Systematic evaluation of EHMT1 protein altering variants uncovers unexpected insights on EHMT1 functions and Kleefstra syndrome pathogenesis

被引：0

作者：

Rots, Dmitrijs ^{[1
]}

Yamada, Ayumi ^{[2
]}

Foroutan, Aidin ^{[3
,4
]}

McCon-Key, Haley ^{[4
]}

Kerkhof, Jennifer ^{[4
]}

Alders, Marielle ^{[5
]}

Maystadt, Isabelle ^{[6
]}

Holden, Simon ^{[7
]}

Balasubramanian, Meena ^{[8
,9
]}

Merla, Giuseppe ^{[10
]}

San-Ten, Gijs ^{[11
]}

Belonis, Alyce ^{[12
]}

Bouman, Arianne ^{[1
]}

Kummeling, Joost ^{[1
]}

Heijligers, Malou ^{[13
]}

Van Haelst, Mieke ^{[14
]}

Parker, Michael ^{[8
]}

Park, Soo-Mi ^{[7
]}

Metcalfe, Kay ^{[15
]}

Genevieve, David ^{[16
,17
]}

Chatron, Nicolas ^{[18
,19
]}

Putoux, Audrey ^{[20
,21
]}

Pasquier, Laurent ^{[22
]}

Dubourg, Christele ^{[23
,24
]}

Strobl-Wildemann, Gertrud

Plomp, Astrid ^{[5
]}

Vreeburg, Maaike ^{[13
]}

Baralle, Diana ^{[25
,26
]}

Foulds, Nicola ^{[25
,26
]}

Scurr, Ingrid ^{[27
]}

Cappuccio, Gerarda ^{[28
]}

Brunetti-Pierri, Nicola

Van Hagen, Annet ^{[14
]}

Bijlsma, Emilia K.

Firth, Helen ^{[7
]}

Forzano, Francesca ^{[29
]}

Kalsner, Louisa ^{[30
,31
,32
]}

Hol, Janna A. ^{[33
]}

Courage, Carolina ^{[34
]}

Vanhoutte, Els ^{[13
]}

Banka, Siddharth ^{[15
]}

Venselaar, Hanka ^{[35
]}

Kasri, N. Nadif ^{[1
]}

van Bokhoven, Hans ^{[1
]}

Brunner, Han ^{[1
]}

Vissers, Lisenka ^{[1
]}

Shinkai, Yoichi ^{[2
]}

Sadikovic, Bekim ^{[4
]}

Kleefstra, Tjitske ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[2] RIKEN CPR, Cellular Memory Lab, Wako, Saitama, Japan

[3] Western Univ, Dept Pathol & Lab Med, London, ON, Canada

[4] London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON, Canada

[5] Univ Amsterdam, Med Ctr, Dept Human Genet, Amsterdam, Netherlands

[6] Ctr Human Genet, Inst Pathol & Genet, Charleroi, Belgium

[7] Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England

[8] Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[9] Univ Sheffield, Acad Unit Child Hlth, Sheffield, S Yorkshire, England

[10] Univ Naples Federico II, Dept Mol Med & Med Biotechnol, Naples, Italy

[11] Leiden Univ Med Ctr LUMC, Leiden, Netherlands

[12] Cincinnati Childrens Hosp, Div Human Genet, Med Ctr, Cincinnati, OH USA

[13] Maastricht Univ, Med Ctr, Maastricht, Netherlands

[14] Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Amsterdam, Netherlands

[15] Manchester Ctr Genom Med, Manchester, Lancs, England

[16] Montpellier Univ, INSERM U1183, Montpellier, France

[17] CHU Montpellier, Genet Clin, Dept Genet Med Malad Rares & Med Personnalisee, Ctr Reference Anomalies Dev SOOR,ERN ITHACA, Montpellier, France

[18] Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France

[19] Univ Claude Bernard Lyon 1, Inst NeuroMyoGene, CNRS UMR5310, INSERM U1217, Lyon, France

[20] Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France

[21] Univ Claude Bernard Lyon 1, INSERM U1028, Ctr Rech Neurosci Lyon, Equipe GENDEV,CNRS UMR5292, Lyon, France

[22] CHU Rennes, Dept Med Genet, Hop Sud, Reference Ctr Rare Dis Intellectual Deficiencie, Rennes, France

[23] CHU Rennes, Serv Genet Mol & Genom, F-35033 Rennes, France

[24] Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France

[25] Univ Southampton, Southampton, Hants, England

[26] Univ Hosp Southampton, Fac Med, Southampton, Hants, England

[27] Univ Hosp Bristol, Dept Clin Genet, Bristol, Avon, England

[28] Telethon Inst Genet & Med, Pozzuoli, Italy

[29] Guys & St Thomas Natl Hlth Syst Fdn Trust, Dept Clin Genet, London, England

[30] Connecticut Childrens Med Ctr, Dept Neurol & Pediat, Farmington, CT USA

[31] Univ Connecticut, Sch Med, Dept Neurol, Farmington, CT USA

[32] Univ Connecticut, Sch Med, Dept Pediat, Farmington, CT USA

[33] Erasmus MC, Rotterdam, Netherlands

[34] Helsinki Univ Hosp, Dept Clin Genet, Helsinki, Finland

[35] Radboud Inst Mol Life Sci, Radboudumc Ctr Mol & Biomol Informat, Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：

P09.031.C

引用

页码：456 / 457

页数：2

共 33 条

[31] Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
Kleefstra, T.
van Zelst-Stams, W. A.
Nillesen, W. M.
Cormier-Daire, V.
Houge, G.
Foulds, N.
van Dooren, M.
Willemsen, M. H.
Pfundt, R.
Turner, A.
Wilson, M.
McGaughran, J.
Rauch, A.
Zenker, M.
Adam, M. P.
Innes, M.
Davies, C.
Gonzalez-Meneses Lopez, A.
Casalone, R.
Weber, A.
Brueton, L. A.
Delicado Navarro, A.
Palomares Bralo, M.
Venselaar, H.
Stegmann, S. P. A.
Yntema, H. G.
van Bokhoven, H.
Brunner, H. G.
JOURNAL OF MEDICAL GENETICS, 2009, 46 (09) : 598 - 606
[32] 9q34.3微缺失导致的EHMT1基因全外显子1-27杂合缺失的Kleefstra综合征一例报道
李国艳
刘超
魏子涵
曹咪
冯研
甘亚静
邓艳春
实用心脑肺血管病杂志, 2023, 31 (07) : 138 - 140
[33] Discovery of a Novel Chemotype of Histone Lysine Methyltransferase EHMT1/2 (GLP/G9a) Inhibitors: Rational Design, Synthesis, Biological Evaluation, and Co-crystal Structure
Milite, Ciro
Feoli, Alessandra
Horton, John R.
Rescigno, Donatella
Cipriano, Alessandra
Pisapia, Vincenzo
Viviano, Monica
Pepe, Giacomo
Amendola, Giorgio
Novellino, Ettore
Cosconati, Sandro
Cheng, Xiaodong
Castellano, Sabrina
Sbardella, Gianluca
JOURNAL OF MEDICINAL CHEMISTRY, 2019, 62 (05) : 2666 - 2689

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