| 1 | AGTR1, CETP, EPAS1, GP1BA, IHH, TBX5
|
| Genetic contributions to the development of retinopathy of prematurity.
|
| Mohamed S, Schaa K, Cooper ME, Ahrens E, Alvarado A, Colaizy T, Marazita ML, Murray JC, Dagle JM.
|
| Pediatr Res 65(2):193-7.
2009
|
| 2 | GP1BA
|
| Genetics of platelet reactivity in normal, healthy individuals.
|
| Kunicki TJ, Williams SA, Salomon DR, Harrison P, Crisler P, Nakagawa P, Mondala TS, Head SR, Nugent DJ.
|
| J Thromb Haemost 7(12):2116-22. Epub 2009 Sep 9.PMID: 19740098 2009
|
| 3 | GP1BA, PVWD
|
| Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype?
|
| Othman M, Favaloro EJ.
|
| Semin Thromb Hemost 34(6):520-31. Epub 2008 Nov 28. Review.PMID: 1908565 2008
|
| 4 | GP1BA, GP1BB, GP1BC, GP9
|
| Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
|
| Afrasiabi A, Lecchi A, Artoni A, Karimi M, Ashouri E, Peyvandi F, Mannucci PM.
|
| Platelets 18(6):409-13.
2007
|
| 5 | GP1BA
|
| Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura.
|
| Kunishima S, Imai T, Hamaguchi M, Saito H.
|
| Eur J Haematol 76(4):348-55. 2006
|
| 6 | GP1BA, FLNA
|
| Identification of a unique filamin A binding region within the cytoplasmic domain of glycoprotein Ibalpha.
|
| Cranmer SL, Pikovski I, Mangin P, Thompson PE, Domagala T, Frazzetto M, Salem HH, Jackson SP.
|
| Biochem J 387(Pt 3):849-58. 2005
|
| 7 | ADAMTS13, GP1BA, VWF
|
| Binding of platelet glycoprotein Ibalpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13.
|
| Nishio K, Anderson PJ, Zheng XL, Sadler JE.
|
| Proc Natl Acad Sci U S A 101(29):10578-83. Epub 2004 Jul 12. 2004
|
| 8 | GP1BA, GP1BB
|
| Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.
|
| Tang J, Stern-Nezer S, Liu PC, Matyakhina L, Riordan M, Luban NL, Steinbach PJ, Kaler SG.
|
| Thromb Haemost 92(1):75-88.PMID: 15213848 2004
|
| 9 | GP1BA
|
| Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome.
|
| Ware J, Russell S, Ruggeri ZM.
|
| Proc Natl Acad Sci U S A 97(6):2803-8. 2000
|
| 10 | GP1BA
|
| Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.
|
| Koskela S, et al.
|
| Eur J Haematol 62(3):160-8. 1999
|
| 11 | GP1BA
|
| Type 2M von Willebrand disease : F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.
|
| Hillery CA, et al.
|
| Blood 91 : 1572-1581. 1998
|
| 12 | GP1BA, GP1BB, GP1BC, GP5, GP9
|
| A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
|
| Noris P, et al.
|
| Br J Haematol 103(4):1004-13. 1998
|
| 13 | GP1BA
|
| New alleles of the platelet glycoprotein Ibalpha gene.
|
| Corral J, et al.
|
| Br J Haematol 103(4):997-1003. 1998
|
| 14 | GP1BA
|
| Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain.
|
| Holmberg L, Karpman D, Nilsson I, Olofsson T.
|
| Br J Haematol 98(1):57-63. 1997
|
| 15 | GP1BA
|
| De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.
|
| Kunishima S, Heaton DC, Naoe T, Hickton C, Mizuno S, Saito H, Kamiya T.
|
| Blood Coagul fibrinolysis 8(5):311-5. 1997
|
| 16 | GP1BA
|
| A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome.
|
| Kenny D, Newman PJ, Morateck PA, Montgomery RR.
