Results 61 to 70 of about 7,344,533 (183)

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

Frontiers in Genetics
Background21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Tian Lan, Jin Wang, Kaibi Chen, Jianru Zhang, Xiaohong Chen, Hui Yao   +5 more
doaj   +1 more source

Presentation and Management of Addison's Disease in a 10‐Year‐Old Boy: A Case Report

iLABMED, Volume 4, Issue 1, Page 59-63, March 2026.
ABSTRACT Addison's disease, or primary adrenal insufficiency, is a rare endocrine disorder characterized by impaired adrenal hormone production. We report a case of a 10‐year‐old boy with congenital adrenal hyperplasia and secondary Addison's disease on long‐term corticosteroid therapy who presented with recurrent non‐bilious vomiting, low‐grade fever,
Srinivasan Sivannan, Mohammed Azhar Hussain, Syed Mohammed Hussaini, Pasumarthi Tejashree, Karthikeyan Elumalai   +4 more
wiley   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

[From gene to disease: adrenogenital syndrome and the CYP21A2 gene]

, 2007
Contains fulltext : 53065.pdf (Publisher’s version ) (Open Access)Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis.
Hoefsloot, L.H., Claahsen-van der Grinten, H.L.   +1 more
core   +1 more source

Diagnosis of mutations in the CYP21A2 gene

Endocrine Surgery
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E. S. Podshivalova, E. A. Vetchinkina, T. Pogoda, M. V. Utkina   +3 more
semanticscholar   +1 more source

Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Aldosterone synthase deficiency is a rare cause of neonatal salt‐wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life‐threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Mian Muhammad Hassan Ahmed, Rehmana Waris, Samra Batool, Rahmat Gul Omarzai, Abdur Rehman   +4 more
wiley   +1 more source

Long‐Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility

Reproductive Medicine and Biology, Volume 25, Issue 1, January/December 2026.
ABSTRACT Purpose This study aimed to evaluate the utility of long‐read sequencing (LRS) in identifying variants of congenital adrenal hyperplasia (CAH) and autosomal dominant polycystic kidney disease (ADPKD) in infertile men, which may help further clarify genetic diagnosis and support genetic counseling and reproductive management. Methods A total of
Xiao Li, Chang Liu, Wen Liu, Xianlong Wang, Jiaolong Liu, Feifei Cai, Shaoming Lu   +6 more
wiley   +1 more source

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency

Orphanet Journal of Rare Diseases
Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct ...
Yanjie Xia, Feng Yu, Ying Bai, Lili Jiang, Panlai Shi, Zhengwen Jiang, Xiangdong Kong   +6 more
doaj   +1 more source

Pregnancy-associated changes of peroxisome proliferator-activated receptor delta (PPARD) and cytochrome P450 family 21 subfamily A member 2 (CYP21A2) expression in the bovine corpus luteum

The Journal of Reproduction and Development, 2020
We investigated gene expression profiles of the corpus luteum (CL) at the time of maternal recognition to evaluate the functional changes of the CL during early pregnancy in cows and help improve reproductive efficiency and avoid defective fetuses ...
Ryosuke SAKUMOTO, Ken-Go HAYASHI, Misa HOSOE, Kosuke IGA, Keiichiro KIZAKI   +4 more
doaj   +1 more source

Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease

Human Mutation, Volume 2026, Issue 1, 2026.
The observational studies confirmed the high prevalence of metabolic dysfunction–associated steatotic liver disease (MASLD) in patients with Type 2 diabetes mellitus (T2DM), but whether this reflects a shared genetic etiology and exists underlying causal relationships remains unknown. Here, we utilized the largest scale cross‐trait analysis from genome‐
Zijun Zhu, Hailong Li, Xin Wang, Xinyu Chen, Liang Cheng, Priya Gusain   +5 more
wiley   +1 more source