Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Published:2017-03-10 Issue:4 Volume:136 Page:463-479
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Depienne Christel, ,Nava Caroline,Keren Boris,Heide Solveig,Rastetter Agnès,Passemard Sandrine,Chantot-Bastaraud Sandra,Moutard Marie-Laure,Agrawal Pankaj B.,VanNoy Grace,Stoler Joan M.,Amor David J.,Billette de Villemeur Thierry,Doummar Diane,Alby Caroline,Cormier-Daire Valérie,Garel Catherine,Marzin Pauline,Scheidecker Sophie,de Saint-Martin Anne,Hirsch Edouard,Korff Christian,Bottani Armand,Faivre Laurence,Verloes Alain,Orzechowski Christine,Burglen Lydie,Leheup Bruno,Roume Joelle,Andrieux Joris,Sheth Frenny,Datar Chaitanya,Parker Michael J.,Pasquier Laurent,Odent Sylvie,Naudion Sophie,Delrue Marie-Ange,Le Caignec Cédric,Vincent Marie,Isidor Bertrand,Renaldo Florence,Stewart Fiona,Toutain Annick,Koehler Udo,Häckl Birgit,von Stülpnagel Celina,Kluger Gerhard,Møller Rikke S.,Pal Deb,Jonson Tord,Soller Maria,Verbeek Nienke E.,van Haelst Mieke M.,de Kovel Carolien,Koeleman Bobby,Monroe Glen,van Haaften Gijs,Attié-Bitach Tania,Boutaud Lucile,Héron Delphine,Mignot Cyril

Funder

Assistance Publique - Hôpitaux de Paris

Fondation Maladies Rares

Fondation de France

Agence Nationale de la Recherche

INSERM

Agence de la Biomédecine

Investissements d’Avenir

Fondation pour la Recherche Médicale

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-017-1772-0.pdf

Reference42 articles.

1. Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG (2012) High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 131:145–156. doi: 10.1007/s00439-011-1073-y

2. Baubet V, Xiang C, Molczan A, Roccograndi L, Melamed S, Dahmane N (2012) Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. Development 139:1903–1909. doi: 10.1242/dev.075606

3. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC (2007) Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 81:292–303. doi: 10.1086/519999

4. Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tonnies H, van’t Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M (2010) Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet 53:179–185. doi: 10.1016/j.ejmg.2010.04.001

5. Carvill GL, Heavin SB, Yendle SC, McMahon JM, O’Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Moller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC (2013) Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 45:825–830. doi: 10.1038/ng.2646

Cited by 66 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. hnRNPs: roles in neurodevelopment and implication for brain disorders;Frontiers in Molecular Neuroscience;2024-07-17

2. Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis;Frontiers in Genetics;2024-05-23

3. Biological functions and clinic significance of SAF‑A (Review);Biomedical Reports;2024-04-10

4. Minocycline prevents early age-related cognitive decline in a mouse model of intellectual disability caused by ZBTB18/RP58 haploinsufficiency;2024-03-01

5. A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review;Medicine;2024-01-12

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3