Literature DB >> 20101680

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1.

Muhammad Farooq1, Shahid Baig, Niels Tommerup, Klaus W Kjaer.   

Abstract

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Year:  2010        PMID： 20101680     DOI： 10.1002/ajmg.a.33234

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  13 in total

Review 1.  Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Authors:  Muhammad Naveed; Syeda Khushbakht Kazmi; Mariyam Amin; Zainab Asif; Ushna Islam; Kinza Shahid; Sana Tehreem
Journal:  Genet Res (Camb)       Date:  2018-08-08       Impact factor: 1.588

2.  Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

Authors:  M Ghani-Kakhki; P N Robinson; S Morlot; D Mitter; M Trimborn; B Albrecht; R Varon; K Sperling; H Neitzel
Journal:  Mol Syndromol       Date:  2012-06-13

Review 3.  Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.

Authors:  Saqib Mahmood; Wasim Ahmad; Muhammad J Hassan
Journal:  Orphanet J Rare Dis       Date:  2011-06-13       Impact factor: 4.123

Review 4.  MCPH1: a window into brain development and evolution.

Authors:  Jeremy N Pulvers; Nathalie Journiac; Yoko Arai; Jeannette Nardelli
Journal:  Front Cell Neurosci       Date:  2015-03-27       Impact factor: 5.505

5.  The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.

Authors:  Xiaoqian Liu; Nadine Schneble-Löhnert; Martina Kristofova; Xiaobing Qing; Jan Labisch; Susanne Hofmann; Sandra Ehrenberg; Mara Sannai; Tjard Jörß; Alessandro Ori; Maren Godmann; Zhao-Qi Wang
Journal:  Cell Death Dis       Date:  2021-02-01       Impact factor: 8.469

6.  The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.

Authors:  Dehua Cheng; Shimin Yuan; Liang Hu; Duo Yi; Keli Luo; Fei Gong; Changfu Lu; Guangxiu Lu; Ge Lin; Yue-Qiu Tan
Journal:  J Assist Reprod Genet       Date:  2020-10-22       Impact factor: 3.412

7.  Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.

Authors:  Wei Shi; Amanda L Bain; Bjoern Schwer; Fares Al-Ejeh; Corey Smith; Lee Wong; Hua Chai; Mariska S Miranda; Uda Ho; Makoto Kawaguchi; Yutaka Miura; John W Finnie; Meaghan Wall; Jörg Heierhorst; Carol Wicking; Kevin J Spring; Frederick W Alt; Kum Kum Khanna
Journal:  PLoS Genet       Date:  2013-02-07       Impact factor: 5.917

8.  Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma.

Authors:  Thejaswini Venkatesh; Mathighatta Nagaraj Nagashri; Shivananda S Swamy; S M Azeem Mohiyuddin; Kodaganur S Gopinath; Arun Kumar
Journal:  PLoS One       Date:  2013-03-05       Impact factor: 3.240

9.  TALEN-based generation of a cynomolgus monkey disease model for human microcephaly.

Authors:  Qiong Ke; Weiqiang Li; Xingqiang Lai; Hong Chen; Lihua Huang; Zhuang Kang; Kai Li; Jie Ren; Xiaofeng Lin; Haiqing Zheng; Weijun Huang; Yunhan Ma; Dongdong Xu; Zheng Chen; Xinming Song; Xinyi Lin; Min Zhuang; Tao Wang; Fengfeng Zhuang; Jianzhong Xi; Frank Fuxiang Mao; Huimin Xia; Bruce T Lahn; Qi Zhou; Shihua Yang; Andy Peng Xiang
Journal:  Cell Res       Date:  2016-08-09       Impact factor: 25.617

Review 10.  Dissecting the Genetic and Etiological Causes of Primary Microcephaly.

Authors:  Francesca Jean; Amanda Stuart; Maja Tarailo-Graovac
Journal:  Front Neurol       Date:  2020-10-15       Impact factor: 4.003
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