CD151 antigen(Raph blood group)
The CD151 gene encodes a transmembranous cell surface protein. Mutations are responsible for autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness, a disorder that resembles Alport-Syndrome.
Genetests:
Related Diseases:
References:
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Kagan A et al. (1988) Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease.
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2. |
Hasegawa H et al. (1997) Assignment of SFA-1 (PETA-3), a member of the transmembrane 4 superfamily, to human chromosome 11p15.5 by fluorescence in situ hybridization.
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3. |
Hasegawa H et al. (1996) SFA-1, a novel cellular gene induced by human T-cell leukemia virus type 1, is a member of the transmembrane 4 superfamily.
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4. |
Fitter S et al. (1995) Molecular cloning of cDNA encoding a novel platelet-endothelial cell tetra-span antigen, PETA-3.
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5. |
Daniels GL et al. (1987) MER2: a red cell polymorphism defined by monoclonal antibodies.
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6. |
Bill J et al. (1987) Molecular cloning of MER-2, a human chromosome-11-encoded red blood cell antigen, using linkage of cotransfected markers.
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7. |
Ashman LK et al. (1991) The murine monoclonal antibody, 14A2.H1, identifies a novel platelet surface antigen.
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8. |
Karamatic Crew V et al. (2008) Two MER2-negative individuals with the same novel CD151 mutation and evidence for clinical significance of anti-MER2.
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9. |
Lau LM et al. (2004) The tetraspanin superfamily member CD151 regulates outside-in integrin alphaIIbbeta3 signaling and platelet function.
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10. |
Wright MD et al. (2004) Characterization of mice lacking the tetraspanin superfamily member CD151.
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11. |
Whittock NV et al. (2001) Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.
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12. |
Sterk LM et al. (2000) The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes.
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13. |
Karamatic Crew V et al. (2004) CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
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14. |
NCBI article
NCBI 977
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15. |
OMIM.ORG article
Omim 602243
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16. |
Orphanet article
Orphanet ID 304247
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17. |
Wikipedia article
Wikipedia EN (CD151)
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Update: Aug. 14, 2020