Results 231 to 240 of about 250,365 (285)

Double-stranded DNA viruses may serve as vectors for horizontal transfer of intron-generating transposons [PDF]

Landen Gozashti, Russell Corbett‐Detig
openalex   +1 more source

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
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, Xiao Han, Congquan Wu, Qiaowen Lu, Shujun Gao   +4 more
wiley   +1 more source

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype. [PDF]

Invest Ophthalmol Vis Sci
Reis LM, Bellingham J, Motta FL, Jurkute N, Raskin S, Ramos F, Mahroo OA, Moosajee M, Arno G, Semina EV.   +9 more
europepmc   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

International Journal of Gynecology &Obstetrics, EarlyView.
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, Michail Kalinderis, Maria Chatzidimitriou, Liana Fidani   +3 more
wiley   +1 more source

Dynamic assembly of a large multidomain ribozyme visualized by cryo-electron microscopy. [PDF]

Nat Commun
Jadhav S, Maiorca M, Manigrasso J, Saha S, Rakitch A, Muscat S, Mulvaney T, De Vivo M, Topf M, Marcia M.   +9 more
europepmc   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
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

Molecular Characterization of a Complex <i>PDGFRB</i> Structural Variation in Infantile Myofibroma With Complete Response to Imatinib. [PDF]

JCO Precis Oncol
Bastianelli WE, Wu J, Ahsan MU, Szepessy AM, Schubert J, Balamuth NJ, Chan J, Denenberg EH, Luo M, Pollock AN, Russo PA, Rybacki K, Xu F, Zhong Y, Surrey LF, Wang K, Laetsch TW, Li MM.   +17 more
europepmc   +1 more source

Polimorfismo Pvull no intron 15 do gene do receptor de lipoproteína de baixa densidade (LDLR) em pacientes infectados pelo vírus da imunodeficiência humana tipo 1 (HIV-1)

Elaine Regina Delicato de Almeida
openalex   +1 more source

Characterization of the polymorphism detected for the granule‐bound starch synthase (WX gene) in wild einkorn wheat

Journal of the Science of Food and Agriculture, EarlyView.
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, Laura Castellano, Carlos Guzmán   +2 more
wiley   +1 more source

Pre-mRNA splicing and its regulation in microalgae and cyanobacteria. [PDF]

Adv Biotechnol (Singap)
Do S, Liu Y, Huynh H, Liu Y, Li W, Chen MX, Du ZY.   +6 more
europepmc   +1 more source