Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network (Q39231616)

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scientific article published on 25 October 2016

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English	Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network	scientific article published on 25 October 2016

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 September 2017

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network (English)

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Europe PubMed Central

PubMed publication ID

10 September 2017

oral-facial-digital syndrome

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based on heuristic

inferred from title

Mark O'Driscoll

object named as

Mark O'Driscoll

10

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Brunella Franco

object named as

Brunella Franco

9

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Christel Thauvin-Robinet

7

object named as

Christel Thauvin-Robinet

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Europe PubMed Central

PubMed publication ID

10 September 2017

author name string

Iga Abramowicz

1

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Europe PubMed Central

PubMed publication ID

10 September 2017

Gillian Carpenter

2

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Europe PubMed Central

PubMed publication ID

10 September 2017

Mariaevelina Alfieri

3

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Europe PubMed Central

PubMed publication ID

10 September 2017

Rita Colnaghi

4

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Europe PubMed Central

PubMed publication ID

10 September 2017

Emily Outwin

5

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Europe PubMed Central

PubMed publication ID

10 September 2017

Philippe Parent

6

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Europe PubMed Central

PubMed publication ID

10 September 2017

Daniela Iaconis

8

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Europe PubMed Central

PubMed publication ID

10 September 2017

publication date

25 October 2016

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Europe PubMed Central

PubMed publication ID

10 September 2017

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

10 September 2017

26

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10 September 2017

1

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10 September 2017

19-32

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Europe PubMed Central

PubMed publication ID

10 September 2017

The molecular basis of oral-facial-digital syndrome, type 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Tetrahymena basal bodies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Identification of the gene for oral-facial-digital type I syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Coiled coils: a highly versatile protein folding motif

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Ofd1 is required in limb bud patterning and endochondral bone development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Ofd1, a human disease gene, regulates the length and distal structure of centrioles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Functional interaction between autophagy and ciliogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

The diverse functions of histone acetyltransferase complexes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Histone H3 methylation links DNA damage detection to activation of the tumour suppressor Tip60.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Histone acetylation by Trrap-Tip60 modulates loading of repair proteins and repair of DNA double-strand breaks

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Acetylation limits 53BP1 association with damaged chromatin to promote homologous recombination

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Tip60 in DNA damage response and growth control: many tricks in one HAT.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Tip60: connecting chromatin to DNA damage signaling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Binding of chromatin-modifying activities to phosphorylated histone H2A at DNA damage sites

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

RVB1/RVB2: running rings around molecular biology

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

RVBs are required for assembling a functional TIP60 complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Push back to respond better: regulatory inhibition of the DNA double-strand break response

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

DNA damage-dependent acetylation and ubiquitination of H2AX enhances chromatin dynamics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Tip60 acetylates six lysines of a specific class in core histones in vitro

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Sir2p and Sas2p opposingly regulate acetylation of yeast histone H4 lysine16 and spreading of heterochromatin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Chromosomal gradient of histone acetylation established by Sas2p and Sir2p functions as a shield against gene silencing

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

The diverse superfamily of lysine acetyltransferases and their roles in leukemia and other diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

MOF and histone H4 acetylation at lysine 16 are critical for DNA damage response and double-strand break repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

MOF and H4 K16 acetylation play important roles in DNA damage repair by modulating recruitment of DNA damage repair protein Mdc1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

MOF phosphorylation by ATM regulates 53BP1-mediated double-strand break repair pathway choice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

53BP1-dependent robust localized KAP-1 phosphorylation is essential for heterochromatic DNA double-strand break repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Histone H2A.Z controls a critical chromatin remodeling step required for DNA double-strand break repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Histone chaperone Anp32e removes H2A.Z from DNA double-strand breaks and promotes nucleosome reorganization and DNA repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Removal of H2A.Z by INO80 promotes homologous recombination

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Histone H4-K16 acetylation controls chromatin structure and protein interactions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Chromatin relaxation in response to DNA double-strand breaks is modulated by a novel ATM- and KAP-1 dependent pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

The p400 ATPase regulates nucleosome stability and chromatin ubiquitination during DNA repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

A selective requirement for 53BP1 in the biological response to genomic instability induced by Brca1 deficiency

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

53BP1 inhibits homologous recombination in Brca1-deficient cells by blocking resection of DNA breaks

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

BRCA1-associated exclusion of 53BP1 from DNA damage sites underlies temporal control of DNA repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Playing the end game: DNA double-strand break repair pathway choice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Homologous recombination in cancer development, treatment and development of drug resistance.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Ciliogenesis and the DNA damage response: a stressful relationship

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

ATR promotes cilia signalling: links to developmental impacts

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Are renal ciliopathies (replication) stressed out?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Diseases associated with defective responses to DNA damage

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Congenital microcephaly

1 reference

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21 January 2018

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

The ATM protein kinase: regulating the cellular response to genotoxic stress, and more

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

1 reference

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21 January 2018

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

1 reference

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21 January 2018

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

1 reference

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21 January 2018

Loss of acetylation at Lys16 and trimethylation at Lys20 of histone H4 is a common hallmark of human cancer

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

The impact of a negligent G2/M checkpoint on genomic instability and cancer induction.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Chromosome breakage after G2 checkpoint release

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Cell-cycle control and cortical development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Requirement for DNA ligase IV during embryonic neuronal development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Tip60 is a haplo-insufficient tumour suppressor required for an oncogene-induced DNA damage response

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW364

21 January 2018

Identifiers

10.1093/HMG/DDW364

1 reference

Europe PubMed Central

PubMed publication ID

10 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 September 2017

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