Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng +4 more
wiley +1 more source
Intron turnover of slc26a1 and slc26a2 and convergence of intron insertion sites. [PDF]
Torii K +5 more
europepmc +1 more source
Uncovering the role of genetic polymorphisms in cervical insufficiency
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi +3 more
wiley +1 more source
Characterization of the mitochondrial genomes for <i>Ophiostomaips</i> and related taxa from various geographic origins and related species: large intron-rich genomes and complex intron arrangements. [PDF]
Mukhopadhyay J +3 more
europepmc +1 more source
PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley +1 more source
The knock-in atlas: a web resource for targeted protein trap by CRISPR/Cas9 in human and mouse cell lines. [PDF]
Hanai Y +10 more
europepmc +1 more source
Abstract BACKGROUND The WX gene encodes the granule‐bound starch synthase I or waxy protein, which is the sole enzyme responsible for amylose synthesis in wheat seeds. Wild einkorn wheat (Triticum monococcum L. ssp. aegilopoides Link em. Thell.) could be an important source of variation for this gene. RESULTS This study assessed the WX gene variability
Juan B. Alvarez +2 more
wiley +1 more source
The Relevance of G-Quadruplexes in Gene Promoters and the First Introns Associated with Transcriptional Regulation in Breast Cancer. [PDF]
Shu H +5 more
europepmc +1 more source
Impact of E‐Beam Sterilization on Bioglass Composite Shape Memory Scaffolds
Electron beam (E‐beam) sterilization is an attractive alternative to conventional methods (e.g., ethylene oxide) to sterilize medical devices such as scaffolds used to heal bone defects. Herein, the impact of E‐beam sterilization on the properties of “self‐fitting” shape memory polymer (SMP) scaffolds prepared from resorbable polyesters and a bioglass ...
Brandon M. Nitschke +2 more
wiley +1 more source

