Sudden cardiac death caused by bi-allelic variants in the PPA2 gene

被引:0
|
作者
Edwards, M. [1 ]
Wilkinson, S. [1 ]
van den Broek, F. [2 ]
Brett, L. [1 ]
Till, J. [3 ]
Mayr, J. A. [2 ]
Homfray, T. [1 ]
Morris-Rosendahl, D. [1 ]
机构
[1] Royal Brompton & Harefield NHS Trust, Clin Genet & Genom Lab, London, England
[2] Paracelsus Med Univ Salzburg, Dept Pediat, Salzburg, Austria
[3] Royal Brompton & Harefield NHS Fdn Trust, Paediat Cardiol, London, England
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P05.65A
引用
收藏
页码:161 / 161
页数:1
相关论文
共 50 条
  • [41] Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
    van Dijk, Fleur S.
    Semler, Oliver
    Etich, Julia
    Koehler, Anna
    Jimenez-Estrada, Juan A.
    Bravenboer, Nathalie
    Claeys, Lauria
    Riesebos, Elise
    Gegic, Sejla
    Piersma, Sander R.
    Jimenez, Connie R.
    Waisfisz, Quinten
    Flores, Carmen-Lisset
    Nevado, Julian
    Harsevoort, Arjan J.
    Janus, Guus J. M.
    Franken, Anton A. M.
    van der Sar, Astrid M.
    Meijers-Heijboer, Hanne
    Heath, Karen E.
    Lapunzina, Pablo
    Nikkels, Peter G. J.
    Santen, Gijs W. E.
    Nuechel, Julian
    Plomann, Markus
    Wagener, Raimund
    Rehberg, Mirko
    Hoyer-Kuhn, Heike
    Eekhoff, Elisabeth M. W.
    Pals, Gerard
    Morgelin, Matthias
    Newstead, Simon
    Wilson, Brian T.
    Ruiz-Perez, Victor L.
    Maugeri, Alessandra
    Netzer, Christian
    Zaucke, Frank
    Micha, Dimitra
    AMERICAN JOURNAL OF HUMAN GENETICS, 2020, 107 (05) : 989 - 999
  • [42] Pathogenic bi-allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency
    Qi, Yu
    Wang, Yiyang
    Li, Weilin
    Zhuang, Shuning
    Li, Shan
    Xu, Keyan
    Yingying, Qin
    Guo, Ting
    CLINICAL GENETICS, 2023, 104 (04) : 486 - 490
  • [43] Pediatric duodenal cancer and bi-allelic mismatch repair gene mutations
    Roy, S.
    Raskin, L.
    Raymond, V. M.
    Mody, R.
    Gruber, S. B.
    PEDIATRIC RESEARCH, 2008, 64 (04) : 445 - 445
  • [44] Bi-allelic mismatch repair gene defects: a cause for pediatric malignancies
    Poley, JW
    Wagner, A
    Hoogmans, M
    Kros, MJ
    Reddingius, RE
    Meijers-Heyboer, HE
    Kuipers, EJ
    Dinjens, WN
    GASTROENTEROLOGY, 2005, 128 (04) : A437 - A437
  • [45] A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants
    Baumann, M.
    Steichen-Gersdorf, E.
    Krabichler, B.
    Mueller, T.
    Janecke, A. R.
    CLINICAL GENETICS, 2017, 92 (01) : 86 - 90
  • [46] Novel bi-allelic CAD variants cause epileptic encephalopathy responsive to triacetyluridine supplementation
    Anderson, Katherine
    Wiltrout, Kimberly
    Giummo, Christine
    Wortmann, Saskia B.
    Freeze, Hudson
    del Cano Ochoa, Francisco
    Ramon, Santiago
    MOLECULAR GENETICS AND METABOLISM, 2024, 141 (04)
  • [47] Bi-allelic FRA10AC1 variants in a multisystem human syndrome
    Banka, Siddharth
    Shalev, Stavit
    Park, Soo Mi
    Wood, Katherine A.
    Thomas, Huw B.
    Wright, Helen L.
    Alyahya, Mohammed
    Bankier, Sean
    Alimi, Ola
    Chervinsky, Elena
    Zeef, Leo A. H.
    O'Keefe, Raymond T.
    BRAIN, 2022, 145 (10) : E86 - E89
  • [48] Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
    Fatima, Ambrin
    Hoeber, Jan
    Schuster, Jens
    Koshimizu, Eriko
    Maya-Gonzalez, Carolina
    Keren, Boris
    Mignot, Cyril
    Akram, Talia
    Ali, Zafar
    Miyatake, Satoko
    Tanigawa, Junpei
    Koike, Takayoshi
    Kato, Mitsuhiro
    Murakami, Yoshiko
    Abdullah, Uzma
    Ali, Muhammad Akhtar
    Fadoul, Rein
    Laan, Loora
    Castillejo-Lopez, Casimiro
    Liik, Maarika
    Jin, Zhe
    Birnir, Bryndis
    Matsumoto, Naomichi
    Baig, Shahid M.
    Klar, Joakim
    Dahl, Niklas
    AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (04) : 739 - 748
  • [49] Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction
    Matera, Ivana
    Bordo, Domenico
    Di Duca, Marco
    Lerone, Margherita
    Santamaria, Giuseppe
    Pongiglione, Marta
    Lezo, Antonella
    Diamanti, Antonella
    Spagnuolo, Maria Immacolata
    Prato, Alessio Pini
    Alberti, Daniele
    Mattioli, Girolamo
    Gandullia, Paolo
    Ceccherini, Isabella
    CLINICAL GENETICS, 2021, 99 (03) : 430 - 436
  • [50] Bi-allelic variants in genes related to piRNA biogenesis are a major cause for male infertility
    Stallmeyer, Birgit
    Buehlmann, Clara
    Dicke, Ann-Kristin
    Rotte, Nadja
    Wyrwoll, Margot Julia
    Kliesch, Sabine
    Neuhaus, Nina
    Tuettelmann, Frank
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 68 - 68