Results 71 to 80 of about 3,486 (173)
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 +5 more
wiley +1 more source
Network Analysis-Based Approach for Exploring the Potential Diagnostic Biomarkers of Acute Myocardial Infarction [PDF]
, 2016 Acute myocardial infarction (AMI) is a severe cardiovascular disease that is a serious threat to human life. However, the specific diagnostic biomarkers have not been fully clarified and candidate regulatory targets for AMI have not been identified.
Jiaqi Chen +3 more
core +2 more sources
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 +10 more
wiley +1 more source
, 2023 Abstract Limb-girdle muscular dystrophy (LGMD) is a type of genetically heterogeneous disorders. The goal of current training is discovering novel mutations or deletion in an Iranian family with limb-girdle muscular dystrophy type 2B patient by whole exome sequencing.
Mandana Rastegar +5 more
openaire +1 more source
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
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 +13 more
core +1 more source
The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiae [PDF]
, 2016 Sporulation of Saccharomyces cerevisiae is a developmental process in which an ascus containing four haploid spores forms from a diploid cell. During this process, newly formed membrane structures called prospore membranes extend along the nuclear ...
Gao Xiao-Dong +10 more
core +1 more source
Frontiers in Neurology, 2021 Introduction: Duchenne (DMD) and Becker (BMD) muscular dystrophy are X-linked muscular disorders produced by mutations in the DMD gene which encodes the protein dystrophin.
Alicia Alonso-Jiménez +36 more
doaj +1 more source
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 +31 more
wiley +1 more source
Nature CommunicationsDystrophy-associated fer-1-like protein (dysferlin) conducts plasma membrane repair. Mutations in the DYSF gene cause a panoply of genetic muscular dystrophies.
Helena Escobar +12 more
doaj +1 more source