A gain-of-function variant in DIAPH1 is associated with heritable macrothrombocytopenia and sensorineural deafness

被引:0
|
作者
Westbury, S. K. [1 ]
机构
[1] Univ Bristol, Sch Clin Sci, Bristol BS8 1TH, Avon, England
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
72
引用
收藏
页码:37 / 37
页数:1
相关论文
共 50 条
  • [41] Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy
    Bisabu, Ken Kelu
    Zhao, Juan
    Mokrane, Alla-Eddine
    Segura, Emilie
    Marsolais, Mireille
    Grondin, Steffany
    Naas, Evelyne
    Gagnon, Johannie
    Cadrin-Tourigny, Julia
    Aguilar, Martin
    Mongeon, Francois-Pierre
    Talajic, Mario
    Parent, Lucie
    Tadros, Rafik
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (06): : 707 - 709
  • [42] Evolution of the Gain-of-Function MUC5B Promoter Variant
    Schwartz, David A.
    Blumhagen, Rachel Z.
    Fingerlin, Tasha E.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2022, 206 (10) : 1189 - 1191
  • [43] Association of a Gain-of-Function Variant in LGR4 with Central Obesity
    Zou, Yaoyu
    Ning, Tinglu
    Shi, Juan
    Chen, Maopei
    Ding, Lin
    Huang, Ya
    Kauderer, Sophie
    Xu, Min
    Cui, Bin
    Bi, Yufang
    Liu, Simin
    Hong, Jie
    Liu, Ruixin
    Ning, Guang
    Wang, Jiqiu
    OBESITY, 2017, 25 (01) : 252 - 260
  • [44] A biallelic gain-of-function variant in MSGN1 causes a new skeletal dysplasia syndrome
    Koparir, Asuman
    Lekszas, Caroline
    Keseroglu, Kemal
    Rad, Aboulfazl
    Hasanzadeh, Atefeh
    Karimiani, Ehsan Ghayoor
    Narendran, Nakul
    Ozbudak, Ertugrul
    Vona, Barbara
    Haaf, Thomas
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 390 - 390
  • [45] ApoC3-Gln38Lys Variant is a Gain-of-function Mutation Associated With Human Hypertriglyceridemia
    Yao, Zemin
    Sundaram, Meenakshi
    Curtis, Kaitlin R.
    Alipour, Mohsen A.
    Parks, Robin J.
    McIntyre, Adam D.
    Hegele, Robert A.
    CIRCULATION, 2016, 134
  • [46] ApoC3-Gln38Lys Variant is a Gain-of-function Mutation Associated With Human Hypertriglyceridemia
    Yao, Zemin
    Sundaram, Meenakshi
    Curtis, Kaitlin R.
    Alipour, Mohsen A.
    Parks, Robin J.
    McIntyre, Adam D.
    Hegele, Robert A.
    CIRCULATION, 2016, 134
  • [47] A novel germline gain-of-function variant in PIK3CD
    Rae, William
    Gao, Yifang
    Ward, Daniel
    Mattocks, Christopher J.
    Eren, Efrem
    Williams, Anthony P.
    CLINICAL IMMUNOLOGY, 2017, 181 : 29 - 31
  • [48] A myoferlin gain-of-function variant associates with a new type of hereditary angioedema
    Ariano, Anastasia
    D'Apolito, Maria
    Bova, Maria
    Bellanti, Francesco
    Loffredo, Stefania
    D'Andrea, Giovanna
    Intrieri, Mariano
    Petraroli, Angelica
    Maffione, Angela Bruna
    Spadaro, Giuseppe
    Santacroce, Rosa
    Margaglione, Maurizio
    ALLERGY, 2020, 75 (11) : 2989 - 2992
  • [49] ANTIBODY NEGATIVE HYPOTHYROIDISM ASSOCIATED WITH GAIN-OF-FUNCTION STAT1 MUTATION
    Kadakia, Sejal
    Leonard, Stephanie
    Hagood, James
    Newfield, Ron S.
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 578 - 579
  • [50] Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency
    Benavides-Nieto, Marta
    Adam, Frederic
    Martin, Emmanuel
    Boussard, Charlotte
    Lagresle-Peyrou, Chantal
    Callebaut, Isabelle
    Kauskot, Alexandre
    Reperant, Christelle
    Feng, Miao
    Bordet, Jean-Claude
    Castelle, Martin
    Morelle, Guillaume
    Brouzes, Chantal
    Zarhrate, Mohammed
    Panikulam, Patricia
    Lambert, Nathalie
    Picard, Capucine
    Bodet, Damien
    Rouger-Gaudichon, Jeremie
    Revy, Patrick
    de Villartay, Jean-Pierre
    Moshous, Despina
    JOURNAL OF CLINICAL INVESTIGATION, 2024, 134 (17):