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

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

保存先:

書誌詳細
主要な著者:	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
フォーマット:	Artigo
言語:	英語
出版事項:	2012
オンライン･アクセス:	https://doi.org/10.1016/j.ajhg.2012.03.016
タグ:	タグ追加タグなし, このレコードへの初めてのタグを付けませんか!

類似資料

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
著者:: Hussain, Muhammad Sajid, 等
出版事項: (2012)

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
著者:: Muhammad Sajid Hussain, 等
出版事項: (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
著者:: Rasool, Sajida, 等
出版事項: (2020)

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
著者:: Sukumaran, Salil K., 等
出版事項: (2016)

Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells
著者:: Inanç, Burcu, 等
出版事項: (2013)

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
著者:: Muzammil Ahmad Khan, 等
出版事項: (2014)

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
著者:: Makhdoom, Ehtisham Ul Haq, 等
出版事項: (2021)

CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells
著者:: Ganapathi Sankaran, Divya, 等
出版事項: (2019)

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
著者:: Waseem, Syeda Seema, 等
出版事項: (2021)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
著者:: Guernsey, Duane L., 等
出版事項: (2010)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
著者:: Duane L. Guernsey, 等
出版事項: (2010)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
著者:: Lin, Yu-Chih, 等
出版事項: (2013)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
著者:: Yu‐Chih Lin, 等
出版事項: (2013)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
著者:: Hardy, Tara, 等
出版事項: (2014)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
著者:: Tara Hardy, 等
出版事項: (2014)

The Centriolar Protein Bld10/Cep135 Is Required to Establish Centrosome Asymmetry in Drosophila Neuroblasts
著者:: Priyanka Singh, 等
出版事項: (2014)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
著者:: Marjanović, Marko, 等
出版事項: (2015)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
著者:: Marko Marjanović, 等
出版事項: (2015)

Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells
著者:: Chu, Zhenzhen, 等
出版事項: (2022)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
著者:: Ohta, Toshiro, 等
出版事項: (2002)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
著者:: Toshiro Ohta, 等
出版事項: (2002)

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
著者:: Carol-Anne Martin, 等
出版事項: (2014)

Selective Chemical Crosslinking Reveals a Cep57-Cep63-Cep152 Centrosomal Complex
著者:: Gražvydas Lukinavičius, 等
出版事項: (2013)

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
著者:: Maha S. Zaki, 等
出版事項: (2015)

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
著者:: Alawbathani, Salem, 等
出版事項: (2018)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
著者:: O’Rourke, Brian P., 等
出版事項: (2014)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
著者:: Brian O’Rourke, 等
出版事項: (2014)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
著者:: Prosser, Suzanna L., 等
出版事項: (2022)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
著者:: Suzanna L. Prosser, 等
出版事項: (2022)

Autophagy controls centrosome number by degrading Cep63
著者:: Watanabe, Yuichiro, 等
出版事項: (2016)

Cep44 functions in centrosome cohesion by stabilizing rootletin
著者:: Hossain, Delowar, 等
出版事項: (2020)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
著者:: Chavali, Pavithra L., 等
出版事項: (2016)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
著者:: Pavithra L. Chavali, 等
出版事項: (2016)

Same but different: pleiotropy in centrosome-related microcephaly
著者:: O’Neill, Ryan S., 等
出版事項: (2018)

The APC/C targets the Cep152–Cep63 complex at the centrosome to regulate mitotic spindle assembly
著者:: Tischer, Thomas, 等
出版事項: (2022)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
著者:: Namburi, Prasanthi, 等
出版事項: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
著者:: Namburi, Prasanthi, 等
出版事項: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
著者:: Prasanthi Namburi, 等
出版事項: (2016)

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
著者:: Prasanthi Namburi, 等
出版事項: (2016)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
著者:: Duerinckx, Sarah, 等
出版事項: (2019)