(Q36036561)

11 August 2017

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function (English)

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11 August 2017

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11

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11 August 2017

4

Gudrun Nürnberg

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Hans Christian Hennies

8

object named as

Hans Christian Hennies

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Muhammad Sajid Hussain

object named as

Muhammad Sajid Hussain

1

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Peter Nürnberg

14

object named as

Peter Nürnberg

1 reference

11 August 2017

10

Janine Altmüller

1 reference

11 August 2017

2

Shahid Mahmood Baig

1 reference

11 August 2017

12

Holger Thiele

1 reference

11 August 2017

Sascha Neumann

3

1 reference

11 August 2017

Muhammad Farooq

5

1 reference

11 August 2017

Ilyas Ahmad

6

1 reference

11 August 2017

Thomas Alef

7

1 reference

11 August 2017

Martin Technau

9

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11 August 2017

Angelika Anna Noegel

13

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11 August 2017

language of work or name

English

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publication date

19 April 2012

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American Journal of Human Genetics

11 August 2017

1 reference

11 August 2017

90

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11 August 2017

5

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11 August 2017

871-878

1 reference

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Cutting the nonsense: the degradation of PTC-containing mRNAs

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

WDR62 is associated with the spindle pole and is mutated in human microcephaly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

2 October 2017

Building the centriole

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

MCPH1/BRIT1 limits ionizing radiation-induced centrosome amplification.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

CDK5RAP2 regulates centriole engagement and cohesion in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Many roads lead to primary autosomal recessive microcephaly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Primary microcephaly: do all roads lead to Rome?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

The Sequence Alignment/Map format and SAMtools

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Walking the interactome for prioritization of candidate disease genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Bld10p constitutes the cartwheel-spoke tip and stabilizes the 9-fold symmetry of the centriole

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Plk4-induced centriole biogenesis in human cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Gene prioritization through genomic data fusion

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Bld10p, a novel protein essential for basal body assembly in Chlamydomonas: localization to the cartwheel, the first ninefold symmetrical structure appearing during assembly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Interaction of Cep135 with a p50 dynactin subunit in mammalian centrosomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Proteomic characterization of the human centrosome by protein correlation profiling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

ASPM is a major determinant of cerebral cortical size

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Identification of microcephalin, a protein implicated in determining the size of the human brain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Characterization of Cep135, a novel coiled-coil centrosomal protein involved in microtubule organization in mammalian cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Rat monoclonal antitubulin antibodies derived by using a new nonsecreting rat cell line

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3376485

10.1016/J.AJHG.2012.03.016

11 July 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

1 reference