Documents (356,316) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9694901	A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease. The GM2 gangliosidoses are cause	2 KB	2015-11-27	42	3	-
PubMed	18816083	Proteome analysis of multidrug resistance of human oral squamous carcinoma cells using CD147 silencing. There is a correlation between the multidrug-resistance (MDR) of cancer cells and their enhanced	1.46 KB	2019-08-21	42	9	-
PubMed	16018252	Two novel mutations in SRY gene form Chinese sex reversal XY females. The SRY gene (sex determining region on Y chromosome) acts as TDF and is required for regulating male sex determination. SRY repre	2.02 KB	2015-11-19	42	3	-
PubMed	16181814	Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. Alpers syndrome is an autosomal recessive mitochondrial DNA depletion di	1.73 KB	2015-11-19	42	6	-
PubMed	22128166	Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. G(M1) gangliosidosis and Morquio B are autosomal recessive lysosomal storage diseases associa	1.02 KB	2015-11-26	42	3	-
PubMed	17652097	Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies. Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, hav	1.85 KB	2015-11-23	42	6	-
PubMed	21565289	A proteomic approach to investigate the differential antigenic profile of two Coxiella burnetii strains. Q fever is a widespread zoonosis caused by Coxiella burnetii, an obligate intracellular Gram-ne	1.66 KB	2019-08-21	42	12	-
PubMed	11279193	Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. Galactosemia is an inherited disorder characterized by an inabili	1.42 KB	2015-11-17	41	3	-
PubMed	18274891	Transcriptional regulation of the fucosyltransferase VI gene in hepatocellular carcinoma cells. The alpha1,3-fucosyltransferase VI (FUT VI) protein is a key enzyme for synthesis of sialyl Lewis X and	1.42 KB	2019-05-30	41	6	-
PubMed	19269971	Structure and regulation of the versican promoter: the versican promoter is regulated by AP-1 and TCF transcription factors in invasive human melanoma cells. Versican is a large chondroitin sulfate pr	1.82 KB	2015-11-25	41	12	-