(Q35902743)

11 August 2017

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome (English)

1 reference

immunodeficiency-centromeric instability-facial anomalies syndrome

11 August 2017

0 references

corrigendum / erratum

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

0 references

18

Capucine Picard

0 references

Claire Francastel

Claire Francastel

27

0 references

Silvère M van der Maarel

Silvère M van der Maarel

28

0 references

Yu Sun

Yu Sun

10

0 references

Motoko Unoki

Motoko Unoki

7

0 references

Paolo Picco

Paolo Picco

14

0 references

Andrew R Gennery

13

Andrew Gennery

1 reference

11 August 2017

17

Ismail Reisli

1 reference

11 August 2017

Peter E Thijssen

1

1 reference

11 August 2017

Yuya Ito

2

1 reference

11 August 2017

Giacomo Grillo

3

1 reference

11 August 2017

Jun Wang

4

1 reference

11 August 2017

Guillaume Velasco

5

1 reference

11 August 2017

Hirohisa Nitta

6

1 reference

11 August 2017

Minako Yoshihara

8

1 reference

11 August 2017

Mikita Suyama

9

1 reference

11 August 2017

Richard J L F Lemmers

11

1 reference

11 August 2017

Jessica C de Greef

12

1 reference

11 August 2017

Barbara Kloeckener-Gruissem

15

1 reference

11 August 2017

Tayfun Güngör

16

1 reference

11 August 2017

Kamila Kebaili

19

1 reference

11 August 2017

Bertrand Roquelaure

20

1 reference

11 August 2017

Tsuyako Iwai

21

1 reference

11 August 2017

Ikuko Kondo

22

1 reference

11 August 2017

Takeo Kubota

23

1 reference

11 August 2017

Monique M van Ostaijen-Ten Dam

24

1 reference

11 August 2017

Maarten J D van Tol

25

1 reference

11 August 2017

Corry Weemaes

26

1 reference

11 August 2017

Hiroyuki Sasaki

29

1 reference

11 August 2017

language of work or name

English

0 references

publication date

28 July 2015

1 reference

11 August 2017

Nature Communications

1 reference

11 August 2017

6

1 reference

11 August 2017

7870

1 reference

https://scigraph.springernature.com/pub.10.1038/ncomms8870

11 August 2017

0 references

cites work

The ATP binding site of the chromatin remodeling homolog Lsh is required for nucleosome density and de novo DNA methylation at repeat sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Ontogeny of CpG island methylation and specificity of DNMT3 methyltransferases during embryonic development in the mouse

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Identification of Cdca7 as a novel Notch transcriptional target involved in hematopoietic stem cell emergence.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Genome-wide DNA methylation patterns in LSH mutant reveals de-repression of repeat elements and redundant epigenetic silencing pathways

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

The MYC-associated protein CDCA7 is phosphorylated by AKT to regulate MYC-dependent apoptosis and transformation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

POK/ZBTB proteins: an emerging family of proteins that regulate lymphoid development and function

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Transcription factor E2F-associated phosphoprotein (EAPP), RAM2/CDCA7L/JPO2 (R1), and simian virus 40 promoter factor 1 (Sp1) cooperatively regulate glucocorticoid activation of monoamine oxidase B.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Fast and accurate long-read alignment with Burrows-Wheeler transform

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Lsh is involved in de novo methylation of DNA

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Lsh, an SNF2/helicase family member, is required for proliferation of mature T lymphocytes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4519989

Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26216346

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26216346

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26216346

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS8870

1 reference

11 August 2017

0 references

1 reference

11 August 2017

1 reference