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Select item 41202431.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Christel Thauvin-Robinet, Jaclyn S. Lee, Estelle Lopez, Vicente Herranz-Pérez, Toshinobu Shida, Brunella Franco, Laurence Jego, Fan Ye, Laurent Pasquier, Philippe Loget, Nadège Gigot, Bernard Aral, Carla A.M. Lopes, Judith St-Onge, Ange-Line Bruel, Julien Thevenon, Susana González-Granero, Caroline Alby, Arnold Munnich, Michel Vekemans, Frédéric Huet, Andrew M. Fry, Sophie Saunier, Jean-Baptiste Rivière, Tania Attié-Bitach, Jose Manuel Garcia-Verdugo, Laurence Faivre, André Mégarbané, Maxence V. Nachury

Nat Genet. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Nat Genet. 2014 Aug; 46(8): 905–911. Published online 2014 Jul 6. doi: 10.1038/ng.3031

PMCID:: PMC4120243

Article PDF–2.2M

Select item 39032302.

Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis

Xiangdong Zheng, Li Ming Gooi, Arpit Wason, Elke Gabriel, Narges Zare Mehrjardi, Qian Yang, Xingrun Zhang, Alain Debec, Marcus L. Basiri, Tomer Avidor-Reiss, Andrei Pozniakovsky, Ina Poser, Tomo Šarić, Anthony A. Hyman, Haitao Li, Jay Gopalakrishnan

Proc Natl Acad Sci U S A. 2014 Jan 21; 111(3): E354–E363. Published online 2014 Jan 2. doi: 10.1073/pnas.1317535111

PMCID:: PMC3903230

Article PDF–2.6M

Select item 34992563.

Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

Rebecca E. McIntyre, Pavithra Lakshminarasimhan Chavali, Ozama Ismail, Damian M. Carragher, Gabriela Sanchez-Andrade, Josep V. Forment, Beiyuan Fu, Martin Del Castillo Velasco-Herrera, Andrew Edwards, Louise van der Weyden, Fengtang Yang, Sanger Mouse Genetics Project, Ramiro Ramirez-Solis, Jeanne Estabel, Ferdia A. Gallagher, Darren W. Logan, Mark J. Arends, Stephen H. Tsang, Vinit B. Mahajan, Cheryl L. Scudamore, Jacqueline K. White, Stephen P. Jackson, Fanni Gergely, David J. Adams

PLoS Genet. 2012 Nov; 8(11): e1003022. Published online 2012 Nov 15. doi: 10.1371/journal.pgen.1003022

PMCID:: PMC3499256

Article PDF–1.6M

Select item 28967834.

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Duane L. Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Scott Perry, Tina Babineau-Sturk, Jill Beis, Nadine Dumas, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Lysanne Patry, Andrea L. Rideout, Aidan Thomas, Andrew Orr, Ingrid Hoffmann, Jacques L. Michaud, Philip Awadalla, David C. Meek, Mark Ludman, Mark E. Samuels

Am J Hum Genet. 2010 Jul 9; 87(1): 40–51. doi: 10.1016/j.ajhg.2010.06.003

PMCID:: PMC2896783

Article PDF–1.8M

Select item 26680205.

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

Article PDF–464K

Select item 11993636.

Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings

C. Geoffrey Woods, Jacquelyn Bond, Wolfgang Enard

Am J Hum Genet. 2005 May; 76(5): 717–728. Published online 2005 Mar 31. doi: 10.1086/429930

PMCID:: PMC1199363

Article PDF–160K

Select item 37765567.

Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly

Matthew A Cottee, Nadine Muschalik, Yao Liang Wong, Christopher M Johnson, Steven Johnson, Antonina Andreeva, Karen Oegema, Susan M Lea, Jordan W Raff, Mark van Breugel

eLife. 2013; 2: e01071. Published online 2013 Sep 17. doi: 10.7554/eLife.01071

PMCID:: PMC3776556

Article PDF–3.4M

Select item 33720478.

Investigation of Genetic Causes of Intellectual Disability in Kerman Province, South East of Iran

M J Soltani Banavandi, K Kahrizi, F Behjati, M Mohseni, H Darvish, I Bahman, S S Abedinni, S Ghasemi Firouzabadi, E Jafari, Sh Ghadami, F Sabbagh, Gh R Kavoosi, H Najmabadi

Iran Red Crescent Med J. 2012 Feb; 14(2): 79–85. Published online 2012 Feb 1.

PMCID:: PMC3372047

Article PDF–252K

Select item 91885469.

