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

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

I tiakina i:

Ngā taipitopito rārangi puna kōrero
Ngā kaituhi matua:	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
Hōputu:	Artigo
Reo:	Ingarihi
I whakaputaina:	2012
Urunga tuihono:	https://doi.org/10.1016/j.ajhg.2012.03.016
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

Ngā tūemi rite

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
mā: Hussain, Muhammad Sajid, me ētahi atu.
I whakaputaina: (2012)

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
mā: Muhammad Sajid Hussain, me ētahi atu.
I whakaputaina: (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
mā: Rasool, Sajida, me ētahi atu.
I whakaputaina: (2020)

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
mā: Sukumaran, Salil K., me ētahi atu.
I whakaputaina: (2016)

Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells
mā: Inanç, Burcu, me ētahi atu.
I whakaputaina: (2013)

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
mā: Muzammil Ahmad Khan, me ētahi atu.
I whakaputaina: (2014)

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
mā: Makhdoom, Ehtisham Ul Haq, me ētahi atu.
I whakaputaina: (2021)

CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells
mā: Ganapathi Sankaran, Divya, me ētahi atu.
I whakaputaina: (2019)

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
mā: Waseem, Syeda Seema, me ētahi atu.
I whakaputaina: (2021)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
mā: Guernsey, Duane L., me ētahi atu.
I whakaputaina: (2010)

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
mā: Duane L. Guernsey, me ētahi atu.
I whakaputaina: (2010)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
mā: Lin, Yu-Chih, me ētahi atu.
I whakaputaina: (2013)

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
mā: Yu‐Chih Lin, me ētahi atu.
I whakaputaina: (2013)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
mā: Hardy, Tara, me ētahi atu.
I whakaputaina: (2014)

Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
mā: Tara Hardy, me ētahi atu.
I whakaputaina: (2014)

The Centriolar Protein Bld10/Cep135 Is Required to Establish Centrosome Asymmetry in Drosophila Neuroblasts
mā: Priyanka Singh, me ētahi atu.
I whakaputaina: (2014)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
mā: Marjanović, Marko, me ētahi atu.
I whakaputaina: (2015)

CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
mā: Marko Marjanović, me ētahi atu.
I whakaputaina: (2015)

Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells
mā: Chu, Zhenzhen, me ētahi atu.
I whakaputaina: (2022)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
mā: Ohta, Toshiro, me ētahi atu.
I whakaputaina: (2002)

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
mā: Toshiro Ohta, me ētahi atu.
I whakaputaina: (2002)

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
mā: Carol-Anne Martin, me ētahi atu.
I whakaputaina: (2014)

Selective Chemical Crosslinking Reveals a Cep57-Cep63-Cep152 Centrosomal Complex
mā: Gražvydas Lukinavičius, me ētahi atu.
I whakaputaina: (2013)

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
mā: Maha S. Zaki, me ētahi atu.
I whakaputaina: (2015)

Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
mā: Alawbathani, Salem, me ētahi atu.
I whakaputaina: (2018)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
mā: O’Rourke, Brian P., me ētahi atu.
I whakaputaina: (2014)

Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
mā: Brian O’Rourke, me ētahi atu.
I whakaputaina: (2014)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
mā: Prosser, Suzanna L., me ētahi atu.
I whakaputaina: (2022)

Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
mā: Suzanna L. Prosser, me ētahi atu.
I whakaputaina: (2022)

Autophagy controls centrosome number by degrading Cep63
mā: Watanabe, Yuichiro, me ētahi atu.
I whakaputaina: (2016)

Cep44 functions in centrosome cohesion by stabilizing rootletin
mā: Hossain, Delowar, me ētahi atu.
I whakaputaina: (2020)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
mā: Chavali, Pavithra L., me ētahi atu.
I whakaputaina: (2016)

A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
mā: Pavithra L. Chavali, me ētahi atu.
I whakaputaina: (2016)

Same but different: pleiotropy in centrosome-related microcephaly
mā: O’Neill, Ryan S., me ētahi atu.
I whakaputaina: (2018)

The APC/C targets the Cep152–Cep63 complex at the centrosome to regulate mitotic spindle assembly
mā: Tischer, Thomas, me ētahi atu.
I whakaputaina: (2022)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
mā: Namburi, Prasanthi, me ētahi atu.
I whakaputaina: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
mā: Namburi, Prasanthi, me ētahi atu.
I whakaputaina: (2016)

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
mā: Prasanthi Namburi, me ētahi atu.
I whakaputaina: (2016)

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
mā: Prasanthi Namburi, me ētahi atu.
I whakaputaina: (2016)

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
mā: Duerinckx, Sarah, me ētahi atu.
I whakaputaina: (2019)