|
| Blood 90(7):2626-33. 1997
|
| 17 | GP1BA
|
| Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain.
|
| Afshar-Kharghan V, Lopez JA.
|
| Blood 90(7):2634-43. 1997
|
| 18 | GP1BA, GP1BB
|
| Molecular defects in the Bernard-Soulier syndrome : assessment of receptor genes, transcripts and proteins. DŽfauts molŽculaires dans le syndrome de Bernard-Soulier, gnes des rŽcepteurs, protŽines et transcrits.
|
| Roth GJ.
|
| C R Acad Sci III 319 : 819-826. 1996
|
| 19 | GP1BA
|
| The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ibalpha.
|
| Li C, et al.
|
| Blood 86 : 3805-3814. 1995
|
| 20 | GP1BA
|
| A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ibalpha associated with a variant of Bernard-Soulier syndrome (Nancy I).
|
| De la Salle C, et al.
|
| Br J Haematol 89 : 386-396. 1995
|
| 21 | GP1BA
|
| Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein lbalpha causing Bernard-Soulier syndrome.
|
| Simsek S, et al.
|
| Thromb Haemost 72 : 444-449. 1994
|
| 22 | GP1BA
|
| Cys209 Ser mutation in the platelet membrane glycoprotein Ibalpha gene is associated with Bernard-Soulier syndrome.
|
| Simsek S, et al.
|
| Br J Haematol 88 : 839-844. 1994
|
| 23 | GP1BA
|
| Pseudo-von Willebrand disease : a mutation in the platelet glycoprotein Ibalpha gene associated with a hyperactive surface receptor.
|
| Russell SD, et al.
|
| Blood 81 : 1787-1791. 1993
|
| 24 | GP1BA, GP9, GP1BC
|
| Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.
|
| Wright SD, et al.
|
| Blood 81 : 2339-2347. 1993
|
| 25 | GP1BA
|
| Point mutation in a leucine-rich repeat of platelet glycoprotein lb alpha resulting in the Bernard-Soulier syndrome.
|
| Ware J, et al.
|
| J Clin Invest 92 : 1213-1220. 1993
|
| 26 | GP1BA
|
| Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib-alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
|
| Miller JL, et al.
|
| Blood 79 : 439-446. 1992
|
| 27 | GP1BA
|
| TaqI and Bsu361 polymorphisms in the human glycoprotein Ib-alpha gene (GPIBalpha).
|
| Petersen EJ, et al.
|
| Hum Mol Genet 1 : 451. 1992
|
| 28 | GP1BA
|
| Polymorphism of human glycoprotein Ibalpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region.
|
| Lopez JA, et al.
|
| J Biol Chem 267 : 10055-10061. 1992
|
| 29 | FED, GP1BA, LCAT, PVWD
|
| Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
|
| Miller JL, Cunningham D, Lyle VA, Finch CN.
|
| Proc Natl Acad Sci U S A 88(11):4761-5. 1991
|
| 30 | GP1BA
|
| The 5' flanking region and chromosomal localization of the gene encoding human platelet membrane glycoprotein Ib-alpha.
|
| Wenger RH, et al.
|
| Gene 85 : 517-524. 1990
|
| 31 | GP1BA
|
| Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.
|
| Ware J, et al.
|
| Proc Natl Acad Sci U S A 87 : 2026-2030. 1990
|
| 32 | GP1BA
|
| Variant Bernard-Soulier syndrome type Bolzano.
|
| De Marco L, et al.
|
| J Clin Invest 86 : 25-31. 1990
|
| 33 | GP1BA
|
| Evidence that an abnormality in the glycoprotein Ib alpha gene is not the cause of abnormal platelet function in a family with classic Bernard-Soulier disease.
|
| Finch CN, et al.
|
| Blood 75 : 2357-2362. 1990
|
| 34 | GP1BA
|
| Bernard-Soulier syndrome : a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein.
|
| Caen JP, et al.
|
| J Lab Clin Med 87 : 587-596. 1976
|