About: X-linked chronic granulomatous disease

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A chronic granulomatous disease characterized by X-linked inheritance that has material basis in mutation in the CYBB gene on chromosome Xp21.1-p11.4.

Attributes	Values
rdf:type	Item
description	A chronic granulomatous disease characterized by X-linked inheritance that has material basis in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (en)
exact match	wds:Q60195030-8C1A44C9-B1C9-4A7C-98D3-9BF76A12502F
exact match	http://purl.obolibrary.org/obo/DOID_0070195
Mondo ID	wds:Q60195030-46912C54-7C94-46A5-993C-400B463BED4E
Disease Ontology ID	wds:Q60195030-348259CB-057E-4D17-AA7E-5C79F5CCC1A3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010600
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0070195
Mondo ID	MONDO_0010600
Disease Ontology ID	DOID:0070195
rdfs:label	X-linked chronic granulomatous disease (en)
skos:prefLabel	X-linked chronic granulomatous disease (en)
name	X-linked chronic granulomatous disease (en)
instance of	wds:Q60195030-7E0B9E66-C9B6-4208-890E-890F8F0A40E2
instance of	class of disease
subclass of	wds:Q60195030-36053A6C-F9FB-4B17-91A4-5BF9E2E57499 wds:Q60195030-38FDBEE7-ED0F-422B-B441-1CE78A1AE8F1
subclass of	chronic granulomatous disease X-linked recessive disease
UniProt disease ID	wds:Q60195030-e1c886c4-42ca-b07a-7412-0eacdeaabdcc
OMIM ID	wds:Q60195030-C3F9EBEC-7FBA-480B-AA38-B9ECE51FE208
UniProt disease ID	DI-00307
OMIM ID	306400
skos:altLabel	X-linked chronic cytochrome b-negative granulomatous disease (en) CDGX (en)
NCI Thesaurus ID	wds:Q60195030-3bb7e24b-422e-fb18-568c-b4f3e0153539
on focus list of Wikimedia project	wds:Q60195030-EE15898D-743F-4A29-AB84-04A53E8A0270
NCI Thesaurus ID	C154315
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q60195030
is main subject of	Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558. Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease Absence of both cytochrome b−245 subunits from neutrophils in X-linked chronic granulomatous disease Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene. Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245 Variable correction of host defense following gene transfer and bone marrow transplantation in murine X-linked chronic granulomatous disease Retroviral-mediated gene transfer of gp91phox into bone marrow cells rescues defect in host defense against Aspergillus fumigatus in murine X-linked chronic granulomatous disease Disseminated nocardiosis in a patient with X-linked chronic granulomatous disease and human immunodeficiency virus infection X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production Absence of respiratory burst in X-linked chronic granulomatous disease mice leads to abnormalities in both host defense and inflammatory response to Aspergillus fumigatus Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease Discoid lupus erythematosus and X-linked chronic granulomatous disease Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease Hematologically important mutations: X-linked chronic granulomatous disease Hematologically important mutations: X-linked chronic granulomatous disease (second update). Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease Phellinus species: An emerging cause of refractory fungal infections in patients with X-linked chronic granulomatous disease Genetic correction of X-linked chronic granulomatous disease with novel foamy virus vectors Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease NADPH oxidase deficiency in X-linked chronic granulomatous disease Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. Transient association of the nicotinamide adenine dinucleotide phosphate oxidase subunits p47phox and p67phox with phagosomes in neutrophils from patients with X-linked chronic granulomatous disease Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils Simian immunodeficiency virus lentivector corrects human X-linked chronic granulomatous disease in the NOD/SCID mouse xenograft Long-term high-level reconstitution of NADPH oxidase activity in murine X-linked chronic granulomatous disease using a bicistronic vector expressing gp91phox and a Delta LNGFR cell surface marker Third-generation, self-inactivating gp91(phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous disease Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Long-term correction of phagocyte NADPH oxidase activity by retroviral-mediated gene transfer in murine X-linked chronic granulomatous disease. Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system Retroviral gene therapy for X-linked chronic granulomatous disease: results from phase I/II trial A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b Family clusters of variant X-linked chronic granulomatous disease. Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier determination Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections Discoid lupus erythematosus-like lesions and stomatitis in female carriers of X-linked chronic granulomatous disease Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers Retroviral-mediated gene transfer and nonmyeloablative conditioning: studies in a murine X-linked chronic granulomatous disease model Reconstitution of NADPH oxidase activity in human X-linked chronic granulomatous disease myeloid cells after stable gene transfer using a recombinant adeno-associated virus 2 vector High-level reconstitution of respiratory burst activity in a human X-linked chronic granulomatous disease (X-CGD) cell line and correction of murine X-CGD bone marrow cells by retroviral-mediated gene transfer of human gp91phox Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox Adenovirus-mediated gene transfer into monocyte-derived macrophages of patients with X-linked chronic granulomatous disease: ex vivo correction of deficient respiratory burst Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease Retrovirus-mediated reconstitution of respiratory burst activity in X-linked chronic granulomatous disease cells Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant Preimplantation genetic diagnosis for HLA typing in a case of X-linked chronic granulomatous disease. Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells. Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs. A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b CYBB mutation analysis in X-linked chronic granulomatous disease Hematologically important mutations: X-linked chronic granulomatous disease (third update) Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation Cloning of murine gp91phox cDNA and functional expression in a human X-linked chronic granulomatous disease cell line Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome

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