Results 21 to 30 of about 7,344,533 (183)

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

BMC Medical Genetics, 2009
Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3.
Toscano Vincenzo, Zuppi Cecilia, Giardina Emiliano, Minucci Angelo, Mello Enrica, Concolino Paola, Capoluongo Ettore   +6 more
doaj   +2 more sources

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

Indian Journal of Endocrinology and Metabolism, 2012
Context: Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene.
Eunice Marumudi, Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini   +5 more
doaj   +2 more sources

Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. [PDF]

PLoS ONE, 2013
The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV.
Julianna Anna Szabó, Ágnes Szilágyi, Zoltán Doleschall, Attila Patócs, Henriette Farkas, Zoltán Prohászka, Kárioly Rácz, George Füst, Márton Doleschall   +8 more
doaj   +3 more sources

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1–3 ins/del variants in CYP21A2 causes non-classical congenital adrenal hyperplasia in a Chinese girl [PDF]

Frontiers in Pediatrics
Congenital adrenal hyperplasia (CAH) is caused by variants in the CYP21A2 gene and subsequently results in 21-hydroxylase deficiency. The non-classic form of CAH (NCCAH) often occurs in late puberty or in young adults due to a mild excess in postnatal ...
Nan Li, Chao Lu, Harvest F. Gu, Harvest F. Gu, Xiaofei An   +4 more
doaj   +2 more sources

Mutations of the CYP21A2 gene: Association of p.V281L mutation with polycystic ovarian syndrome (PCOS)

Acta Medico-Biotechnica, 2021
Purpose: The CYP21A2 gene encodes the enzyme 21–hydroxilase, which is responsible for the production of steroids. These hormones are key mediators of sexual development and conception.
Š. Stangler Herodež, L. Fijavž, B. Zagradišnik, M. Došen, I. Takač, N. Kokalj-Vokač   +5 more
semanticscholar   +2 more sources

Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Balkan Journal of Medical Genetics, 2015
The objective of this study was to compare the CYP 21A2 genetic profiles of couples with unexplained fertility problems (UFP) with genetic profiles of healthy controls (HCs). Furthermore, we analyzed associations between mutations in the CYP21A2 gene and
Stangler Herodež Š, Fijavž L, Zagradišnik B, Kokalj Vokač N   +3 more
doaj   +3 more sources

Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia

Indian Journal of Pediatrics, 2022
Priyanka Srivastava, Inusha Panigrahi, Rakesh Kumar   +2 more
exaly   +2 more sources

Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology [PDF]

Risk Management and Healthcare Policy
Yibo Chen,1 Qi Yu,2 Lisha Ge,3,4 Lixin Weng,5 Xiaoli Pan,3,4 Xiaoxia Zhou,6 Nani Zhou,6 Yanjie Wang,6 Jia Jia,6 Haibo Li3,4,7 1Department of Clinical Laboratory, Women and Children’s Hospital of Ningbo University, Ningbo, 315012, People’s Republic of ...
Chen Y, Yu Q, Ge L, Weng L, Pan X, Zhou X, Zhou N, Wang Y, Jia J, Li H   +9 more
doaj   +2 more sources

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

Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia

MethodsX, 2022
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contribute ...
Lavanya Ravichandran, Deny Varghese, Parthiban R, Asha H. S, Sophy Korula, Nihal Thomas, Aaron Chapla   +6 more
doaj   +1 more source