Severe neurodevelopmental disease caused by a homozygous TLK2 variant

被引：0
|
作者：
Topf, A. [1 ]
Oktay, Y. [2 ]
Balaraju, S. [1 ]
Yilmaz, E. [2 ]
Sonmezler, E. [2 ]
Yis, U. [3 ]
Laurie, S. [4 ]
Thompson, R. [1 ]
Roos, A. [1 ,5 ]
MacArthur, D. G. [6 ,7 ]
Yaramis, A. [8 ]
Gungor, S. [9 ]
Lochmueller, H. [4 ,10 ,11 ,12 ]
Hiz, S. [3 ]
Horvath, R. [13 ]
机构：
[1] Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle, England
[2] Dokuz Eylul Univ, Izmir Biomed & Genome Ctr, Hlth Campus, Izmir, Turkey
[3] Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey
[4] Barcelona Inst Sci & Technol, Ctr Genom Regulat, CRG, CNAG, Barcelona, Spain
[5] Leibniz Inst Analyt Wissensch, ISAS, Dortmund, Germany
[6] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[7] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
[8] Diyarbakir Mem Hosp, Pediat Neurol Clin, Diyarbakir, Turkey
[9] Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkey
[10] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada
[11] Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada
[12] Univ Freiburg, Med Ctr, Fac Med, Dept Neuropediat & Muscle Disorders, Freiburg, Germany
[13] Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
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：
E-P08.19
引用
收藏
页码：1850 / 1851
页数：2
相关论文
共 50 条
  • [21] A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
    Sumathipala, Dulika S.
    Misceo, Doriana
    Larsen, Selma Mujezinovic
    Baroy, Tuva
    Gamage, Thilini H.
    Frengen, Eirik
    Stromme, Petter
    CLINICAL DYSMORPHOLOGY, 2020, 29 (02) : 107 - 110
  • [22] A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
    Krami, Al Mehdi
    Bouzidi, Aymane
    Charif, Majida
    Amalou, Ghita
    Charoute, Hicham
    Rouba, Hassan
    Roky, Rachida
    Lenaers, Guy
    Barakat, Abdelhamid
    Nahili, Halima
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2022, 65 (06)
  • [23] TLK2 enhances aggressive phenotypes of glioblastoma cells through the activation of SRC signaling pathway
    Lin, Muhui
    Yao, Zhicheng
    Zhao, Na
    Zhang, Chaodong
    CANCER BIOLOGY & THERAPY, 2019, 20 (01) : 101 - 108
  • [24] Exploring the role of TLK2 mutation in tropical calcific pancreatitis: an in silico and molecular dynamics simulation study
    Shrivastava, Ashish
    Magani, Sri Krishna Jayadev
    Lokhande, Kiran Bharat
    Chintakhindi, Madhusudan
    Singh, Ashutosh
    JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS, 2024,
  • [25] The circadian E3 ligase complex SCFFBXL3+CRY targets TLK2
    Correia, Stephanie Papp
    Chan, Alanna B.
    Vaughan, Megan
    Zolboot, Norjin
    Perea, Valerie
    Huber, Anne-Laure
    Kriebs, Anna
    Moresco, James J.
    Yates, John R., III
    Lamia, Katja A.
    SCIENTIFIC REPORTS, 2019, 9 (1)
  • [26] The circadian E3 ligase complex SCFFBXL3+CRY targets TLK2
    Stephanie Papp Correia
    Alanna B. Chan
    Megan Vaughan
    Norjin Zolboot
    Valerie Perea
    Anne-Laure Huber
    Anna Kriebs
    James J. Moresco
    John R. Yates
    Katja A. Lamia
    Scientific Reports, 9
  • [27] Discovery and optimization of narrow spectrum inhibitors of Tousled like kinase 2 (TLK2) using quantitative structure activity relationships
    Asquith, Christopher R. M.
    East, Michael P.
    Laitinen, Tuomo
    Alamillo-Ferrer, Carla
    Hartikainen, Erkka
    Wells, Carrow I.
    Axtman, Alison D.
    Drewry, David H.
    Tizzard, Graham J.
    Poso, Antti
    Willson, Timothy M.
    Johnson, Gary L.
    EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY, 2024, 271
  • [28] Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
    Song, Uisook
    Ryu, Young Hye
    Hong, Kiteak
    Shim, So-Yeon
    Park, Seongyeol
    Lee, Jeong Seok
    Ju, Young Seok
    Shin, Seung Han
    Lee, Soyoung
    BMC PEDIATRICS, 2021, 21 (01)
  • [29] Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report
    Uisook Song
    Young Hye Ryu
    Kiteak Hong
    So-Yeon Shim
    Seongyeol Park
    Jeong Seok Lee
    Young Seok Ju
    Seung Han Shin
    Soyoung Lee
    BMC Pediatrics, 21
  • [30] Homozygous DMRT2 variant associates with severe rib malformations in a newborn
    Bouman, Arjan
    Waisfisz, Quinten
    Admiraal, Jop
    van de Loo, Moniek
    van Rijn, Rick R.
    Dimitra, Micha
    Oostra, Roelof-Jan
    Mathijssen, Inge B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (05) : 1216 - 1221
12345