Results 41 to 50 of about 2,516,635 (116)
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
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 +31 more
wiley +1 more source
Assessment of physiological parameters in the application of a double adeno-associated virus 9 with a codon-optimized DYSF gene for limb girdle muscular dystrophy type R2 [PDF]
Introduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Andrey А. Manuylov +8 more
core +1 more source
Genomics Insights Into High‐Latitude Adaptation of Tibetan Macaques
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 +12 more
wiley +1 more source
Aims 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 ...
Schaefer, A.M. +13 more
core
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 +9 more
wiley +1 more source
Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients [PDF]
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 +47 more
core +1 more source
Null variants in DYSF result in earlier symptom onset
We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype-phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The
최영철 +5 more
core +1 more source
Gene Therapy for Allergic Diseases
Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫 +1 more
core +1 more source
A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene. [PDF]
Cao X +6 more
europepmc +1 more source

