A novel NLRP1 mutation causes different phenotypes in siblings

被引：0
|
作者：
Li, M. [1 ]
Reimer, A. [1 ]
Zimmer, A. [2 ]
Fischer, J. [2 ]
Has, C. [1 ]
机构：
[1] Univ Freiburg, Med Ctr, Dept Dermatol, D-79104 Freiburg, Germany
[2] Univ Freiburg, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany
来源：
EXPERIMENTAL DERMATOLOGY | 2021年 / 30卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
P088
引用
收藏
页码：E45 / E45
页数：1
相关论文
共 50 条
  • [1] A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings
    Li, Mingfeng
    Lay, Kenneth
    Zimmer, Andreas
    Technau-Hafsi, Kristin
    Wong, Jasmine
    Reimer-Taschenbrecker, Antonia
    Rohr, Jan
    Abdalla, Ebtesam
    Fischer, Judith
    Reversade, Bruno
    Has, Cristina
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 2023, 188 (02) : 259 - 267
  • [2] Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis
    Drutman, Scott B.
    Haerynck, Filomeen
    Zhong, Franklin L.
    Hum, David
    Hernandez, Nicholas J.
    Belkaya, Serkan
    Rapaport, Franck
    de Jong, Sarah Jill
    Creytens, David
    Tavernier, Simon J.
    Bonte, Katrien
    De Schepper, Sofie
    ten Bosch, Jutte van der Werff
    Lorenzo-Diaz, Lazaro
    Wullaert, Andy
    Bossuyt, Xavier
    Orth, Gerard
    Bonagura, Vincent R.
    Beziat, Vivien
    Abel, Laurent
    Jouanguy, Emmanuelle
    Reversade, Bruno
    Laurent-Casanova, Jean
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019, 116 (38) : 19055 - 19063
  • [3] The NLRP1 inflammasomes
    Chavarria-Smith, Joseph
    Vance, Russell E.
    [J]. IMMUNOLOGICAL REVIEWS, 2015, 265 (01) : 22 - 34
  • [4] A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita
    Calliari, L. E. P.
    Longui, C. A.
    Rocha, M. N.
    Faria, C. D. C.
    Kochi, C.
    Melo, M. R.
    Melo, M. B.
    Monte, O.
    [J]. GENETICS AND MOLECULAR RESEARCH, 2007, 6 (02) : 277 - 283
  • [5] A novel AIRE gene mutation in two siblings revealing different phenotypes of autoimmune polyendocrine syndrome type 1
    Yildiz, Melek
    Aydin, Banu
    Gezdirici, Alper
    Onal, Hasan
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 250 - 250
  • [6] NLRP1 MUTATIONS CAUSE AUTOINFLAMMATORY DISEASES IN HUMAN: IMPLICATION OF THE NLRP1 INFLAMMASOME?
    Grandemange, Sylvie
    Sanchez, Elodie
    Rittore, Cecile
    El Ahmadi, Yasamine
    Louis-Plence, Pascale
    Reed, John C.
    Apparailly, Florence
    Touitou, Isabelle
    Genevieve, David
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2017, 76 : A74 - A74
  • [7] CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
    Khan, Shaheryar Ahmed
    Nestel, Achim Richard
    [J]. JOURNAL OF OPHTHALMIC & VISION RESEARCH, 2019, 14 (04) : 518 - 524
  • [8] Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L Mutation
    Ishizuka, Takanori
    Nakamura, Masayuki
    Ichiba, Mio
    Fujita, Seigo
    Takeuchi, Kouzo
    Fujimoto, Toshiro
    Sano, Akira
    [J]. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2012, 33 (2-3) : 132 - 140
  • [9] A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis
    Ekinci, Rabia Miray Kisla
    Balci, Sibel
    Bisgin, Atil
    Altintas, Derya Ufuk
    Yilmaz, Mustafa
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (12) : 690 - 694
  • [10] A novel dual NLRP1 and NLRP3 inflammasome inhibitor for the treatment of inflammatory diseases
    Docherty, Callum A. H.
    Fernando, Anuruddika J.
    Rosli, Sarah
    Lam, Maggie
    Dolle, Roland E.
    Navia, Manuel A.
    Farquhar, Ronald
    La France, Danny
    Tate, Michelle D.
    Murphy, Christopher K.
    Rossi, Adriano G.
    Mansell, Ashley
    [J]. CLINICAL & TRANSLATIONAL IMMUNOLOGY, 2023, 12 (06)
12345