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome

Malte Zorn, Jirko Kühnisch, Sebastian Bachmann, Wenke Seifert

Sci Rep. 2022; 12: 9686. Published online 2022 Jun 11. doi: 10.1038/s41598-022-13717-w

PMCID:: PMC9188546

Article PDF–1.8M

Select item 904675710.

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability

Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M Kaindl

J Med Genet. 2022 May; 59(5): 453–461. Published online 2021 May 31. doi: 10.1136/jmedgenet-2020-107518

PMCID:: PMC9046757

Article PDF–4.7M

Select item 876954311.

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

Sara Carvalhal, Ingrid Bader, Martin A. Rooimans, Anneke B. Oostra, Jesper A. Balk, René G. Feichtinger, Christine Beichler, Michael R. Speicher, Johanna M. van Hagen, Quinten Waisfisz, Mieke van Haelst, Martijn Bruijn, Alexandra Tavares, Johannes A. Mayr, Rob M. F. Wolthuis, Raquel A. Oliveira, Job de Lange

Sci Adv. 2022 Jan; 8(3): eabk0114. Published online 2022 Jan 19. doi: 10.1126/sciadv.abk0114

PMCID:: PMC8769543

Article PDF–1.2M

Select item 750747212.

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

Article PDF–902K

Select item 686515113.

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

Article PDF–564K

Select item 650709614.

Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex

Wenyu Ding, Qian Wu, Le Sun, Na Clara Pan, Xiaoqun Wang

J Neurosci. 2019 Mar 13; 39(11): 1994–2010. doi: 10.1523/JNEUROSCI.1849-18.2018

PMCID:: PMC6507096

Article PDF–24M

Select item 629606815.

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin, Jeng-Daw Tsai

Orphanet J Rare Dis. 2018; 13: 226. Published online 2018 Dec 17. doi: 10.1186/s13023-018-0961-9

PMCID:: PMC6296068

Article PDF–4.0M

Select item 607420116.

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit

Ann Saudi Med. 2016 Nov-Dec; 36(6): 391–396. doi: 10.5144/0256-4947.2016.391

PMCID:: PMC6074201

Article PDF–1.2M

Select item 467842817.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Hanan Shamseldin, Anas M. Alazami, Melanie Manning, Amal Hashem, Oana Caluseiu, Brahim Tabarki, Edward Esplin, Susan Schelley, A. Micheil Innes, Jillian S. Parboosingh, Ryan Lamont, Care4Rare Canada Consortium, Jacek Majewski, Francois P. Bernier, Fowzan S. Alkuraya

Am J Hum Genet. 2015 Dec 3; 97(6): 862–868. Published online 2015 Nov 19. doi: 10.1016/j.ajhg.2015.10.012

PMCID:: PMC4678428

Article PDF–1.4M

Select item 461512818.

Lack of centrioles and primary cilia in STIL^−/− mouse embryos

Ahuvit David, Fengying Liu, Alexandra Tibelius, Julia Vulprecht, Diana Wald, Ulrike Rothermel, Reut Ohana, Alexander Seitel, Jasmin Metzger, Ruth Ashery-Padan, Hans-Peter Meinzer, Hermann-Josef Gröne, Shai Izraeli, Alwin Krämer

Cell Cycle. 2014 Sep 15; 13(18): 2859–2868. Published online 2014 Oct 30. doi: 10.4161/15384101.2014.946830

PMCID:: PMC4615128

Article PDF–712K

Select item 442322319.

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

Sandrine Floriot, Christine Vesque, Sabrina Rodriguez, Florence Bourgain-Guglielmetti, Anthi Karaiskou, Mathieu Gautier, Amandine Duchesne, Sarah Barbey, Sébastien Fritz, Alexandre Vasilescu, Maud Bertaud, Mohammed Moudjou, Sophie Halliez, Valérie Cormier-Daire, Joyce E.L. Hokayem, Erich A. Nigg, Luc Manciaux, Raphaël Guatteo, Nora Cesbron, Geraldine Toutirais, André Eggen, Sylvie Schneider-Maunoury, Didier Boichard, Joelle Sobczak-Thépot, Laurent Schibler

Nat Commun. 2015 Apr 23; 6: 6894. Published online 2015 Apr 23. doi: 10.1038/ncomms7894

PMCID:: PMC4423223

Article PDF–2.8M

Select item 431900620.

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke

J Biol Chem. 2015 Feb 6; 290(6): 3349–3358. Published online 2014 Dec 9. doi: 10.1074/jbc.M114.608174

PMCID:: PMC4319006

Article PDF–2.8M

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