High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
作者信息
Fiore Mathieu, De Thoré Céline, Randrianaivo-Ranjatoelina Hanitra, Baas Marie-Jeanne, Jacquemont Marie-Line, Dreyfus Marie, Lavenu-Bombled Cécile, Li Renhao, Gachet Christian, Dupuis Arnaud, Lanza Francois
机构信息
Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires Constitutionnelles, CHU de Bordeaux, Pessac, France.
Génétique Médicale, Groupe Hospitalier Sud, Saint-Pierre, La Réunion, France.
出版信息
Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30.
Abstract
摘要
相似文献
1
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.在留尼汪岛遗传隔离群体的法国患者中，与伯纳德-索利尔综合征相关的GP1BB基因天然Asn89Asp突变的高患病率。
Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30.
2
A Novel Mutation in Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.一种新的 GPIbβ胞质结构域突变揭示了 Bernard-Soulier 综合征和 GPIb-IX 复合物组装的病理生理学作用。
Int J Mol Sci. 2021 Sep 22;22(19):10190. doi: 10.3390/ijms221910190.
3
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.伯纳德-苏利耶综合征患者及其出血表型严重程度不同。
Blood Cells Mol Dis. 2017 Sep;67:69-74. doi: 10.1016/j.bcmd.2017.01.010. Epub 2017 Jan 22.
4
Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.由新型 GP1BB 变异和 22q11.2 缺失引起的伯纳德-苏利耶综合征。
Int J Hematol. 2024 Jul;120(1):142-145. doi: 10.1007/s12185-024-03768-2. Epub 2024 Apr 16.
5
New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.GP1BB基因中的新杂合变异导致一种遗传性巨血小板减少症。
Br J Haematol. 2019 Mar;184(5):855-858. doi: 10.1111/bjh.15176. Epub 2018 Mar 12.
6
Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.GPIb-IX 复合物的四级结构和 Bernard-Soulier 综合征的结构研究揭示了 GPIbβ 和 GPIbβ/GPIX 嵌合体的结构。
Blood. 2011 Nov 10;118(19):5292-301. doi: 10.1182/blood-2011-05-356253. Epub 2011 Sep 8.
7
A 13 base pair deletion in the GPIbbeta gene in a second unrelated Bernard-Soulier family due to slipped mispairing between direct repeats.在第二个无关的Bernard-Soulier家族中，由于直接重复序列之间的滑动错配，GPIbbeta基因发生了13个碱基对的缺失。
J Thromb Haemost. 2004 Sep;2(9):1663-5. doi: 10.1111/j.1538-7836.2004.00895.x.
8
A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome.一个家族性伯纳德-苏利耶综合征患者存在 GP1BB 基因纯合功能丧失性突变，导致其临床表现具有多变性。
Blood Coagul Fibrinolysis. 2021 Jul 1;32(5):352-355. doi: 10.1097/MBC.0000000000001027.
9
引用本文的文献
1
A Novel Mutation in Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.一种新的 GPIbβ胞质结构域突变揭示了 Bernard-Soulier 综合征和 GPIb-IX 复合物组装的病理生理学作用。
Int J Mol Sci. 2021 Sep 22;22(19):10190. doi: 10.3390/ijms221910190.
2
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.糖蛋白 Ib 血小板亚基β（GP1BB）中的一种撒丁岛始祖突变，可导致血小板减少症。
Br J Haematol. 2020 Dec;191(5):e124-e128. doi: 10.1111/bjh.17090. Epub 2020 Nov 20.
本文引用的文献
1
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.杂合子和双等位基因 Bernard-Soulier 综合征的临床表型——病例对照研究。
Am J Hematol. 2015 Feb;90(2):149-55. doi: 10.1002/ajh.23891. Epub 2014 Nov 24.
2
Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.GPIb-IX 复合物的四级结构和 Bernard-Soulier 综合征的结构研究揭示了 GPIbβ 和 GPIbβ/GPIX 嵌合体的结构。
Blood. 2011 Nov 10;118(19):5292-301. doi: 10.1182/blood-2011-05-356253. Epub 2011 Sep 8.
3
Advances in our understanding of the molecular basis of disorders of platelet function.血小板功能障碍分子基础研究的进展。
J Thromb Haemost. 2011 Jul;9 Suppl 1:76-91. doi: 10.1111/j.1538-7836.2011.04274.x.
4
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.伯纳德-苏利耶综合征的临床和遗传学方面：寻找基因型/表型相关性。
Haematologica. 2011 Mar;96(3):417-23. doi: 10.3324/haematol.2010.032631. Epub 2010 Dec 20.
5
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).伯纳德-索利尔综合征（出血性血小板性营养不良）。
Orphanet J Rare Dis. 2006 Nov 16;1:46. doi: 10.1186/1750-1172-1-46.
6
A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.一种新的错义突变表明，糖基磷脂酰肌醇结合β链（GPIbbeta）在控制血小板糖蛋白Ib-IX粘附受体的加工和稳定性方面具有双重作用。
Biochemistry. 2003 Apr 22;42(15):4452-62. doi: 10.1021/bi026213d.
7
8
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.蛋白水解酶钙蛋白酶3的突变会导致2A型肢带型肌营养不良症。
Cell. 1995 Apr 7;81(1):27-40. doi: 10.1016/0092-8674(95)90368-2.
Zotero 插件