Results 161 to 170 of about 117,203 (208)

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, Volume 110, Issue 5, Page 527-537, November 2026.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

Clinical Genetics, Volume 110, Issue 5, Page 622-626, November 2026.
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Luana Giovannangeli, Elise Daire, Kahia Messaoudi, Didier Herent, Nathalie Desjeux, Emilie Lacot‐Leriche, Sarah Sauval, Sabine Dirani, Pascal De Groote, Didier Klug, Jean‐Benoit Baudelet, Alexandre Delarue, Olivia Domanski, Pierre‐Alexandre Fontanges, Jamal Ghoumid, Luisa Marsili, Alexis Hermida, Florence Jobic, Guillaume Jedraszak   +18 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2134-2137, October 2026.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

New Gene Discovery in Familial Hypertrophic Cardiomyopathy

Familial hypertrophic cardiomyopathy is a genetic heart disorder which affects 1 in 500 of the population, and can lead to heart failure and sudden death.

core  

Cyclic Mechanical Loading of Cardiomyocytes via Pressure‐Driven Non‐Planar Membrane Deformation in a Bioreactor System

Advanced Science, Volume 13, Issue 55, 5 October 2026.
In this research article, Mansoor and coworkers present a novel device that applies controlled mechanical stimuli to cardiomyocytes using pressure‐driven membrane deformation. By exposing cells to physiologically and pathologically relevant loading conditions, the platform reproduces distinct structural, functional and molecular responses associated ...
Haris Mansoor, Gabrielle Juul, Jil Patel, Heran Pradhan, Gram Hepner, Jackson Jewell, Mark Bardin, Ryan Slusser, Abigail Glezer, Leda Klouda, Melikhan Tanyeri, Anita Saraf   +11 more
wiley   +1 more source

Intermittent Fasting Restores Cardiac Lipid Homeostasis in Diabetic Cardiomyopathy in Association With Akkermansia Muciniphila and 1‐methyl‐L‐histidine

Advanced Science, Volume 13, Issue 55, 5 October 2026.
Intermittent fasting reshapes the gut microbiota in diabetic cardiomyopathy, restoring Akkermansia muciniphila and the microbiota‐associated metabolite 1‐methyl‐L‐histidine. This shift is linked to improved cardiac lipid homeostasis, reduced lipid peroxidation, and attenuated myocardial injury, highlighting a gut microbiota–metabolite–lipid axis in ...
Kaiyuan Jiang, Fen Xiong, Yiwen Peng, Lingfei Meng, Xinran Wang, Yingruo Xu, Tian Tang, Hongchang Gao   +7 more
wiley   +1 more source

A Novel Pak1 Activator Ameliorates ER Stress for HFpEF Therapy

Advanced Science, Volume 13, Issue 60, 28 October 2026.
Chronic metabolic stress is a major contributor to HFpEF progression. Under prolonged metabolic stress, Pak1 activity becomes impaired, contributing to disrupted ER proteostasis, cardiomyocyte apoptosis, fibrosis, and diastolic dysfunction. Mechanistically, Pak1 overexpression activates the ERK1/2–MNK1–eIF4E signaling axis, promotes translational ...
Honglin Xu, Hongyuan Zhang, Tayyiba Azam, Susanne S. Hille, Yingjuan Liu, Min Zi, Jiaqing Lang, He Yu, Yujia Cao, Bernard D. Keavney, Tamer M. A. Mohamed, Jessica M. Miller, Riham R. E. Abouleisa, Ming Xu, Elizabeth J. Cartwright, Oliver J. Müller, Ming Lei, Xin Wang   +17 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Recent Advances in Research on SHP Family Phosphatases: Signal Regulation Mechanisms and Disease Associations

Cell Biochemistry and Function, Volume 44, Issue 10, October 2026.
ABSTRACT The protein tyrosine phosphatase family comprises a large number of members. Among them, Src homology 2 (SH2) domain‐containing protein tyrosine phosphatases (commonly referred to as the SHP family). Members of the SHP family regulate multiple signaling pathways by catalyzing the dephosphorylation of substrate proteins, thereby participating ...
Xuebin Li, Xiaoqing Duan, Nanxiu Liu, Wangjie Tang, Yi He, Dongsheng Zhou, Jianguo Yan, Yali Zhou   +7 more
wiley   +1 more source