Results 61 to 70 of about 4,375 (200)

Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]

, 2019
Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan, Bremner, Shannon, Clark, Madison, Desmond, Patrick, Estève, Eric, Ghassemian, Majid, Lange, Stephan, Marrocco, Valeria, Myers, Stephanie, Nguyen, Jim, Pierantozzi, Enrico, Sorrentino, Vincenzo, Ward, Samuel, Wright, Matthew   +13 more
core   +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

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

If titan prisons are back on the agenda, we must know more about the one we already have [PDF]

, 2013
Last week the government announced plans to conduct feasibility work on what would be Britain’s largest prison, citing a need for new capacity and a concern to close older and more expensive facilities. The government is pointing to HMP Oakwood, the 1600
Allen, Rob
core  

The Abduction of Disorder in Psychiatry [PDF]

, 1999
The evolutionary cornerstone of J. C. Wakefield's (1999) harmful dysfunction thesis is a faulty assumption of comparability between mental and biological processes that overlooks the unique plasticity and openness of the brain?s functioning design.
Hinshaw, Stephen P., Richters, John E.
core   +1 more source

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing

Medicine, 2020
Abstract Rationale: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes.
Sook Joung Lee, Eunseok Choi, Soyoung Shin, Joonhong Park   +3 more
openaire   +2 more sources

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

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. [PDF]

, 2015
Dominant mutations in TPM3, encoding α-tropomyosin(slow), cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients.
Beggs, AH, Clarke, NF, Cooper, ST, de Winter, JM, Ilkovski, B, Klinge, L, Marston, SB, McNamara, E, Mokbel, N, North, KN, Nowak, KJ, Ottenheijm, CA, Ravenscroft, G, Rendu, J, Yuen, M   +14 more
core   +1 more source