Results 61 to 70 of about 4,947 (206)

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

Estudo de variações de sequência do promotor do gene CYP21A2 em pacientes com suspeita de hiperplasia supra-renal congénita [PDF]

, 2015
Mestrado em Bioquímica - Métodos BiomolecularesA Hiperplasia Supra-Renal Congénita (HSRC), causada por deficiência na enzima 21-hidroxilase, constitui uma das doenças autossómicas recessivas mais frequentes.
Santos, Ana Patrícia Teixeira dos
core  

Congenital Adrenal Hyperplasia in Adults [PDF]

, 2010
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid synthesis. More than 95% of CAH cases are caused by reduced 21-hydroxylase function leading to variable extent of cortisol and aldosterone deficiency in ...
Falhammar, Henrik
core   +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

Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India

Indian Journal of Endocrinology and Metabolism
Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD).
Lavanya Ravichandran, Hesarghatta S. Asha, Sarah Mathai, Nihal Thomas, Aaron Chapla   +4 more
doaj   +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

Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients [PDF]

, 2011
Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2).
Aysha H Khan, Muniba Aban, Jamal Raza, Naeem ul Haq, Abdul Jabbar, Tariq Moatter   +5 more
core   +4 more sources

CYP21A2 gene mutationsin the women with recurrent miscarriage

Journal of obstetrics and women's diseases, 2012
Miscarriage is one of the major problems of modern reproduction. Total frequency of micarrieges is estimated as 15–27 % of total pregnancies. Recurrent Miscarriage (RM) (three or more spontaneous abortions) is responsible for almost 20 % of total miscarrieges. The population frequency of RM fluctuates from 2 % to 5 %.
Natalya Sergeevna Osinovskaya, Iskender Yuryevich Sultanov, Tatyana Eduardovna Ivaschenko, Vladislav Sergeevich Baranov   +3 more
openaire   +2 more sources

Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS Short title: CYP21A2 genotyping using MALDI-TOF MS

, 2023
Abstract Background Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) based on hormonal testing is successfully implemented in many countries. However, this method cannot detect non-classic CAH and has high false positive rates. Methods This study aimed to develop a novel MALDI-TOF MS assay that can identify common variants and
Xiaoshan Yin, Yiming Lin, Ting Zhang, Haixia Miao, Lingwei Hu, Zhenzhen Hu, Dou Zhou, Benqing Wu, Xinwen Huang   +8 more
openaire   +1 more source