Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis (Q24318539)

GOA release 2020-03-11

histone ubiquitination

1 reference

GOA release 2020-03-11

1 reference

Dilek Colak

4

0 references

Mustafa A. Salih

object named as

Mustafa A Salih

5

0 references

Fowzan S Alkuraya

6

object named as

Fowzan S Alkuraya

0 references

author name string

Salma Awad

1

0 references

Mohammed S Al-Dosari

2

0 references

Nadya Al-Yacoub

3

0 references

Coralie Poizat

Primary microcephaly: do all roads lead to Rome?

7

0 references

language of work or name

English

0 references

publication date

1 June 2013

0 references

published in

Human Molecular Genetics

0 references

volume

22

0 references

issue

11

0 references

page(s)

2200-13

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Molecular genetic determinants of human brain size

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Mechanisms and pathways of growth failure in primordial dwarfism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Novel CENPJ mutation causes Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

DNA strand break repair and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Polycomb silencers control cell fate, development and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Role of Bmi-1 and Ring1A in H2A ubiquitylation and Hox gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

The Polycomb complex PRC2 and its mark in life

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Role of histone H2A ubiquitination in Polycomb silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Hoxb4 transduction down-regulates Geminin protein, providing hematopoietic stem and progenitor cells with proliferation potential.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Identification of Bmi1-interacting proteins as constituents of a multimeric mammalian polycomb complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Polycomb group gene silencing proteins are concentrated in the perichromatin compartment of the mammalian nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

RAE28, BMI1, and M33 are members of heterogeneous multimeric mammalian Polycomb group complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

A chromatin localization screen reveals poly (ADP ribose)-regulated recruitment of the repressive polycomb and NuRD complexes to sites of DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Polycomb group proteins in the DNA damage response: a link between radiation resistance and "stemness".

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

BRIT1/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

BMI1-mediated histone ubiquitylation promotes DNA double-strand break repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Histone H2A ubiquitination in transcriptional regulation and DNA damage repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Human ASPM participates in spindle organisation, spindle orientation and cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Propagating memory of transcriptional states

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Locking in stable states of gene expression: transcriptional control during Drosophila development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Hox genes in vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Geminin, an inhibitor of DNA replication, is degraded during mitosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Isolation and characterization of retinoic acid-inducible cDNA clones in F9 cells: one of the early inducible clones encodes a novel protein sharing several highly homologous regions with a Drosophila polyhomeotic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Polycomb group gene rae28 is required for sustaining activity of hematopoietic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

A simple technique for quantitation of low levels of DNA damage in individual cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

A rapid and simple method for measuring thymocyte apoptosis by propidium iodide staining and flow cytometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072

Lack of the Polycomb-group gene rae28 causes maturation arrest at the early B-cell developmental stage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT072