Literature DB >> 12571366

Primary microcephaly: microcephalin and ASPM determine the size of the human brain.

Arun Kumar1, M Markandaya, S C Girimaji.   

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Year:  2002        PMID： 12571366     DOI： 10.1007/BF02708369

Source DB:  PubMed          Journal:  J Biosci        ISSN： 0250-5991            Impact factor:   1.826


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  11 in total

1.  Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

Authors:  C R Jamieson; C Govaerts; M J Abramowicz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  The BRCA1 C-terminal domain: structure and function.

Authors:  T Huyton; P A Bates; X Zhang; M J Sternberg; P S Freemont
Journal:  Mutat Res       Date:  2000-08-30       Impact factor: 2.433

3.  Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Authors:  A P Jackson; D P McHale; D A Campbell; H Jafri; Y Rashid; J Mannan; G Karbani; P Corry; M I Levene; R F Mueller; A F Markham; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

4.  The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Authors:  E Roberts; A P Jackson; A C Carradice; V J Deeble; J Mannan; Y Rashid; H Jafri; D P McHale; A F Markham; N J Lench; C G Woods
Journal:  Eur J Hum Genet       Date:  1999 Oct-Nov       Impact factor: 4.246

Review 5.  Molecular genetics of human microcephaly.

Authors:  G H Mochida; C A Walsh
Journal:  Curr Opin Neurol       Date:  2001-04       Impact factor: 5.710

6.  A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Authors:  L Moynihan; A P Jackson; E Roberts; G Karbani; I Lewis; P Corry; G Turner; R F Mueller; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

7.  Identification of microcephalin, a protein implicated in determining the size of the human brain.

Authors:  Andrew P Jackson; Helen Eastwood; Sandra M Bell; Jimi Adu; Carmel Toomes; Ian M Carr; Emma Roberts; Daniel J Hampshire; Yanick J Crow; Alan J Mighell; Gulshan Karbani; Hussain Jafri; Yasmin Rashid; Robert F Mueller; Alexander F Markham; C Geoffrey Woods
Journal:  Am J Hum Genet       Date:  2002-06-03       Impact factor: 11.025

8.  ASPM is a major determinant of cerebral cortical size.

Authors:  Jacquelyn Bond; Emma Roberts; Ganesh H Mochida; Daniel J Hampshire; Sheila Scott; Jonathan M Askham; Kelly Springell; Meera Mahadevan; Yanick J Crow; Alexander F Markham; Christopher A Walsh; C Geoffrey Woods
Journal:  Nat Genet       Date:  2002-09-23       Impact factor: 38.330

9.  Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Authors:  E Roberts; D J Hampshire; L Pattison; K Springell; H Jafri; P Corry; J Mannon; Y Rashid; Y Crow; J Bond; C G Woods
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318

10.  A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

Authors:  L Pattison; Y J Crow; V J Deeble; A P Jackson; H Jafri; Y Rashid; E Roberts; C G Woods
Journal:  Am J Hum Genet       Date:  2000-11-07       Impact factor: 11.043
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  10 in total

1.  Brain shape in human microcephalics and Homo floresiensis.

Authors:  Dean Falk; Charles Hildebolt; Kirk Smith; M J Morwood; Thomas Sutikna; E Wayhu Saptomo; Herwig Imhof; Horst Seidler; Fred Prior
Journal:  Proc Natl Acad Sci U S A       Date:  2007-02-02       Impact factor: 11.205

2.  Evolution of the human ASPM gene, a major determinant of brain size.

Authors:  Jianzhi Zhang
Journal:  Genetics       Date:  2003-12       Impact factor: 4.562

3.  Acute Lengthening of Progenitor Mitosis Influences Progeny Fate during Cortical Development in vivo.

Authors:  Aaron Mitchell-Dick; Andrea Chalem; Louis-Jan Pilaz; Debra L Silver
Journal:  Dev Neurosci       Date:  2020-06-15       Impact factor: 2.984

4.  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

5.  MCPH1, beyond its role deciding the brain size.

Authors:  Martina Kristofova; Zhao-Qi Wang
Journal:  Aging (Albany NY)       Date:  2021-10-27       Impact factor: 5.682

6.  The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.

Authors:  Yaru Wang; Wen Zong; Wenli Sun; Chengyan Chen; Zhao-Qi Wang; Tangliang Li
Journal:  Cells       Date:  2022-08-31       Impact factor: 7.666

7.  Hepatitis C virus NS5A protein down-regulates the expression of spindle gene Aspm through PKR-p38 signaling pathway.

Authors:  Shun-Chi Wu; Shin C Chang; Hung-Yi Wu; Pei-Ju Liao; Ming-Fu Chang
Journal:  J Biol Chem       Date:  2008-08-26       Impact factor: 5.157

8.  The interleukin 3 gene (IL3) contributes to human brain volume variation by regulating proliferation and survival of neural progenitors.

Authors:  Xiong-jian Luo; Ming Li; Liang Huang; Kwangsik Nho; Min Deng; Qiang Chen; Daniel R Weinberger; Alejandro Arias Vasquez; Mark Rijpkema; Venkata S Mattay; Andrew J Saykin; Li Shen; Guillén Fernández; Barbara Franke; Jing-chun Chen; Xiang-ning Chen; Jin-Kai Wang; Xiao Xiao; Xue-bin Qi; Kun Xiang; Ying-Mei Peng; Xiang-yu Cao; Yi Li; Xiao-dong Shi; Lin Gan; Bing Su
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

9.  ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Authors:  Rotem Kadir; Tamar Harel; Barak Markus; Yonatan Perez; Anna Bakhrat; Idan Cohen; Michael Volodarsky; Miora Feintsein-Linial; Elana Chervinski; Joel Zlotogora; Sara Sivan; Ramon Y Birnbaum; Uri Abdu; Stavit Shalev; Ohad S Birk
Journal:  PLoS Genet       Date:  2016-03-23       Impact factor: 5.917

Review 10.  Multifaceted Microcephaly-Related Gene MCPH1.

Authors:  Martina Kristofova; Alessandro Ori; Zhao-Qi Wang
Journal:  Cells       Date:  2022-01-14       Impact factor: 6.600
  10 in total

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