Wiskott-Aldrich-Syndrom-Gen
Das WAS-Gen kodiert ein Protein, welches für die Signaltransduktion zum Zytoskelett verantwortlich ist. Mutationen führen zu x-chromosomalem Wiskott-Aldrich-Syndrom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Scott MP et al. (2002) Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1.
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2. |
Zhu Q et al. (1995) The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
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3. |
Kolluri R et al. (1995) Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
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4. |
Derry JM et al. (1995) WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
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5. |
Kwan SP et al. (1995) Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
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6. |
Stewart DM et al. (1996) Studies of the expression of the Wiskott-Aldrich syndrome protein.
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7. |
Hirschhorn R et al. (1996) Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.
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8. |
de Saint Basile G et al. (1996) Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.
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9. |
Ariga T et al. (1998) A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes.
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10. |
Snapper SB et al. (1998) Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation.
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11. |
Snapper SB et al. (1999) The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization.
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12. |
Kim AS et al. (2000) Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.
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13. |
Marchand JB et al. (2001) Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex.
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14. |
Ho LL et al. (2001) Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
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15. |
Fillat C et al. (2001) Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
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16. |
Notarangelo LD et al. (2002) Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
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17. |
Wengler G et al. (1995) Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.
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18. |
Lutskiy MI et al. (2002) An Alu-mediated deletion at Xp11.23 leading to Wiskott-Aldrich syndrome.
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19. |
Orange JS et al. (2002) Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses.
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20. |
Inoue H et al. (2002) X-linked thrombocytopenia in a girl.
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21. |
Volkman BF et al. (2002) Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome.
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22. |
Imai K et al. (2004) Clinical course of patients with WASP gene mutations.
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23. |
Andreu N et al. (2003) Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.
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24. |
Ancliff PJ et al. (2006) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
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25. |
Humblet-Baron S et al. (2007) Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis.
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26. |
Marangoni F et al. (2007) WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells.
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27. |
Maillard MH et al. (2007) The Wiskott-Aldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells.
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28. |
Cotta-de-Almeida V et al. (2007) Wiskott Aldrich syndrome protein (WASP) and N-WASP are critical for T cell development.
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29. |
Cheng HC et al. (2008) Structural mechanism of WASP activation by the enterohaemorrhagic E. coli effector EspF(U).
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30. |
Beel K et al. (2009) A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
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31. |
Westerberg LS et al. (2010) Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.
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32. |
Cryan EF et al. (1988) Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred.
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33. |
Lyon MF et al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.
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34. |
Kwan SP et al. (1995) Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
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35. |
Villa A et al. (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
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36. |
Derry JM et al. (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.
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37. |
Symons M et al. (1996) Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.
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38. |
Kolluri R et al. (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.
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39. |
Derry JM et al. (1995) The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.
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40. |
Schindelhauer D et al. (1996) Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
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41. |
Greer WL et al. (1996) Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.
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42. |
Parolini O et al. (1998) X-linked Wiskott-Aldrich syndrome in a girl.
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43. |
Puck JM et al. (1998) X inactivation in females with X-linked disease.
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44. |
Waisfisz Q et al. (1999) Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
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45. |
Lemahieu V et al. (1999) Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
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46. |
Thompson LJ et al. () Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
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47. |
Wada T et al. (2001) Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.
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48. |
Wengler GS et al. (1995) High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.
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49. |
Kwan SP et al. (1988) Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.
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50. |
Greer WL et al. (1989) Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.
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51. |
Greer WL et al. (1990) Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.
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52. |
Boztug K et al. (2008) Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.
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53. |
Dobbs AK et al. (2007) A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.
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54. |
Binder V et al. (2006) The genotype of the original Wiskott phenotype.
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55. |
Du W et al. (2006) A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.
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56. |
Wada T et al. (2004) Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.
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57. |
ALDRICH RA et al. (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.
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58. |
Wada T et al. (2003) Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.
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59. |
Sasahara Y et al. (2002) Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation.
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60. |
Lutskiy MI et al. (2002) Wiskott-Aldrich syndrome in a female.
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61. |
Devriendt K et al. (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
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62. |
NCBI article
NCBI 7454
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63. |
OMIM.ORG article
Omim 300392
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64. |
Orphanet article
Orphanet ID 120490
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65. |
Wikipedia Artikel
Wikipedia DE (Wiskott-Aldrich-Syndrom-Protein)
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Update: 14. August 2020