Citations for
1AGTR1, 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
2GP1BA
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
3GP1BA, 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
4GP1BA, 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
5GP1BA
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
6GP1BA, 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
7ADAMTS13, 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
8GP1BA, 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
9GP1BA
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
10GP1BA
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
11GP1BA
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
12GP1BA, 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
13GP1BA
New alleles of the platelet glycoprotein Ibalpha gene.
Corral J, et al.
Br J Haematol 103(4):997-1003. 1998
14GP1BA
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
15GP1BA
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
16GP1BA
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
17GP1BA
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
18GP1BA, GP1BB
Molecular defects in the Bernard-Soulier syndrome : assessment of receptor genes, transcripts and proteins. Dˇfauts molˇculaires dans le syndrome de Bernard-Soulier, g¸nes des rˇcepteurs, protˇines et transcrits.
Roth GJ.
C R Acad Sci III 319 : 819-826. 1996
19GP1BA
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
20GP1BA
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
21GP1BA
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
22GP1BA
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
23GP1BA
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
24GP1BA, 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
25GP1BA
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
26GP1BA
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
27GP1BA
TaqI and Bsu361 polymorphisms in the human glycoprotein Ib-alpha gene (GPIBalpha).
Petersen EJ, et al.
Hum Mol Genet 1 : 451. 1992
28GP1BA
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
29FED, 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
30GP1BA
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
31GP1BA
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
32GP1BA
Variant Bernard-Soulier syndrome type Bolzano.
De Marco L, et al.
J Clin Invest 86 : 25-31. 1990
33GP1BA
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
34GP1BA
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