A novel splicing variant of KDM6A in a family with Kabuki Syndrome 2

被引：0
|
作者：
Geckinli, Bilgen Bilge [1 ]
Ersoy, Aysenur [1 ]
Hanoglu, Onur [1 ]
Yuce, Vedat [1 ]
Soylemez, Mehmet Ali [1 ]
Arman, Ahmet [1 ]
机构：
[1] Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：
EP10.007
引用
收藏
页码：1043 / 1043
页数：1
相关论文
共 50 条
  • [41] A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype
    Swartz, Jonathan M.
    Akinci, Aysehan
    Andrew, Shayne F.
    Sigirci, Ahmet
    Hirschhorn, Joel N.
    Rosenfeld, Ron G.
    Dauber, Andrew
    Hwa, Vivian
    HORMONE RESEARCH IN PAEDIATRICS, 2014, 82 (05): : 344 - 352
  • [42] A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition
    Gao, Christine W.
    Lin, Wanting
    Riddle, Ryan C.
    Kushwaha, Priyanka
    Boukas, Leandros
    Bjornsson, Hans T.
    Hansen, Kasper D.
    Fahrner, Jill A.
    JCI INSIGHT, 2024, 9 (01)
  • [43] A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK
    Miyake, N.
    Inaba, M.
    Mizuno, S.
    Shiina, M.
    Imagawa, E.
    Miyatake, S.
    Nakashima, M.
    Mizuguchi, T.
    Takata, A.
    Ogata, K.
    Matsumoto, N.
    CLINICAL GENETICS, 2017, 92 (05) : 554 - 555
  • [44] Opposing effects of KDM6A and JDP2 on glucocorticoid sensitivity in T-ALL
    Levinson, Anya L.
    Tjoa, Karensa
    Huang, Benjamin
    Meyer, Lauren K.
    Kim, Mi-Ok
    Brady, Samuel W.
    Zhang, Jinghui
    Shannon, Kevin
    Wandler, Anica M.
    BLOOD ADVANCES, 2023, 7 (14) : 3479 - 3484
  • [45] The H3k27 Methyltransfearse Ezh2 And Demethylases Kdm6a And Kdm6b Contribute To Lung Development
    Cao, Y.
    Lakshminarayanan, M.
    Huang, J.
    Gao, Q.
    Kotton, D. N.
    Ramirez, M. I.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2013, 187
  • [46] Opposing Effects of KDM6A and JDP2 on Glucocorticoid Sensitivity in T-ALL
    Levinson, Anya
    Tjoa, Karensa
    Huang, Benjamin J.
    Meyer, Lauren K.
    Brady, Samuel W.
    Zhang, Jinghui
    Shannon, Kevin M.
    Wandler, Anica
    BLOOD, 2022, 140 : 5973 - 5974
  • [47] Papillary Tumor of the Pineal Region With Novel KDM6A and RLP5 Gene Mutations: A Case Report
    Dai, Min
    Guthikonda, Bharat
    Espejo, Octavio Arevalo
    Takei, Hidehiro
    Cuevas-Ocampo, Areli
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2022, 81 (06): : 490 - 491
  • [48] Molecular and Clinical data of two patients with Kabuki syndrome: reporting a novel pathogenic variant
    Amllal, Nada
    Zerkaoui, Maria
    Jdioui, Wafaa
    Sefiani, Abdelaziz
    Elalaoui, Siham Chafai
    Jaber, Lyahyai
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1057 - 1057
  • [49] KDM6 Demethylases Integrate DNA Repair Gene Regulation: Loss of KDM6A Sensitizes AML to PARP Inhibition and Potentiates with BCL2 Blockade
    Boila, Liberalis Debraj
    Jin, Liqing
    Murison, Alex
    Bandyopadhyay, Subham K.
    Ghosh, Subhadeep
    Muddineni, Siva Sai Naga Anurag
    Zeng, Andy G. X.
    Sinha, Sayantani
    Chatterjee, Shankha Subhra
    Biswas, Mayukh
    Mbong, Nathan
    Gan, Olga I.
    Arruda, Andrea
    Shaikh, Wasim
    Bose, Anwesha
    Bhowmik, Satyaki
    Chakraborty, Sayan
    Kennedy, James A.
    Mitchell, Amanda
    Lechman, Eric R.
    Banerjee, Debasis
    Milyavsky, Michael
    Minden, Mark D.
    Dick, John E.
    Sengupta, Amitava
    BLOOD, 2021, 138
  • [50] Mosaic mutation in KDM6B gene in patient with Kabuki syndrome: analysis of genotype-phenotype correlation
    Ciara, E.
    Wesol-Kucharska, D.
    Wicher, D.
    Piekutowska-Abramczuk, D.
    Kosinska, J.
    Stawinski, P.
    Pelc, M.
    Rydzanicz, M.
    Gajewska-Jaholowska, J.
    Rokicki, D.
    Chalupczynska, B.
    Siestrzykowska, D.
    Halat-Wolska, P.
    Kowalski, P.
    Madej-Pilarczyk, A.
    Jurkiewicz, D.
    Chrzanowska, K.
    Ploski, R.
    Krajewska-Walasek, M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 362 - 362
12345