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

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

Shranjeno v:

Bibliografske podrobnosti
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
Jezik:	angleščina
Izdano:	2012
Online dostop:	https://doi.org/10.1016/j.ajhg.2012.03.016
Oznake:	Označite Brez oznak, prvi označite!

Podobne knjige/članki

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

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
od: Muhammad Sajid Hussain, et al.
Izdano: (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
od: Rasool, Sajida, et al.
Izdano: (2020)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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