(Q35571262)

8 August 2017

1 reference

title

The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease (English)

1 reference

8 August 2017

1 reference

https://api.crossref.org/works/10.1016/S1521-6616(03)00201-8

26 March 2024

author name string

Melanie Ehrlich

series ordinal

1

1 reference

8 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14585272

26 March 2024

publication date

1 October 2003

1 reference

full work available at URL

8 August 2017

https://api.elsevier.com/content/article/PII:S1521661603002018?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S1521-6616(03)00201-8

https://api.elsevier.com/content/article/PII:S1521661603002018?httpAccept=text/plain

26 March 2024

1 reference

https://api.crossref.org/works/10.1016/S1521-6616(03)00201-8

26 March 2024

1 reference

8 August 2017

volume

109

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8 August 2017

issue

1

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8 August 2017

page(s)

17-28

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

8 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Growing Y-junction carbon nanotubes

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

ICF syndrome: a new case and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

ICF syndrome with variable expression in sibs

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

A girl with recurrent infections, low IgM and an abnormal chromosome number 1

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Three novel DNMT3B mutations in Japanese patients with ICF syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Chromosomal localization of human satellites 2 and 3 by a FISH method using oligonucleotides as probes

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNA methyltransferase deficiency modifies cancer susceptibility in mice lacking DNA mismatch repair

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Induction of Tumors in Mice by Genomic Hypomethylation

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNA methylation in cancer: too much, but also too little

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Dnmt3a and Dnmt3b are transcriptional repressors that exhibit unique localization properties to heterochromatin

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Dnmt3b, de novo DNA methyltransferase, interacts with SUMO-1 and Ubc9 through its N-terminal region and is subject to modification by SUMO-1

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Preferential induction of chromosome 1 multibranched figures and whole-arm deletions in a human pro-B cell line treated with 5-azacytidine or 5-azadeoxycytidine

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNA demethylation and pericentromeric rearrangements of chromosome 1.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Hypomethylation of pericentromeric DNA in breast adenocarcinomas

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Stage- and cell-specific expression of Dnmt3a and Dnmt3b during embryogenesis.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNMT1 and DNMT3b cooperate to silence genes in human cancer cells

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Demethylation of repetitive DNA sequences in neuroblastoma

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Abnormal methylation does not prevent X inactivation in ICF patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Arabidopsis cmt3 chromomethylase mutations block non-CG methylation and silencing of an endogenous gene

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Demethylation-induced developmental pleiotropy in Arabidopsis

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Genome-wide profiling of DNA methylation reveals transposon targets of CHROMOMETHYLASE3

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Arabidopsis thaliana DNA methylation mutants

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Robertson's Mutator transposons in A. thaliana are regulated by the chromatin-remodeling gene Decrease in DNA Methylation (DDM1).

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Lsh, a member of the SNF2 family, is required for genome-wide methylation

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Control of CpNpG DNA methylation by the KRYPTONITE histone H3 methyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Lsh, a SNF2 family member, is required for normal murine development

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Dnmt3L and the establishment of maternal genomic imprints.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

RGS molecule expression in murine B lymphocytes and ability to down-regulate chemotaxis to lymphoid chemokines

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Regulator of G protein signaling 1 (RGS1) markedly impairs Gi alpha signaling responses of B lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Mammalian RGS proteins: barbarians at the gate

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

The beta7 integrin gene (Itgb-7) promoter is responsive to TGF-beta1: defining control regions

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

The BCMA gene, preferentially expressed during B lymphoid maturation, is bidirectionally transcribed

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

BCMAp: an integral membrane protein in the Golgi apparatus of human mature B lymphocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

B-cell maturation protein, which binds the tumor necrosis factor family members BAFF and APRIL, is dispensable for humoral immune responses

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

TNF receptor family member BCMA (B cell maturation) associates with TNF receptor-associated factor (TRAF) 1, TRAF2, and TRAF3 and activates NF-kappa B, elk-1, c-Jun N-terminal kinase, and p38 mitogen-activated protein kinase

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Myocyte enhancer factor-related B-MEF2 is developmentally expressed in B cells and regulates the immunoglobulin J chain promoter

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Characterization of myocyte enhancer factor 2 (MEF2) expression in B and T cells: MEF2C is a B cell-restricted transcription factor in lymphocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

B cell-specific activator protein prevents two activator factors from binding to the immunoglobulin J chain promoter until the antigen-driven stages of B cell development

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Impaired immune responses and B-cell proliferation in mice lacking the Id3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Thymocyte selection is regulated by the helix-loop-helix inhibitor protein, Id3.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

RGSZ1, a Gz-selective RGS protein in brain. Structure, membrane association, regulation by Galphaz phosphorylation, and relationship to a Gz gtpase-activating protein subfamily

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Binding of Ikaros to the lambda5 promoter silences transcription through a mechanism that does not require heterochromatin formation

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Positions of potential: nuclear organization and gene expression.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Dynamic repositioning of genes in the nucleus of lymphocytes preparing for cell division

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS1521-6616%2803%2900201-8

7 January 2021

ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review

series ordinal

85

1 reference

https://api.crossref.org/works/10.1016/S1521-6616(03)00201-8

26 March 2024

Identifiers

1 reference

8 August 2017

1 reference