Results 61 to 70 of about 2,287 (160)

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Upcycling Agricultural By‐Products: RNA‐Seq‐Based Elucidation of Body Weight‐Independent Hepatoprotective Mechanisms of Cucumis melo var. makuwa Leaf Extract in Diet‐Induced Obese Mice

eFood, Volume 7, Issue 3, June 2026.
Upcycling agricultural by‐products into functional resources, this study demonstrates that Cucumis melo var. makuwa leaf (CML) extract exerts a marked weight‐independent improvement of hepatic steatosis. CML extract markedly alleviates lipid accumulation, oxidative stress, and inflammation in MASLD, highlighting its potent hepatoprotective and ...
Ji Young Hwang, Ji Yun Van, Hyeon Hak Jeong, Yerin Seong, Seokmin Lee, Jaeseong Seo, Bo‐Mi Ryu, Seungjun Lee, Suhyeon Baek, Sanggil Lee, Won‐Kyo Jung, Jae‐Il Kim, Bonggi Lee   +12 more
wiley   +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

RXR Gamma Enables Oligodendrocyte Differentiation by Suppressing Sonic Hedgehog Signaling

Glia, Volume 74, Issue 6, June 2026.
Using pharmacogenetic approaches, Baldassarro et al. demonstrate that RXRγ suppresses the SHH signaling pathway in OPCs to ensure their efficient differentiation following T3 stimulation. Accordingly, Rxrg−/− OPCs displayed compromised differentiation which was normalized by the pharmacological inhibition of the hyperactive SHH pathway.
Vito Antonio Baldassarro, Quentin Brassart, Valérie Fraulob, Laura Calzà, Wojciech Krezel   +4 more
wiley   +1 more source

Genetic characterization and improved genotyping of the dysferlin-deficient mouse strain Dysf tm1Kcam

, 2015
BACKGROUND: Mouse models of dysferlinopathies are valuable tools with which to investigate the pathomechanisms underlying these diseases and to test novel therapeutic strategies.
Kobuke, Kazuhiro, Sinnreich, Michael, Wiktorowicz, Tatiana, Jochen Kinter, Michael Sinnreich, Kinter, Jochen, Kazuhiro Kobuke, Campbell, Kevin P., Tatiana Wiktorowicz, Kevin P. Campbell   +9 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients [PDF]

, 2008
International audienceDysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and
Pellissier, Jean, Elisabeth Ollagnon-Roman, Françoise Chapon, Bevilacqua, Jorge, Attarian, Shahram, Jorge A. Bevilacqua, Jon Andoni Urtizberea, Shahram Attarian, Nguyen, Karine, Figarella-Branger, Dominique, Ollagnon-Roman, Elisabeth, Karine Nguyen, El Hadi Hammouda, Pellissier, Jean-François, France Leturcq, Nicolas Lévy, Jean-François Pellissier, Bruno Eymard, Eymard, Bruno, Dominique Figarella-Branger, Jean Pouget, Krahn, Martin, Guillaume Bassez, Isabelle Richard, Bernard, Rafaëlle, Salvo, Eric, Richard, Isabelle, Béroud, Christophe, Christophe Béroud, Rafaëlle Bernard, Urtizberea, Jon Andoni, Labelle, Véronique, Bassez, Guillaume, Bevilacqua, Jorge A, Chapon, Françoise, Hammouda, El Hadi, Julien Bouvenot, Fernández, Carla, Laforêt, Pascal, Carla Fernandez, Pascal Laforêt, Pouget, Jean, Véronique Labelle, Lévy, Nicolas, Bouvenot, Julien, Leturcq, France, Martin Krahn, Eric Salvo   +47 more
core   +1 more source

Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis

Annals of Neurology, Volume 99, Issue 4, Page 1083-1089, April 2026.
The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten, Ana M. Marques, Elisabeth J. Vinke, C. Louk de Mol, Rinze F. Neuteboom, M. Kamran Ikram, Mohsen Ghanbari, Frank J. Wolters, Beatrijs Wokke, Meike W. Vernooij, Joost Smolders   +10 more
wiley   +1 more source

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

, 2021
International audiencePURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics.
Nathalie Bonello-Palot, Christophe Pécheux, Cerino, Mathieu, Charnay, Théo, Mathieu Cerino, Nguyen, Karine, Svetlana Gorokhova, Pécheux, Christophe, Théo Charnay, Bartoli, Marc, Karine Nguyen, Gorokhova, Svetlana, Nicolas Lévy, Riccardi, Florence, Blanck, Véronique, Véronique Blanck, Marc Bartoli, Florence Riccardi, Bonello-Palot, Nathalie, Lévy, Nicolas, Martin Krahn, Krahn, Martin   +21 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