Results 91 to 100 of about 2,287 (160)

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy

, 2012
Dysferlinopathy refers to autosomal recessive muscular dystrophies caused by mutations in dysferlin gene (DYSF). It includes two major distinct disorders, Miyoshi myopathy and limb-girdle muscular dystrophy type 2B.
최영철
core   +1 more source

Single‐Cell Insights Into Macrophage Subtypes in Pulmonary Infections

Advanced Science, Volume 13, Issue 3, 14 January 2026.
This review highlights the dynamic plasticity of macrophages during pulmonary infections and proposes an integrative framework defining six functional subtypes: Inflam‐Ms, Hub‐Ms, Reg‐Ms, Prolif‐Ms, Memory‐Ms, and Senesc‐Ms. Single‐cell omics delineate their distinct roles in homeostasis and infection, refining our understanding of macrophage ...
Zhaoheng Lin, Yuxiao Zheng, Yu Zhong, Hongyan Wang   +3 more
wiley   +1 more source

O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy

, 2022
Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi-allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weakness ...
Ravenscroft, G., Hayhurst, H., Laing, N., Folland, C., Gomez, A.B., Trajanoski, D., Johnsen, R., Davis, M., Schaefer, A., Guglieri, M., Barresi, R., Lamont, P., Moore, U., Straub, V.   +13 more
core  

RNA-basierte Therapien für Dysferlinopathien [PDF]

, 2015
Precursor-mRNA (pre-mRNA) cis-splicing is an attractive target for the repair of genes whose transcription regulation is determinative for protein function, as it is the case for the dysferlin (DYSF) gene.
Philippi, Susanne
core   +1 more source

Comparison of ovarian mRNA expression levels in wild and hatchery-produced greater amberjack Seriola dumerili

Scientific Reports
The greater amberjack Seriola dumerili is a promising candidate for aquaculture production. This study compares the ovary transcriptome of greater amberjack sampled in the wild (WILD) with hatchery-produced breeders reared in aquaculture sea cages in the
Anna Lavecchia, Caterina De Virgilio, Luigi Mansi, Caterina Manzari, Constantinos C. Mylonas, Ernesto Picardi, Chrysovalentinos Pousis, Sharon N. Cox, Gianluca Ventriglia, Rosa Zupa, Graziano Pesole, Aldo Corriero   +11 more
doaj   +1 more source

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

BMC Medical Genetics, 2018
Background We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of ...
Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien   +3 more
doaj   +1 more source

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies

Scientific Reports
Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain.
Petra Hnilicova, Marian Grendar, Monika Turcanova Koprusakova, Alzbeta Trancikova Kralova, Jana Harsanyiova, Martin Krssak, Ivica Just, Nadezda Misovicova, Martina Hikkelova, Jan Grossmann, Peter Spalek, Iveta Meciarova, Egon Kurca, Norbert Zilka, Kamil Zelenak, Wolfgang Bogner, Martin Kolisek   +16 more
doaj   +1 more source

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Egyptian Journal of Medical Human Genetics
Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya, Alejandro Martínez-Herrera, Oscar Mancera-Páez, Alberto Hidalgo-Bravo, María R. Rivera-Vega   +4 more
doaj   +1 more source

Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy [PDF]

, 2009
Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction.
최영철
core  

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

, 2018
Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot spots, analysis of the DYSF gene is time-consuming and laborious using ...
박형준
core   +2 more sources