Documents (356,316) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	16037488	Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Untreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] def	920 Bytes	2019-05-30	50	12	-
PubMed	18490429	POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo. O-Mannosylation represents an evolutionarily conser	1.74 KB	2019-05-30	50	15	-
PubMed	16079417	Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Patients with Type I congenital disorders of glycosylation (CDG-I) make incom	1.92 KB	2019-05-30	50	3	-
PubMed	17374617	Glycoengineering of alphaGal xenoantigen on recombinant peptide bearing the J28 pancreatic oncofetal glycotope. In human pancreatic adenocarcinoma, alterations of glycosylation processes leads to the	2.01 KB	2018-03-09	50	6	-
PubMed	20801540	Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation. BACKGROUND & AIMS: Aceruloplasminemia is a rare autosomal recessive neurodegenerative	1.84 KB	2015-11-25	50	3	-
PubMed	18046082	Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with lipoprotein glomerulopathy. BACKGROUND/AIMS: Lipoprotein glomerulopathy (LPG) is a rare disease chara	1.6 KB	2015-11-23	50	12	-
PubMed	15958417	Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gen	1.83 KB	2019-05-30	50	6	-
PubMed	22798143	Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the tri	1.71 KB	2019-08-21	49	6	-
PubMed	8755918	Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less sever	1.31 KB	2015-11-27	49	9	-
PubMed	17345627	Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: a new syndrome. Bone morphogenetic proteins (BMPs) are a highly conserved class of signaling	1.4 KB	2017-09-11	49	9	-