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PubMed:12480927 JSONTXT

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GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 807-814 Glycan_Motif denotes glucose https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G15021LG

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 807-814 https://glytoucan.org/Structures/Glycans/G15021LG denotes glucose

sentences

Id Subject Object Predicate Lexical cue
T1 0-153 Sentence denotes A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.
T2 154-438 Sentence denotes The underlying causes of type I congenital disorders of glycosylation (CDG I) have been shown to be mutations in genes encoding proteins involved in the biosynthesis of the dolichyl-linked oligosaccharide (Glc(3)Man(9)GlcNAc(2)-PP-dolichyl) that is required for protein glycosylation.
T3 439-548 Sentence denotes Here we describe a CDG I patient displaying gastrointestinal problems but no central nervous system deficits.
T4 549-857 Sentence denotes Fibroblasts from this patient accumulate mainly Man(9)GlcNAc(2)-PP-dolichyl, but in the presence of castanospermine, an endoplasmic reticulum glucosidase inhibitor Glc(1)Man(9)GlcNAc(2)-PP-dolichyl predominates, suggesting inefficient addition of the second glucose residue onto lipid-linked oligosaccharide.
T5 858-1104 Sentence denotes Northern blot analysis revealed the cells from the patient to possess only 10-20% normal amounts of mRNA encoding the enzyme, dolichyl-P-glucose:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha3-glucosyltransferase (hALG8p), which catalyzes this reaction.
T6 1105-1228 Sentence denotes Sequencing of hALG8 genomic DNA revealed exon 4 to contain a base deletion in one allele and a base insertion in the other.
T7 1229-1521 Sentence denotes Both mutations give rise to premature stop codons predicted to generate severely truncated proteins, but because the translation inhibitor emetine was shown to stabilize the hALG8 mRNA from the patient to normal levels, it is likely that both transcripts undergo nonsense-mediated mRNA decay.
T8 1522-1727 Sentence denotes As the cells from the patient were successfully complemented with wild type hALG8 cDNA, we conclude that these mutations are the underlying cause of this new CDG I subtype that we propose be called CDG Ih.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 516-538 http://purl.obolibrary.org/obo/MAT_0000457 denotes central nervous system
T2 524-538 http://purl.obolibrary.org/obo/MAT_0000026 denotes nervous system

NGLY1-deficiency

Id Subject Object Predicate Lexical cue
PD-NGLY1-deficiency-B_T1 372-378 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T2 603-609 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T3 725-731 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T4 1015-1021 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T5 179-223 omim:615273 denotes type I congenital disorders of glycosylation

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
12480927-1#212#217#gene4121 366-371 gene4121 denotes Man(9
12480927-1#32#69#diseaseC0282577 186-223 diseaseC0282577 denotes congenital disorders of glycosylation
212#217#gene412132#69#diseaseC0282577 12480927-1#212#217#gene4121 12480927-1#32#69#diseaseC0282577 associated_with Man(9,congenital disorders of glycosylation

DisGeNET

Id Subject Object Predicate Lexical cue
T0 366-371 gene:4121 denotes Man(9
T1 186-223 disease:C0282577 denotes congenital disorders of glycosylation
R1 T0 T1 associated_with Man(9,congenital disorders of glycosylation

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 115-152 Disease denotes congenital disorders of glycosylation http://purl.obolibrary.org/obo/MONDO_0015286
T2 186-223 Disease denotes congenital disorders of glycosylation http://purl.obolibrary.org/obo/MONDO_0015286
T3 225-228 Disease denotes CDG http://purl.obolibrary.org/obo/MONDO_0015286
T4 458-461 Disease denotes CDG http://purl.obolibrary.org/obo/MONDO_0015286
T5 1680-1683 Disease denotes CDG http://purl.obolibrary.org/obo/MONDO_0015286
T6 1720-1726 Disease denotes CDG Ih http://purl.obolibrary.org/obo/MONDO_0011969

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 516-538 Body_part denotes central nervous system http://purl.obolibrary.org/obo/MAT_0000457

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 464-471 OrganismTaxon denotes patient 9606
T2 571-578 OrganismTaxon denotes patient 9606
T3 909-916 OrganismTaxon denotes patient 9606
T4 1423-1430 OrganismTaxon denotes patient 9606
T5 1544-1551 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 516-538 Body_part denotes central nervous system http://purl.obolibrary.org/obo/UBERON_0001017
T2 549-560 Body_part denotes Fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T3 681-690 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 179-185 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 549-560 Cell denotes Fibroblasts http://purl.obolibrary.org/obo/CL:0000057