Results 71 to 80 of about 7,344,533 (183)

Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.

, 2009
BACKGROUND: More than 90% of the cases of Congenital Adrenal Hyperplasia (CAH) are associated with mutations in 21-hydroxylase gene (CYP21A2). Up to now, large CYP21A2 rearrangements have been mainly detected by Southern blot analysis, although more ...
TOSCANO, Vincenzo, Zuppi, Cecilia, CAPOLUONGO E., Concolino, Paola, AMEGLIO F, ZUPPI C, Capoluongo, Ettore Domenico, MELLO E, TOSCANO V, CONCOLINO P   +9 more
core   +1 more source

Investigation of Pharmacogenomic Variants in the CYP (P450) Family in Native American Populations of the Brazilian Amazon

International Journal of Genomics, Volume 2026, Issue 1, 2026.
The cytochrome P450 (CYP) enzyme superfamily is essential for xenobiotic metabolism, detoxification pathways, and the regulation of cellular homeostasis. Genetic variability in CYP genes, together with environmental factors, contributes substantially to interindividual and interethnic differences in drug metabolism and therapeutic response.
Lilian Marques de Freitas, Juliana Carla Rodrigues Marcellino, Francisco Cezar Aquino de Moraes, Natasha Monte, Ana Caroline Alves da Costa, Rita de Cássia Calderaro Coelho, Kaio Evandro Cardoso Aguiar, André Mauricio Ribeiro dos Santos, João Farias Guerreiro, Ândrea Ribeiro dos Santos, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos, Khaled F. M. Salem   +13 more
wiley   +1 more source

From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes

Advanced Genetics, Volume 6, Issue 4, December 2025.
This review begins with an introduction, summarizing the research background in pseudogene studies. It then contains three aspects: identification of pseudogenes, detailing their classification and features in metazoan genomes; functional pseudogenes, introducing their reactivation and regulation mechanisms; and pseudogenes’ contribution to species ...
Mengyao Sun, Yanni Ma, Jia Yu
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

Enzyme Research, 2016
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq.
Ruqayah G. Y. Al-Obaidi, Bassam M. S. Al-Musawi, Munib A. Al-Zubaidi, C. Oberkanins, S. Németh, Yusra G. Y. Al-Obaidi   +5 more
semanticscholar   +1 more source

The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort

, 2020
Background 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations is the most popular form of congenital adrenal hyperplasia. It is an autosomal recessive disorder results in the defective synthesis of cortisol and aldosterone.
Y. Liu, J. Zheng, X. Xu, X. Zhang, Y. Zhang, G. Li, G. Liu, C. Cai, J. Shu   +8 more
semanticscholar   +1 more source

Predicting Residual 21‐Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1869-1881, November 2025.
ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini, Robin Michelet, Yersultan Mirasbekov, Qizong Lao, Charles Sukin, Wilhelm Huisinga, Deborah P. Merke, Charlotte Kloft   +7 more
wiley   +1 more source

A Transcriptome‐Wide Association Study Identifies Candidate Susceptibility Loci and Genes for Lung Cancer Risk

Cancer Medicine, Volume 14, Issue 20, October 2025.
A transcriptome‐wide association study identified 40 genes associated with the risk of lung cancer, leveraging gene expression and genotype data from the Genotype‐Tissue Expression (GTEx) project and summary statistics of a genome‐wide association study on lung cancer.
Tianying Zhao, Jiajun Shi, Yaohua Yang, Dan Zhou, Jie Ping, Shuai Xu, Lili Xu, Jie Wu, Xiao‐Ou Shu, Ran Tao, Bingshan Li, Wei Zheng, Jirong Long, Qiuyin Cai   +13 more
wiley   +1 more source

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

Advanced Biomedical Research, 2016
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form.
Mahsa Kolahdouz, M. Hashemipour, H. Khanahmad, Bahareh Rabbani, Mansoor Salehi, A. Rabbani, Arman Ansari, M. Naseri   +7 more
semanticscholar   +1 more source