Results 71 to 80 of about 2,976 (183)

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report

BMC Musculoskeletal Disorders
Background Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits.
Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia   +8 more
doaj   +1 more source

Mechanisms Underlying the Initiation and Termination of Collective Cell Migration: Perspectives for Understanding Development and Cancer Metastasis

BioEssays, Volume 48, Issue 4, April 2026.
How collective cell migration starts and stops is a fundamental question but remains poorly understood. This review discusses the distinct mechanisms in in vivo models and cancer metastasis that define the regulatory pathways and collective features governing the initiation and termination of collective cell migration.
Guangxia Miao
wiley   +1 more source

Exclusion of Mutations in the Dysferlin Alternative Exons 1 of DYSF-v1, 5a, and 40a in a Cohort of 26 Patients

, 2010
International audienceMutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM\₀03494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational spectrum, and genetic diagnosis
Bartoli, Marc, Lévy, Nicolas, Labelle, Veronique, Borges, Ana, Krahn, Martin   +4 more
core   +1 more source

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy

Chinese Medical Journal, 2016
Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease. Methods: Eighty-nine index patients were included in the study.
Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang   +5 more
doaj   +1 more source

Multiorgan Molecular Landscape of Severe COVID‐19 Revealed by Consensus Gene Signatures and RAB8B Targeting

Journal of Medical Virology, Volume 98, Issue 4, April 2026.
ABSTRACT Severe COVID‐19 involves hyperinflammation and multiorgan pathology, but consistent gene signatures remain elusive. We aimed to identify consensus transcriptomic signatures and molecular mechanisms in severe COVID‐19. We performed an integrative analysis of 39 studies spanning 11 tissue types, 1551 bulk RNA‐seq samples, and over 2 million ...
Jonathan Peña Avila, Peter Park, Youvika Singh, Paulo P. Amaral, Ícaro Castro, Felipe Ten‐Caten, Viviane Schuch, André N. A. Gonçalves, Jeevan Giddaluru, Mauro César Cafundó Morais, Rodrigo L. T. Ogava, Thiago Lubiana, Gabriel Amoroso de Castro, Rodrigo Aquino, Luiz Durão, Júlia Raspante Martins, Leandro Jimenez, André G. Costa‐Martins, Patrícia Gonzalez‐Dias, Thiago Dominguez Crespo Hirata, Thomaz Lüscher Dias, Débora Guerra Peixe, Adriana Simizo, Juan Carlo Santos e Silva, Amanda Pereira Vasconcelos, Marcelo Berçot Rodrigues, Bianca G. Castelucci, João Victor Virgillio‐da‐Silva, Larissa Menezes, Pedro M. Moraes‐Vieira, Otavio Cabral‐Marques, Helder I. Nakaya   +31 more
wiley   +1 more source

Ectopic expression of dysf induces fold formation and Rho1 activation.

, 2018
(A-D) Apical view (A and C) and Z-section (B and D) of a region of the wing pouch (blue square in the schematic wing disc). The ptc-Gal4 driver is used to express different UAS constructs in a band of cells of the anterior compartment of the wing pouch ...
Carlos Estella (149879), Sergio Córdoba (645937)   +1 more
core   +1 more source

Genomics Insights Into High‐Latitude Adaptation of Tibetan Macaques

Advanced Science, Volume 13, Issue 14, 9 March 2026.
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Rusong Zhang, Ying Hu, Yang Teng, Jiwei Qi, Yangzhen Ciren, Lin Zhang, Qiao Du, Wencai Xu, Liang Zhou, Zhenxin Fan, Jinchuan Xing, Ming Li, Jing Li   +12 more
wiley   +1 more source

Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy

Nature Communications
Dystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies.
Helena Escobar, Silvia Di Francescantonio, Julia Smirnova, Robin Graf, Stefanie Müthel, Andreas Marg, Alexej Zhogov, Supriya Krishna, Eric Metzler, Mina Petkova, Oliver Daumke, Ralf Kühn, Simone Spuler   +12 more
doaj   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +1 more source