A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family (Q40258844)

18 September 2017

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family (English)

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18 September 2017

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Gudrun Nürnberg

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18 September 2017

Muhammad Sajid Hussain

object named as

Muhammad Sajid Hussain

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Peter Nürnberg

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object named as

Peter Nürnberg

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18 September 2017

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Janine Altmüller

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18 September 2017

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Shahid Mahmood Baig

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18 September 2017

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Holger Thiele

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18 September 2017

Sandra Szczepanski

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18 September 2017

Ilknur Sur

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18 September 2017

Uzma Abdullah

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18 September 2017

Syeda Seema Waseem

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18 September 2017

Abubakar Moawia

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18 September 2017

Angelika Anna Noegel

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18 September 2017

30 November 2015

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18 September 2017

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18 September 2017

135

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2

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18 September 2017

157-170

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https://scigraph.springernature.com/pub.10.1007/s00439-015-1619-5

18 September 2017

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cites work

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

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https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Phosphorylation and rapid relocalization of 53BP1 to nuclear foci upon DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

DNA breaks and chromosome pulverization from errors in mitosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Predictive identification of exonic splicing enhancers in human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Molecular mechanisms of micronucleus, nucleoplasmic bridge and nuclear bud formation in mammalian and human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Many roads lead to primary autosomal recessive microcephaly

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

The many substrates and functions of ATM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Cerebral organoids model human brain development and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

H2AX phosphorylation within the G1 phase after UV irradiation depends on nucleotide excision repair and not DNA double-strand breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

The MIS12 complex is a protein interaction hub for outer kinetochore assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Modular assembly of RWD domains on the Mis12 complex underlies outer kinetochore organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Evolution of primary microcephaly genes and the enlargement of primate brains

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Genetic heterogeneity in Pakistani microcephaly families.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

p53 binding protein 1 (53BP1) is an early participant in the cellular response to DNA double-strand breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Selective small-molecule inhibitor reveals critical mitotic functions of human CDK1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Human Zwint-1 specifies localization of Zeste White 10 to kinetochores and is essential for mitotic checkpoint signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1619-5

Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26621532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26621532

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-015-1619-5

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Dimensions Publication ID

18 September 2017

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