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- Congenital_disorder_of_glycosylation_type_IIc abstract "Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1.This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation, short stature, a distinctive facial appearance, and the Bombay (hh) blood phenotype, and both were secretor- and Lewis-negative. They both had had recurrent severe bacterial infections similar to those seen in patients with LAD1, including pneumonia, peridontitis, otitis media, and localized cellulitis. Similar to that in patients with LAD1, their infections were accompanied by pronounced leukocytosis (30,000 to 150,000/mm3) but an absence of pus formation at sites of recurrent cellulitis. In vitro studies revealed a pronounced defect in neutrophil motility. Because the genes for the red blood cell H antigen and for the secretor status encode for distinct α1,2-fucosyltransferases and the synthesis of Sialyl-LewisX requires an α1,3-fucosyltransferase, it was postulated that a general defect in fucose metabolism is the basis for this disorder. It was subsequently found that GDP-L-fucose transport into Golgi vesicles was specifically impaired, and then missense mutations in the GDP-fucose transporter cDNA of three patients with LAD2 were discovered. Thus, GDP-fucose transporter deficiency is a cause of LAD2.".
- Congenital_disorder_of_glycosylation_type_IIc omim "266265".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageID "28002757".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageLength "3914".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageOutDegree "24".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageRevisionID "659885658".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Bombay_phenotype.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink CDNA.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Category:Congenital_defects_of_phagocyte_number,_function,_or_both.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Category:Rare_diseases.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Cellulitis.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Complementary_DNA.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Congenital_disorder_of_glycosylation.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink E-selectin.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Endothelium.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Fucose.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Fucosyltransferase.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Golgi_apparatus.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink H_antigen.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Hh_blood_group.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Intellectual_disability.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Leukocyte_adhesion_deficiency.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Leukocyte_adhesion_deficiency-1.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Leukocytosis.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Neutrophil.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Neutrophil_granulocyte.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink P-selectin.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink SLC35C1.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Severe_mental_retardation.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Sialyl-LewisX.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLink Sialyl-Lewis_X.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageWikiLinkText "Congenital disorder of glycosylation type IIc".
- Congenital_disorder_of_glycosylation_type_IIc hasPhotoCollection Congenital_disorder_of_glycosylation_type_IIc.
- Congenital_disorder_of_glycosylation_type_IIc name "Congenital disorder of glycosylation type IIc".
- Congenital_disorder_of_glycosylation_type_IIc omim "266265".
- Congenital_disorder_of_glycosylation_type_IIc wikiPageUsesTemplate Template:Congenital-malformation-stub.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageUsesTemplate Template:Infobox_disease.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageUsesTemplate Template:Membrane_transport_protein_disorders.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageUsesTemplate Template:Monocyte_and_granulocyte_disease.
- Congenital_disorder_of_glycosylation_type_IIc wikiPageUsesTemplate Template:Reflist.
- Congenital_disorder_of_glycosylation_type_IIc subject Category:Autosomal_recessive_disorders.
- Congenital_disorder_of_glycosylation_type_IIc subject Category:Congenital_defects_of_phagocyte_number,_function,_or_both.
- Congenital_disorder_of_glycosylation_type_IIc subject Category:Rare_diseases.
- Congenital_disorder_of_glycosylation_type_IIc hypernym Deficiency.
- Congenital_disorder_of_glycosylation_type_IIc type Disease.
- Congenital_disorder_of_glycosylation_type_IIc type Defect.
- Congenital_disorder_of_glycosylation_type_IIc type Disorder.
- Congenital_disorder_of_glycosylation_type_IIc type Thing.
- Congenital_disorder_of_glycosylation_type_IIc type Q12136.
- Congenital_disorder_of_glycosylation_type_IIc comment "Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1.This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents.".
- Congenital_disorder_of_glycosylation_type_IIc label "Congenital disorder of glycosylation type IIc".
- Congenital_disorder_of_glycosylation_type_IIc sameAs m.0ch3z83.
- Congenital_disorder_of_glycosylation_type_IIc sameAs Q5160418.
- Congenital_disorder_of_glycosylation_type_IIc sameAs Q5160418.
- Congenital_disorder_of_glycosylation_type_IIc wasDerivedFrom Congenital_disorder_of_glycosylation_type_IIc?oldid=659885658.
- Congenital_disorder_of_glycosylation_type_IIc isPrimaryTopicOf Congenital_disorder_of_glycosylation_type_IIc.
- Congenital_disorder_of_glycosylation_type_IIc name "Congenital disorder of glycosylation type IIc".