(Q28256967)

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A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly

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scholarly article

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A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly (English)

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Autosomal recessive primary microcephaly

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primary microcephaly

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author name string

Asma Gul

1

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Muhammad Jawad Hassan

2

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Sabir Hussain

3

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Syed Irfan Raza

4

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Muhammad Salman Chishti

5

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Wasim Ahmad

6

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language of work or name

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publication date

2006

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Journal of Human Genetics

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51

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760-4

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9

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0017-1

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The kinetochore microtubule minus-end disassembly associated with poleward flux produces a force that can do work

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https://api.crossref.org/works/10.1007%2FS10038-006-0017-1

21 January 2018

Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Primer3 on the WWW for general users and for biologist programmers

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Comprehensive human genetic maps: individual and sex-specific variation in recombination

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Faster sequential genetic linkage computations

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

1 reference

https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Protein-truncating mutations in ASPM cause variable reduction in brain size

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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CPAP is a novel stat5-interacting cofactor that augments stat5-mediated transcriptional activity

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

1 reference

https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

based on heuristic

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ASPM is a major determinant of cerebral cortical size

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Centrosomal P4.1-associated protein is a new member of transcriptional coactivators for nuclear factor-kappaB

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

based on heuristic

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A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Cytoskeletal genes regulating brain size

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Microtubule polymerization dynamics

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https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

1 reference

https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16900296

12 December 2020

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Initial sequencing and analysis of the human genome

1 reference

28 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1038/35057062

Identifiers

10.1007/S10038-006-0017-1

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