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Article

Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome

1 May 1995

Abstract excerpt

The Wiskott-Aldrich syndrome (WAS) is an X-linked (Xp11.22) recessive immunodeficiency syndrome characterized by susceptibility to opportunistic and pyogenic infections, thrombocytopenia, and eczema. Previous studies of obligate carriers of WAS documented that nonrandom inactivation of the X chromosome carrying the defective gene is observed in all peripheral blood cells. The existence of both abnormal platelets...

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Identifiers

PMID: 7537115
DOI: 10.1182/blood.v85.9.2471.bloodjournal8592471

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Related research

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Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndromePMID 7537115Read ↗

Wiskott-Aldrich syndrome in a female.Semantic proximity Read ↗

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia.Semantic proximity Read ↗

Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome.Semantic proximity Read ↗

X chromosome inactivation patterns in leucocyte populations of female carriers of Wiskott-Aldrich syndrome with an atypical presentation.Semantic proximity Read ↗

Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.Semantic proximity Read ↗

Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6.Semantic proximity Read ↗

X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation.Semantic proximity Read ↗

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.Semantic proximity Read ↗

Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Semantic proximity Read ↗

Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.Semantic proximity Read ↗

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.Semantic proximity Read ↗

Hematopoietic precursor cells transiently reestablish permissiveness for X inactivation.Semantic proximity Read ↗

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