IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).
|
27734333 |
2016 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
BEFREE |
Collectively, our results show specific methylome and transcriptome defects in both ICF1-iPSCs and differentiated somatic cell lineages, providing a valuable stem cell system for further in vitro study of the molecular pathogenesis of ICF1 syndrome.GEO accession number: GSE46030.
|
25027325 |
2014 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
BEFREE |
While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases.
|
23486536 |
2013 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.
|
21120685 |
2011 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
CTD_human |
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.
|
18029387 |
2008 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
CTD_human |
DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1.
|
18762900 |
2008 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
CTD_human |
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
|
17893117 |
2008 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
MGD |
Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.
|
16501171 |
2006 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
|
15580563 |
2005 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
CTD_human |
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.
|
15952214 |
2005 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
|
15580563 |
2005 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
CTD_human |
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.
|
15580563 |
2005 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases.
|
11919202 |
2002 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
|
11102980 |
2000 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Genetic variation in ICF syndrome: evidence for genetic heterogeneity.
|
11102980 |
2000 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
|
10647011 |
1999 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
|
10588719 |
1999 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
Biomarker
|
disease |
MGD |
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
|
10555141 |
1999 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
|
10647011 |
1999 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
|
10555141 |
1999 |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
|
10647011 |
1999 |
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Lsh/HELLS is critical for normal development and mutations of Lsh in human cause the ICF (Immune deficiency, Centromeric instability, Facial anomalies) syndrome, a severe immune disorder with multiple organ deficiencies.
|
30861354 |
2019 |
Immunologic Deficiency Syndromes
|
0.450 |
Biomarker
|
group |
CTD_human |
Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.
|
17908720 |
2007 |
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Mutations in the DNMT3B DNA methyltransferase gene cause the ICF immunodeficiency syndrome.
|
12900541 |
2002 |
Immunologic Deficiency Syndromes
|
0.450 |
GeneticVariation
|
group |
BEFREE |
Mutation in the DNMT3B DNA methyltransferase gene is a common cause of ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) immunodeficiency syndrome and leads to hypomethylation of satellites 2 and 3 in pericentric heterochromatin.
|
11702227 |
2001 |