Results 31 to 40 of about 1,305 (130)

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review

BMC Pediatrics, 2019
Background Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX).
Maoqiang Tian, Yi Qu, Lingyi Huang, Xiaojuan Su, Shiping Li, Junjie Ying, Fengyan Zhao, Dezhi Mu   +7 more
doaj   +1 more source

Detection of Arachnomelia Syndrome in Simmental Cattle in Türkiye. [PDF]

Vet Med Sci
The first identification of MOCS1‐related Arachnomelia Syndrome in Simmental cattle in Türkiye reveals a 1.03% carrier rate. Genetic screening and removal of carriers are recommended to prevent the spread of this lethal hereditary disorder. ABSTRACT Hereditary diseases in cattle lead to economic losses across various breeds worldwide, with arachnomelia
Temizkan MC, Sonmez G, Sayar E.
europepmc   +2 more sources

Gene-Based Genome-Wide Association Analysis in European and Asian Populations Identified Novel Genes for Rheumatoid Arthritis. [PDF]

PLoS ONE, 2016
Rheumatoid arthritis (RA) is a complex autoimmune disease. Using a gene-based association research strategy, the present study aims to detect unknown susceptibility to RA and to address the ethnic differences in genetic susceptibility to RA between ...
Hong Zhu, Wei Xia, Xing-Bo Mo, Xiang Lin, Ying-Hua Qiu, Neng-Jun Yi, Yong-Hong Zhang, Fei-Yan Deng, Shu-Feng Lei   +8 more
doaj   +1 more source

Tissue-specific Gene Expression Prediction Associates Vitiligo with SUOX through an Active Enhancer

, 2018
Vitiligo is an autoimmune disease featuring destruction of melanocytes, which results in patchy depigemtation of skin and hair; two vitiligo GWAS studies identified multiple significant associations, including SNPs in 12q13.2 region.
Rui Chen, Zhihua Qi, Shiqi Xie, Haji A. Aisa, Gary C. Hon, Yongtao Guan   +5 more
core   +1 more source

Shared Genetic Architecture Between Atopic Dermatitis and Autoimmune Diseases. [PDF]

Int J Mol Sci
Atopic dermatitis (AD) and autoimmune diseases exhibit epidemiological comorbidity, yet the shared genetic architecture remains incompletely understood. We investigated the genetic overlap between AD and three autoimmune disorders including inflammatory ...
Lazanas P, Antonatos C, Tsoumani KT, Sgourou A, Vasilopoulos Y.   +4 more
europepmc   +2 more sources

Could perturbed fetal development of the ovary contribute to the development of polycystic ovary syndrome in later life?

PLoS ONE, 2020
Polycystic ovary syndrome (PCOS) affects around 10% of young women, with adverse consequences on fertility and cardiometabolic outcomes. PCOS appears to result from a genetic predisposition interacting with developmental events during fetal or perinatal ...
Monica D Hartanti, Roseanne Rosario, Katja Hummitzsch, Nicole A Bastian, Nicholas Hatzirodos, Wendy M Bonner, Rosemary A Bayne, Helen F Irving-Rodgers, Richard A Anderson, Raymond J Rodgers   +9 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Status Epilepticus Alters the Function of Brain‐Derived Extracellular Vesicles

Journal of Extracellular Vesicles, Volume 15, Issue 6, June 2026.
ABSTRACT Epilepsy is a neurological disorder characterised by recurrent spontaneous seizures. Approximately 30% of patients are unable to achieve adequate seizure control with available medications, highlighting the need to better understand disease mechanisms and develop improved treatments.
Samantha L. Reed, Yilin Wang, Yangping Li, Guoku Hu, Jingjing Yang, Bing Yao, Andrew Escayg   +6 more
wiley   +1 more source

Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.

PLoS Genetics, 2011
One major expectation from the transcriptome in humans is to characterize the biological basis of associations identified by genome-wide association studies. So far, few cis expression quantitative trait loci (eQTLs) have been reliably related to disease
Maxime Rotival, Tanja Zeller, Philipp S Wild, Seraya Maouche, Silke Szymczak, Arne Schillert, Raphaele Castagné, Arne Deiseroth, Carole Proust, Jessy Brocheton, Tiphaine Godefroy, Claire Perret, Marine Germain, Medea Eleftheriadis, Christoph R Sinning, Renate B Schnabel, Edith Lubos, Karl J Lackner, Heidi Rossmann, Thomas Münzel, Augusto Rendon, Cardiogenics Consortium, Jeanette Erdmann, Panos Deloukas, Christian Hengstenberg, Patrick Diemert, Gilles Montalescot, Willem H Ouwehand, Nilesh J Samani, Heribert Schunkert, David-Alexandre Tregouet, Andreas Ziegler, Alison H Goodall, François Cambien, Laurence Tiret, Stefan Blankenberg   +35 more
doaj   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, Volume 109, Issue 4, Page 730-741, April 2026.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source