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Select item 84099931.

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

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

JCI Insight. 2021 Aug 23; 6(16): e146364. Published online 2021 Aug 23. doi: 10.1172/jci.insight.146364

PMCID:: PMC8409993

Abstract Article PDF–27M

Select item 33764852.

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

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

Am J Hum Genet. 2012 May 4; 90(5): 871–878. doi: 10.1016/j.ajhg.2012.03.016

PMCID:: PMC3376485

Abstract Article PDF–1.2M

Select item 43153163.

Molecular genetics of human primary microcephaly: an overview

Muhammad Faheem, Muhammad Imran Naseer, Mahmood Rasool, Adeel G Chaudhary, Taha A Kumosani, Asad Muhammad Ilyas, Peter Natesan Pushparaj, Farid Ahmed, Hussain A Algahtani, Mohammad H Al-Qahtani, Hasan Saleh Jamal

BMC Med Genomics. 2015; 8(Suppl 1): S4. Published online 2015 Jan 15. doi: 10.1186/1755-8794-8-S1-S4

PMCID:: PMC4315316

Abstract Article PDF–345K

Select item 4199934.

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

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

Am J Hum Genet. 2002 Jul; 71(1): 136–142. Published online 2002 Jun 3. doi: 10.1086/341283

PMCID:: PMC419993

Abstract Article PDF–519K

Select item 12879345.

A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31

Lisa Pattison, Yanick J. Crow, V. Jayne Deeble, Andrew P. Jackson, Hussain Jafri, Yasmin Rashid, Emma Roberts, C. Geoffrey Woods

Am J Hum Genet. 2000 Dec; 67(6): 1578–1580. Published online 2000 Nov 7. doi: 10.1086/316910

PMCID:: PMC1287934

Abstract Article PDF–210K

Select item 13773076.

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

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

Am J Hum Genet. 1998 Aug; 63(2): 541–546. doi: 10.1086/301966

PMCID:: PMC1377307

Summary PDF–498K

Select item 20729457.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

Muhammad Jawad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Salman Chishti, Wasim Ahmad

BMC Med Genet. 2007; 8: 58. Published online 2007 Sep 1. doi: 10.1186/1471-2350-8-58

PMCID:: PMC2072945

Abstract Article PDF–329K

Select item 26680208.

Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

Am J Hum Genet. 2009 Feb 13; 84(2): 286–290. doi: 10.1016/j.ajhg.2009.01.017

PMCID:: PMC2668020

Abstract Article PDF–464K

Select item 33716559.

Cdk5rap2 Exposes the Centrosomal Root of Microcephaly Syndromes

Timothy L. Megraw, James T. Sharkey, Richard S. Nowakowski

Trends Cell Biol. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Trends Cell Biol. 2011 Aug; 21(8): 470–480. Published online 2011 May 31. doi: 10.1016/j.tcb.2011.04.007

PMCID:: PMC3371655

Abstract Article PDF–1.1M

Select item 358942510.

Primary Microcephaly Gene MCPH1 Shows Signatures of Tumor Suppressors and Is Regulated by miR-27a in Oral Squamous Cell Carcinoma

Thejaswini Venkatesh, Mathighatta Nagaraj Nagashri, Shivananda S. Swamy, S. M. Azeem Mohiyuddin, Kodaganur S. Gopinath, Arun Kumar

PLoS One. 2013; 8(3): e54643. Published online 2013 Mar 5. doi: 10.1371/journal.pone.0054643

PMCID:: PMC3589425

Abstract Article PDF–2.8M

Select item 363919511.

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl

Orphanet J Rare Dis. 2013; 8: 59. Published online 2013 Apr 15. doi: 10.1186/1750-1172-8-59

PMCID:: PMC3639195

Abstract Article PDF–2.0M

Select item 372834412.

Cep63 and Cep152 Cooperate to Ensure Centriole Duplication

Nicola J. Brown, Marko Marjanović, Jens Lüders, Travis H. Stracker, Vincenzo Costanzo

PLoS One. 2013; 8(7): e69986. Published online 2013 Jul 30. doi: 10.1371/journal.pone.0069986

PMCID:: PMC3728344

Abstract Article PDF–9.3M

Select item 415205013.

Primary microcephaly gene MCPH1 shows a novel molecular biomarker of human renal carcinoma and is regulated by miR-27a

Ning Wang, Hongsheng Lu, Weifei Chen, Meifu Gan, Xuequan Cao, Jushi Zhang, Lanxi Chen

Int J Clin Exp Pathol. 2014; 7(8): 4895–4903. Published online 2014 Jul 15.

PMCID:: PMC4152050

Abstract Article PDF–1.1M

Select item 422582514.

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M Kaindl

Orphanet J Rare Dis. 2013; 8: 178. Published online 2013 Nov 14. doi: 10.1186/1750-1172-8-178

PMCID:: PMC4225825

Abstract Article PDF–1.5M

Select item 945505415.

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

Yaru Wang, Wen Zong, Wenli Sun, Chengyan Chen, Zhao-Qi Wang, Tangliang Li

Cells. 2022 Sep; 11(17): 2715. Published online 2022 Aug 31. doi: 10.3390/cells11172715

PMCID:: PMC9455054

Abstract Article PDF–4.2M

Select item 455618816.

Novel Alternative Splice Variants of Mouse Cdk5rap2

Nadine Kraemer, Lina Issa-Jahns, Gerda Neubert, Ethiraj Ravindran, Shyamala Mani, Olaf Ninnemann, Angela M. Kaindl

PLoS One. 2015; 10(8): e0136684. Published online 2015 Aug 31. doi: 10.1371/journal.pone.0136684

PMCID:: PMC4556188

Abstract Article PDF–1.3M

Select item 605260317.

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

BMC Med Genet. 2018; 19: 118. Published online 2018 Jul 18. doi: 10.1186/s12881-018-0625-6

PMCID:: PMC6052603

Abstract Article PDF–728K

Select item 634729418.

MEKK3 coordinates with FBW7 to regulate WDR62 stability and neurogenesis

Dan Xu, Minghui Yao, Yaqing Wang, Ling Yuan, Joerg D. Hoeck, Jingwen Yu, Liang Liu, Yvonne Y. C. Yeap, Weiya Zhang, Feng Zhang, Yinghang Feng, Tiantian Ma, Yujie Wang, Dominic C. H. Ng, Xiaoyin Niu, Bing Su, Axel Behrens, Zhiheng Xu

PLoS Biol. 2018 Dec; 16(12): e2006613. Published online 2018 Dec 19. doi: 10.1371/journal.pbio.2006613

PMCID:: PMC6347294

Abstract Article PDF–3.5M

Select item 686515119.

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

Muhammad Naveed, Syeda Khushbakht Kazmi, Mariyam Amin, Zainab Asif, Ushna Islam, Kinza Shahid, Sana Tehreem

Genet Res (Camb) 2018; 100: e7. Published online 2018 Aug 8. doi: 10.1017/S0016672318000046

PMCID:: PMC6865151

Abstract Article PDF–564K

Select item 750747220.

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

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

Mol Genet Genomic Med. 2020 Sep; 8(9): e1408. Published online 2020 Jul 17. doi: 10.1002/mgg3.1408

PMCID:: PMC7507472

Abstract Article PDF–902K

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