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

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

Wedi'i Gadw mewn:

Manylion Llyfryddiaeth
Prif Awduron:	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
Fformat:	Artigo
Iaith:	Saesneg
Cyhoeddwyd:	2012
Mynediad Ar-lein:	https://doi.org/10.1016/j.ajhg.2012.03.016
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
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CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
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An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
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CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly
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Abnormal centrosomal structure and duplication in Cep135-deficient vertebrate cells
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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ
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CEP135 isoform dysregulation promotes centrosome amplification in breast cancer cells
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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
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Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
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Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4
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Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
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Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly
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Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
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Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction
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The Centriolar Protein Bld10/Cep135 Is Required to Establish Centrosome Asymmetry in Drosophila Neuroblasts
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CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
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CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination
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Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells
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Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
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Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells
gan: Toshiro Ohta, et al.
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
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Selective Chemical Crosslinking Reveals a Cep57-Cep63-Cep152 Centrosomal Complex
gan: Gražvydas Lukinavičius, et al.
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PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
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Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
gan: Alawbathani, Salem, et al.
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Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
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Cep192 Controls the Balance of Centrosome and Non-Centrosomal Microtubules during Interphase
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Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
gan: Prosser, Suzanna L., et al.
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Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites
gan: Suzanna L. Prosser, et al.
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Autophagy controls centrosome number by degrading Cep63
gan: Watanabe, Yuichiro, et al.
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Cep44 functions in centrosome cohesion by stabilizing rootletin
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A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
gan: Chavali, Pavithra L., et al.
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A CEP215–HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancer
gan: Pavithra L. Chavali, et al.
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Same but different: pleiotropy in centrosome-related microcephaly
gan: O’Neill, Ryan S., et al.
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The APC/C targets the Cep152–Cep63 complex at the centrosome to regulate mitotic spindle assembly
gan: Tischer, Thomas, et al.
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Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
gan: Namburi, Prasanthi, et al.
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Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
gan: Namburi, Prasanthi, et al.
Cyhoeddwyd: (2016)

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

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
gan: Prasanthi Namburi, et al.
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Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways
gan: Duerinckx, Sarah, et al.
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