Results 111 to 120 of about 2,410 (179)

Stress-induced secretory pathway disruption causes atypical metalloproteinase transport in PMM2-CDG. [PDF]

iScience
Wu CL, Wiggins K, Dukes-Rimsky L, Garapati K, Pandey A, Steet R, Flanagan-Steet H.   +6 more
europepmc   +1 more source

Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy. [PDF]

Front Neurol
Fan L, Shen Y, Wang J, Gan J.
europepmc   +1 more source

Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study. [PDF]

Mol Genet Metab Rep
Neves CJ, Gomes A, Lourenço RA, Barbosa M, Grosso AR, Videira PA.   +5 more
europepmc   +1 more source

PMM2 mutation causes PKD and hyperinsulinism [PDF]

Nature Reviews Nephrology, 2017
openaire   +1 more source

4th World Conference on CDG for Families and Professionals-Genetic modifiers for PMM2-CDG

, 2019
Genetic modifiers for PMM2 ...
G Andreotti
core  

A risk stratification framework based on ammonia-induced cell death signatures for prognostic assessment and therapeutic insights in colorectal cancer. [PDF]

Discov Oncol
Sun S, Zhao Y, Liu Z, Ran X.
europepmc   +1 more source

PMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression. [PDF]

Oncogene
Peng Z, Ma B, Song Z, Zhao Y, Yang Y, Liu Y, Li C, Zhang Y.   +7 more
europepmc   +1 more source

Glycosylation in premature ovarian insufficiency: from genetic etiology to precision diagnostics. [PDF]

J Ovarian Res
Feng C, Qi N, Feng R, Liu Y, Yuan X.
europepmc   +1 more source

Vaccination of children with inborn errors of metabolism: safety, immunogenicity, and practical implications. [PDF]

Eur J Pediatr
Lipiński P, Jaczewska M, Jackowska T.
europepmc   +1 more source

A novel inherently hydrophobic and physicomechanically robust coconut oil-based polyurethane-modified mortar. [PDF]

Sci Rep
Paraguya JJJB, Dingcong RG, Bacosa HP, Dumancas GG, Alguno AC, Ramos MSK, Malaluan RM, Lubguban AA.   +7 more
europepmc   +1 more source