Results 51 to 60 of about 2,221 (162)

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

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene [PDF]

Human Mutation, 2011
Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders.
Blandin, Gaëlle, Béroud, Christophe, Labelle, Veronique, Nguyen, Karine, Wein, Nicolas, Hamroun, Dalil, Williams, Brad, Monnier, Nilah, Rufibach, Laura E., Urtizberea, Jon Andoni, Cau, Pierre, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin   +13 more
openaire   +3 more sources

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

Proper Voltage-Dependent Ion Channel Function in Dysferlin-Deficient Cardiomyocytes

Cellular Physiology and Biochemistry, 2015
Background/Aims: Dysferlin plays a decisive role in calcium-dependent membrane repair in myocytes. Mutations in the encoding DYSF gene cause a number of myopathies, e.g. limb-girdle muscular dystrophy type 2B (LGMD2B).
Lena Rubi, Vaibhavkumar S. Gawali, Helmut Kubista, Hannes Todt, Karlheinz Hilber, Xaver Koenig   +5 more
doaj   +1 more source

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Frontiers in Cell and Developmental Biology, 2021
Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repair ...
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Svetlana Gorokhova, Mathieu Cerino, Mathieu Cerino, Martin Krahn, Martin Krahn, Nicolas Lévy, Nicolas Lévy, Nicolas Lévy, Marc Bartoli   +12 more
doaj   +1 more source

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

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

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

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PLoS ONE, 2011
BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary ...
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa   +8 more
doaj   +1 more source

Membralin Assembles a MAN1B1–VCP Complex to Target Foreign Glycoproteins from the Endoplasmic Reticulum to Lysosomes for Degradation

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study identifies Membralin as an ER‐phagy receptor that recruits MAN1B1 and VCP to form a selective ERLAD complex. By sensing dense N‐glycan clusters on viral fusion glycoproteins, this ubiquitin‐independent pathway directs SARS‐CoV‐2 spike, Ebola GP, influenza HA, and HIV‐1 Env to lysosomal degradation, thereby limiting viral infectivity ...
Jing Zhang, Xiaoran Lu, Sunan Li, Tao Wang, Iqbal Ahmad, Yong‐Hui Zheng   +5 more
wiley   +1 more source