Results 121 to 130 of about 6,020 (257)

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency [PDF]

, 2010
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
A Friães, A Paldosttir, A Szilagyi, AA Killeen, AW Dangel, AW Dodds, B Haglund-Stengler, CA Blanchong, CE Keegan, CF Taylor, D L'Allemand, EK Chung, FC Soardi, Fernanda B Coeli, Fernanda C Soardi, G Guerra-Junior, Gil Guerra-Júnior, HH Lee, HH Lee, HH Lee, HH Lee, Ivy F Lau, J Sambrook, JH Kyllo, JW Werkmeister, KM Sørensen, Luciana C Paulino, M De Araujo, M Kharrat, M Tassabehji, Marcela de Araújo, Maria TM Baptista, Maricilda P de-Mello, MB Fasano, MC Carroll, MC Carroll, MI New, MS Figueiredo, P Concolino, P Koppens, P Sinnott, PA Donohoue, PA Donohoue, PC White, PC White, PC White, PC White, PF Koppens, PF Koppens, PF Koppens, PM Schneider, R Menassa, RC Wilson, Reginaldo J Petroli, Renan D Bernardi, S Kleinle, S Parajes, Sofia HV de Lemos-Marini, T Torresani, TA Bachega, X Chu, X Chu, Y Higashi, Y Morel, Z Yang   +64 more
core   +3 more sources

Management aspects of congenital adrenal hyperplasia during adolescence and transition to adult care

Clinical Endocrinology, Volume 101, Issue 4, Page 332-345, October 2024.
Abstract The adolescent period is characterised by fundamental hormonal changes, which affect sex steroid production, cortisol metabolism and insulin sensitivity. These physiological changes have a significant impact on patients with congenital adrenal hyperplasia (CAH).
Chamila Balagamage, Amynta Arshad, Yasir S. Elhassan, Wogud Ben Said, Ruth E. Krone, Helena Gleeson, Jan Idkowiak   +6 more
wiley   +1 more source

The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China

Clinical, Cosmetic and Investigational Dermatology, 2021
Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Yang T, Wu WJ, Tian LM, Zhang DF, Yang XY, Qi J, Tu Y, He L   +7 more
doaj  

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts [PDF]

, 2021
Vanita Berry, Nikolas Pontikos, Alex Ionides, Angelos Kalitzeos, Roy A. Quinlan, Michel Michaelides   +5 more
openalex   +1 more source

Discovery of Novel Non-Steroidal Cytochrome P450 17A1 Inhibitors as Potential Prostate Cancer Agents [PDF]

, 2020
The current study presents the design, synthesis, and evaluation of novel cytochrome P450 17A1 (CYP17A1) ligands. CYP17A1 is a key enzyme in the steroidogenic pathway that produces androgens among other steroids, and it is implicated in prostate cancer ...
Andersen, Kasper L., Björkling, Fredrik, Brixius-Anderko, Simone, Jørgensen, Flemming Steen, Olsen, Lars, Rogova, Oksana, Scott, Emily E., Wróbel, Tomasz M., Yadav, Rahul   +8 more
core   +1 more source

Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland

Clinical Endocrinology, Volume 101, Issue 4, Page 386-396, October 2024.
Abstract Background Congenital adrenal hyperplasia (CAH) encompasses a rare group of autosomal recessive disorders, characterised by enzymatic defects in steroidogenesis. Heterogeneity in management practices has been observed internationally. The International Congenital Adrenal Hyperplasia registry (I‐CAH, https://sdmregistries.org/) was established ...
Lauren Madden Doyle, S. Faisal Ahmed, Jessica Davis, Sue Elford, Yasir S. Elhassan, Lynette James, Neil Lawrence, Sofia Llahana, Grace Okoro, D. Aled Rees, Jeremy W. Tomlinson, Michael W. O'Reilly, Nils P. Krone   +12 more
wiley   +1 more source

Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish European, Finnish, and Ashkenazi Jewish populations

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract American College of Medical Genetics and Genomics (ACMG) recommends offering Tier 3 carrier screening to pregnant patients and those planning a pregnancy for conditions with a carrier frequency of ≥1/200 (96 genes for autosomal recessive [AR] conditions).
Miska Kandolin, Minna Pöyhönen, Eveliina Jakkula   +2 more
wiley   +1 more source

Hiperplasia Congénita da Suprarrenal por Deficiência de 21-Hidroxílase: Correlação Genótipo-Fenótipo

Acta Médica Portuguesa, 2015
Introdução: A hiperplasia congénita da suprarrenal por deficiência de 21-hidroxílase constitui uma das doenças hereditárias mais comuns. Resulta de diferentes mutações no gene CYP21A2 e, na maioria dos casos, a gravidade da doença correlaciona-se com a ...
Catarina Mendes, Inês Vaz Matos, Luís Ribeiro, Maria João Oliveira, Helena Cardoso, Teresa Borges   +5 more
doaj   +1 more source

Molecular genetic strategy for diagnosis of congenital adrenal hyperplasia in Serbia [PDF]

, 2017
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common endocrine diseases, yet genetic diagnosis is among the most complicated of all monogenic disorders.
Karan-Đurašević, Teodora, Komazec, Jovana, Milacić, Iva, Pavlović, Sonja, Skakić, Anita, Stojiljković, Maja, Ugrin, Milena   +6 more
core   +1 more source

Parallel evolution of integrated craniofacial traits in trophic specialist pupfishes

Ecology and Evolution, Volume 14, Issue 7, July 2024.
Here, we mapped the genetic basis of 30 craniofacial and skeletal traits in two independent lake populations of novel trophic specialist pupfishes endemic to San Salvador Island in the Bahamas. These ecomorphs are scale‐eating and molluscivore specialists, respectively, with parallel phenotypes across several lake populations on the island.
Michelle E. St. John, Julia C. Dunker, Emilie J. Richards, Stephanie Romero, Christopher H. Martin   +4 more
wiley   +1 more source