληθυσμό, σε διάφορες περιοχές της Ελλάδος

, 2008
Αντωνία Δασταμάνη
openalex   +2 more sources

PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

, 2021
Zachary Stephens, Dragana Milošević, Benjamin R. Kipp, Stefan K. Grebe, Ravishankar K. Iyer, Jean‐Pierre Kocher   +5 more
openalex   +1 more source

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Graves LE, Christina S, Mullany KL, Alexander IE, Falhammar H.   +4 more
europepmc   +1 more source

Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy

, 2010
Eliécer Coto, Beatriz Tavira, Rafael Marín, Francisco Ortega, Carlos López‐Larrea, Marta Ruiz‐Ortega, Alberto Ortíz, Marta Díaz, Ana I. Corao, Belén Alonso, Victoria Álvarez   +10 more
openalex   +2 more sources

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source