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

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

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Bibliografiske detaljer
Main 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 A. Noegel, Peter Nürnberg
Format:	Artigo
Sprog:	engelsk
Udgivet:	2012
Online adgang:	https://doi.org/10.1016/j.ajhg.2012.03.016
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Lignende værker

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
af: Hussain, Muhammad Sajid, et al.
Udgivet: (2012)

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
af: Muhammad Sajid Hussain, et al.
Udgivet: (2013)

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
af: Rasool, Sajida, et al.
Udgivet: (2020)

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
af: Sukumaran, Salil K., et al.
Udgivet: (2016)

Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells
af: Inanç, Burcu, et al.
Udgivet: (2013)

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
af: Muzammil Ahmad Khan, et al.
Udgivet: (2014)

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
af: Makhdoom, Ehtisham Ul Haq, et al.
Udgivet: (2021)

CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells
af: Ganapathi Sankaran, Divya, et al.
Udgivet: (2019)

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
af: Waseem, Syeda Seema, et al.
Udgivet: (2021)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
af: Guernsey, Duane L., et al.
Udgivet: (2010)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
af: Duane L. Guernsey, et al.
Udgivet: (2010)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
af: Lin, Yu-Chih, et al.
Udgivet: (2013)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
af: Yu‐Chih Lin, et al.
Udgivet: (2013)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
af: Hardy, Tara, et al.
Udgivet: (2014)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
af: Tara Hardy, et al.
Udgivet: (2014)

The Centriolar Protein Bld10/Cep135 Is Required to Establish Centrosome Asymmetry in Drosophila Neuroblasts
af: Priyanka Singh, et al.
Udgivet: (2014)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
af: Marjanović, Marko, et al.
Udgivet: (2015)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
af: Marko Marjanović, et al.
Udgivet: (2015)

Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells
af: Chu, Zhenzhen, et al.
Udgivet: (2022)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
af: Ohta, Toshiro, et al.
Udgivet: (2002)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
af: Toshiro Ohta, et al.
Udgivet: (2002)

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
af: Carol-Anne Martin, et al.
Udgivet: (2014)

Selective Chemical Crosslinking Reveals a Cep57-Cep63-Cep152 Centrosomal Complex
af: Gražvydas Lukinavičius, et al.
Udgivet: (2013)

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
af: Maha S. Zaki, et al.
Udgivet: (2015)

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
af: Alawbathani, Salem, et al.
Udgivet: (2018)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
af: O’Rourke, Brian P., et al.
Udgivet: (2014)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
af: Brian O’Rourke, et al.
Udgivet: (2014)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
af: Prosser, Suzanna L., et al.
Udgivet: (2022)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
af: Suzanna L. Prosser, et al.
Udgivet: (2022)

Autophagy controls centrosome number by degrading Cep63
af: Watanabe, Yuichiro, et al.
Udgivet: (2016)

Cep44 functions in centrosome cohesion by stabilizing rootletin
af: Hossain, Delowar, et al.
Udgivet: (2020)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
af: Chavali, Pavithra L., et al.
Udgivet: (2016)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
af: Pavithra L. Chavali, et al.
Udgivet: (2016)

Same but different: pleiotropy in centrosome-related microcephaly
af: O’Neill, Ryan S., et al.
Udgivet: (2018)

The APC/C targets the Cep152–Cep63 complex at the centrosome to regulate mitotic spindle assembly
af: Tischer, Thomas, et al.
Udgivet: (2022)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
af: Namburi, Prasanthi, et al.
Udgivet: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
af: Namburi, Prasanthi, et al.
Udgivet: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
af: Prasanthi Namburi, et al.
Udgivet: (2016)

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
af: Prasanthi Namburi, et al.
Udgivet: (2016)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
af: Duerinckx, Sarah, et al.
Udgivet: (2019)