Results 51 to 60 of about 7,344,533 (183)

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

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

Data in Brief, 2018
This article presents the data set regarding the functional characterization of mutations in CYP21A2 gene in CAH patients as described in “Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital ...
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
doaj   +1 more source

An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1

International Journal of Endocrinology, 2021
X-linked congenital adrenal hypoplasia due to NR0B1 mutation is characterized by hypogonadotropic hypogonadism (HH) and infertility. Here, we describe a novel pathogenic frameshift variant in NR0B1 associated with congenital adrenal hypoplasia by whole ...
Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh   +4 more
doaj   +1 more source

CYP21A2 intronic variants causing 21-hydroxylase deficiency

, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P ...
Cecilia Zuppi, Capoluongo E, Rizza R, Zuppi C, Carrozza, C, Alessandra Costella, Cinzia Carrozza, Capoluongo, E., Rizza, R, Concolino P, Costella A, Paola Concolino, Roberta Rizza, Ettore Capoluongo, Costella, A, Zuppi, C, Carrozza C   +16 more
core   +1 more source

Genetic Correlation and Causal Inference Between Female Fat Distribution and Preeclampsia: An Integrative Genomic Study

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
We conducted integrative genomic analyses of large‐scale GWAS summary data to explore the shared polygenic architecture and causal link between female fat distribution (WHRadjBMI) and preeclampsia, identifying novel loci and critical vascular–immune pathways with implications for risk prediction.
Man Wang, Li Huang, Danfeng Zhang, Fengmei Yang, Lihua Wu, Bo Gao   +5 more
wiley   +1 more source

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

Molecular Genetics and Metabolism Reports, 2014
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel.
Christopher N. Greene, Suzanne K. Cordovado, Daniel P. Turner, Lisa M. Keong, Dorothy Shulman, Patricia W. Mueller   +5 more
doaj   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source