Results 171 to 180 of about 308,307 (292)

First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation. [PDF]

Neurogenetics
Pham A, Harmon J, Thibodaux LK, Flashman LA, Curtin M.   +4 more
europepmc   +1 more source

Differential regulation of ZFAS1 splice variants by endoplasmic reticulum stress in hepatocyte cell lines

FEBS Open Bio, EarlyView.
ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand, Paulina Lau, Ruth McPherson   +2 more
wiley   +1 more source

A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report. [PDF]

Medicine (Baltimore)
Wen R, Tian J.
europepmc   +1 more source

Inherited Disorders [PDF]

Clinical Chemistry and Laboratory Medicine (CCLM), 2014
openaire   +1 more source

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

Weeping Wound, Disgruntled Gut and Fading Hunger: Acrodermatitis Enteropathica in an Infant. [PDF]

Cureus
Sushantika S, Sethi J.
europepmc   +1 more source

Alcohol‐induced altered glycans in human tracheal epithelial cells promote bacterial adhesion

FEBS Open Bio, EarlyView.
Alcohol induces altered glycans to promote bacteria adhesion. Heavy alcohol drinking is known to increase the risk of bacterial pneumonia. However, the link between alcohol levels and risk of infection remains underexplored. Recently, we found that alcohol induced α2‐6sialo mucin O‐glycans in human tracheobronchial epithelial cells, which mediated the ...
Pi‐Wan Cheng, Souvik Datta, Derrick R. Samuelson   +2 more
wiley   +1 more source

Neurodevelopmental Phenotype Associated with <i>TRIP12</i>: Report of a Family Carrying the p.Asp1135Val Variant. [PDF]

Genes (Basel)
Margiotti K, Fabiani M, Cima A, Monaco F, Viola A, Mesoraca A, Giorlandino C.   +6 more
europepmc   +1 more source

Dihydroorotate dehydrogenase (DHODH) regulates trophoblast syncytialization through organelle stress–induced cellular senescence

FEBS Open Bio, EarlyView.
The inhibition of mitochondrial dihydroorotate dehydrogenase (DHODH) impairs syncytialization and induces cellular senescence via mitochondrial and endoplasmic reticulum stress in human trophoblast stem cells, elevating sFlt1/PlGF levels, a hallmark of placental dysfunction in hypertensive disorders of pregnancy.
Kanoko Yoshida, Kazuya Kusama, Ayaka Horiuchi, Yu Kawaguchi, Atsuya Tsuru, Mikihiro Yoshie, Kazuhiro Tamura   +6 more
wiley   +1 more source

A Systematic Review and Meta-Analysis on the Effectiveness and Safety of Tranexamic Acid for Postpartum Haemorrhage in Patients with Haemorrhagic Disorders. [PDF]

Diseases
Adepoju VA, Abdulrahim A, Olaniyi BO, Adnani QES, Biswas S.   +4 more
europepmc   +1 more source