Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy. [PDF]
Mao B+8 more
europepmc +1 more source
Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I [PDF]
Kazuhiko Takahara+7 more
openalex +1 more source
This study investigates subgenome evolution and polyploidy in Cypriniformes fish, revealing complex phylogenetic relationships and genomic dynamics. By applying advanced subgenome partitioning methods, it uncovers novel insights into transposon activity and gene fractionation.
Yunyun Lv+14 more
wiley +1 more source
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review. [PDF]
Fu X+6 more
europepmc +1 more source
Allelic characterization and protein structure analysis reveals the involvement of splice site mutation for growth habit differences in Lablab purpureus (L.) Sweet. [PDF]
Kaldate S+6 more
europepmc +1 more source
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing [PDF]
Marília Cravo
openalex +1 more source
Ubiquitin‐mediated selective autophagy plays a critical role in antiviral innate immunity. The study shows that upon RNA virus infection, cytoplasmic API5 undergoes SRPK1‐dependent phosphorylation at S464, which in turn suppresses p62 K141 ubiquitination‐dependent autophagy.
Tingjuan Deng+10 more
wiley +1 more source
Aim: To investigate the characteristics of 4 Chinese patients with Bartter syndrome type 3 (BS Type 3). Methods: The clinical data, genetic analysis, and outcome of four cases with Bartter syndrome type 3 were retrospectively summarised.
Yurong Piao+6 more
doaj
Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. [PDF]
Okutman Ö+7 more
europepmc +1 more source
YTHDC1 Is Essential for Postnatal Liver Development and Homeostasis
This study identifies YTHDC1 as a key regulator of postnatal liver development and disease. Hepatocyte‐specific deletion of Ythdc1 impairs hepatocyte maturation, causing liver injury, contributing to nonalcoholic steatohepatitis and hepatocellular carcinoma.
Xinzhi Li+8 more
wiley +1 more source