Literature DB >> 26657937

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

Muhammad Farooq1, Ambrin Fatima2, Yuan Mang1, Lars Hansen1, Klaus Wilbrandt Kjaer1, Shahid Mahmood Baig2, Lars Allan Larsen1, Niels Tommerup1.   

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Year:  2015        PMID： 26657937     DOI： 10.1038/jhg.2015.138

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  8 in total

1.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

2.  Bld10p constitutes the cartwheel-spoke tip and stabilizes the 9-fold symmetry of the centriole.

Authors:  Madoka Hiraki; Yuki Nakazawa; Ritsu Kamiya; Masafumi Hirono
Journal:  Curr Biol       Date:  2007-09-27       Impact factor: 10.834

3.  A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

Authors:  Muzammil A Khan; Verena M Rupp; Meritxell Orpinell; Muhammad S Hussain; Janine Altmüller; Michel O Steinmetz; Christian Enzinger; Holger Thiele; Wolfgang Höhne; Gudrun Nürnberg; Shahid M Baig; Muhammad Ansar; Peter Nürnberg; John B Vincent; Michael R Speicher; Pierre Gönczy; Christian Windpassinger
Journal:  Hum Mol Genet       Date:  2014-06-20       Impact factor: 6.150

Review 4.  Splicing of messenger RNA precursors.

Authors:  R A Padgett; P J Grabowski; M M Konarska; S Seiler; P A Sharp
Journal:  Annu Rev Biochem       Date:  1986       Impact factor: 23.643

5.  Autosomal recessive primary microcephalies (MCPH).

Authors:  Angela M Kaindl
Journal:  Eur J Paediatr Neurol       Date:  2014-04-16       Impact factor: 3.140

6.  A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

Authors:  Muhammad Sajid Hussain; Shahid Mahmood Baig; Sascha Neumann; Gudrun Nürnberg; Muhammad Farooq; Ilyas Ahmad; Thomas Alef; Hans Christian Hennies; Martin Technau; Janine Altmüller; Peter Frommolt; Holger Thiele; Angelika Anna Noegel; Peter Nürnberg
Journal:  Am J Hum Genet       Date:  2012-04-19       Impact factor: 11.025

7.  Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly.

Authors:  Yu-Chih Lin; Ching-Wen Chang; Wen-Bin Hsu; Chieh-Ju C Tang; Yi-Nan Lin; En-Ju Chou; Chien-Ting Wu; Tang K Tang
Journal:  EMBO J       Date:  2013-03-19       Impact factor: 11.598

8.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937
  8 in total
  8 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.  Genome-wide association studies identified multiple genetic loci for body size at four growth stages in Chinese Holstein cattle.

Authors:  Xu Zhang; Qin Chu; Gang Guo; Ganghui Dong; Xizhi Li; Qin Zhang; Shengli Zhang; Zhiwu Zhang; Yachun Wang
Journal:  PLoS One       Date:  2017-04-20       Impact factor: 3.240

Review 3.  Human Brain Organoids to Decode Mechanisms of Microcephaly.

Authors:  Elke Gabriel; Anand Ramani; Nazlican Altinisik; Jay Gopalakrishnan
Journal:  Front Cell Neurosci       Date:  2020-05-08       Impact factor: 5.505

Review 4.  Time is of the essence: the molecular mechanisms of primary microcephaly.

Authors:  Thao P Phan; Andrew J Holland
Journal:  Genes Dev       Date:  2021-12-01       Impact factor: 12.890

5.  Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype.

Authors:  Attya Omer Javed; Yun Li; Julien Muffat; Kuan-Chung Su; Malkiel A Cohen; Tenzin Lungjangwa; Patrick Aubourg; Iain M Cheeseman; Rudolf Jaenisch
Journal:  Cell Rep       Date:  2018-10-09       Impact factor: 9.423

6.  An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Authors:  Sajida Rasool; Jamshaid Mahmood Baig; Abubakar Moawia; Ilyas Ahmad; Maria Iqbal; Syeda Seema Waseem; Maria Asif; Uzma Abdullah; Ehtisham Ul Haq Makhdoom; Emrah Kaygusuz; Muhammad Zakaria; Shafaq Ramzan; Saif Ul Haque; Asif Mir; Iram Anjum; Mehak Fiaz; Zafar Ali; Muhammad Tariq; Neelam Saba; Wajid Hussain; Birgit Budde; Saba Irshad; Angelika Anna Noegel; Stefan Höning; Shahid Mahmood Baig; Peter Nürnberg; Muhammad Sajid Hussain
Journal:  Mol Genet Genomic Med       Date:  2020-07-17       Impact factor: 2.183

Review 7.  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

8.  Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias.

Authors:  José González-Martínez; Andrzej W Cwetsch; Diego Martínez-Alonso; Luis R López-Sainz; Jorge Almagro; Anna Melati; Jesús Gómez; Manuel Pérez-Martínez; Diego Megías; Jasminka Boskovic; Javier Gilabert-Juan; Osvaldo Graña-Castro; Alessandra Pierani; Axel Behrens; Sagrario Ortega; Marcos Malumbres
Journal:  JCI Insight       Date:  2021-08-23
  8 in total

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