Results 91 to 100 of about 1,755 (160)

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

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

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Garapati K, Jain A, Joshi N, Sachdeva GS, Nam D, Saraswat M, Pasupuleti RR, Schultz MJ, Kozicz T, Morava E, Pandey A.   +10 more
europepmc   +1 more source

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +1 more source

PMM2 mutation causes PKD and hyperinsulinism [PDF]

Nature Reviews Nephrology, 2017
openaire   +1 more source

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +1 more source

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source

Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report. [PDF]

Cureus
Khan Z, Jafri M, Lambroussis CG.
europepmc   +1 more source

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients. [PDF]

Orphanet J Rare Dis
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X.   +8 more
europepmc   +1 more source