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Items: 19

Select item 68651511.

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 2323522.

Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation.

W Jongmans, M Vuillaume, K Chrzanowska, D Smeets, K Sperling, J Hall

Mol Cell Biol. 1997 Sep; 17(9): 5016–5022. doi: 10.1128/mcb.17.9.5016

PMCID:: PMC232352

Summary PDF–559K

Select item 12881253.

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

Leanne Moynihan, Andrew P. Jackson, Emma Roberts, Gulshan Karbani, Ian Lewis, Peter Corry, Gwen Turner, Robert F. Mueller, Nicholas J. Lench, C. Geoffrey Woods

Am J Hum Genet. 2000 Feb; 66(2): 724–727. Published online 2000 Jan 19. doi: 10.1086/302777

PMCID:: PMC1288125

Abstract Article PDF–157K

Select item 35652214.

Genetics and biology of microcephaly and lissencephaly

Ganeshwaran H. Mochida

Semin Pediatr Neurol. Author manuscript; available in PMC 2013 Feb 6.

Published in final edited form as: Semin Pediatr Neurol. 2009 Sep; 16(3): 120–126. doi: 10.1016/j.spen.2009.07.001

PMCID:: PMC3565221

Abstract Article PDF–1.0M

Select item 42587955.

A novel single base pair duplication in WDR62 causes primary microcephaly

Verena Rupp, Sobiah Rauf, Ishrat Naveed, Windpassinger Christian, Asif Mir

BMC Med Genet. 2014; 15: 107. Published online 2014 Oct 11. doi: 10.1186/s12881-014-0107-4

PMCID:: PMC4258795

Abstract Article PDF–2.4M

Select item 43153166.

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 46151287.

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

Abstract Article PDF–712K

Select item 49387478.

PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive

Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam Gamal, Mohamed S. Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G. Gleeson

Ann Neurol. Author manuscript; available in PMC 2017 Jul 1.

Published in final edited form as: Ann Neurol. 2016 Jul; 80(1): 59–70. Published online 2016 Jun 1. doi: 10.1002/ana.24678

PMCID:: PMC4938747

Abstract Article PDF–1.0M

Select item 51179229.

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

Makiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, Masafumi Miyata, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh, Hiroki Kurahashi

Eur J Hum Genet. 2016 Dec; 24(12): 1702–1706. Published online 2016 Sep 21. doi: 10.1038/ejhg.2016.119

PMCID:: PMC5117922

Abstract Article PDF–1.2M

Select item 634729410.

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 1097642211.

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review

Mohammad Jahanpanah, Diana Mokhtari, Haleh Mokaber, Sara Arish, Farzad Ahmadabadi, Behzad Davarnia

Mol Genet Genomic Med. 2024 Apr; 12(4): e2424. Published online 2024 Mar 28. doi: 10.1002/mgg3.2424

PMCID:: PMC10976422

Abstract Article PDF–1.8M

Select item 809174512.

Molecular evolutionary analysis of human primary microcephaly genes

Nashaiman Pervaiz, Hongen Kang, Yiming Bao, Amir Ali Abbasi

BMC Ecol Evol. 2021; 21: 76. Published online 2021 May 3. doi: 10.1186/s12862-021-01801-0

PMCID:: PMC8091745

Abstract Article PDF–967K

Select item 849804313.

Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population

Xianze Luo, Qing Liu, Jinqiu Jiang, Wenjing Tang, Yuan Ding, Lina Zhou, Jie Yu, Xuemei Tang, Yunfei An, Xiaodong Zhao

Front Immunol. 2021; 12: 695993. Published online 2021 Sep 24. doi: 10.3389/fimmu.2021.695993

PMCID:: PMC8498043

Abstract Article PDF–1.9M

Select item 853565614.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

Syeda Seema Waseem, Abubakar Moawia, Birgit Budde, Muhammad Tariq, Ayaz Khan, Zafar Ali, Sheraz Khan, Maria Iqbal, Naveed Altaf Malik, Saif ul Haque, Janine Altmüller, Holger Thiele, Muhammad Sajid Hussain, Sebahattin Cirak, Shahid Mahmood Baig, Peter Nürnberg

Genes (Basel) 2021 Oct; 12(10): 1494. Published online 2021 Sep 24. doi: 10.3390/genes12101494

PMCID:: PMC8535656

Abstract Article PDF–2.2M

Select item 876954315.

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

Abstract Article PDF–1.2M

Select item 918854616.

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

Abstract Article PDF–1.8M

Select item 977844217.

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

Gabriela Roldão Correia-Costa, Ana Mondadori dos Santos, Nicole de Leeuw, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira

Genes (Basel) 2022 Dec; 13(12): 2377. Published online 2022 Dec 16. doi: 10.3390/genes13122377

PMCID:: PMC9778442

Abstract Article PDF–1.0M

Select item 1004769318.

The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly

Alyona V. Razuvaeva, Lucia Graziadio, Valeria Palumbo, Gera A. Pavlova, Julia V. Popova, Alexey V. Pindyurin, Silvia Bonaccorsi, Maria Patrizia Somma, Maurizio Gatti

Cells. 2023 Mar; 12(6): 922. Published online 2023 Mar 16. doi: 10.3390/cells12060922

PMCID:: PMC10047693

Abstract Article PDF–917K

Select item 1024152119.

Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors

Claudia Dell'Amico, Marilyn M Angulo Salavarria, Yutaka Takeo, Ichiko Saotome, Maria Teresa Dell'Anno, Maura Galimberti, Enrica Pellegrino, Elena Cattaneo, Angeliki Louvi, Marco Onorati

eLife. 2023; 12: e81716. Published online 2023 Jun 5. doi: 10.7554/eLife.81716