about
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndromeDNA methylation, methyltransferases, and cancer.Three novel DNMT3B mutations in Japanese patients with ICF syndrome.The role of genetics in the establishment and maintenance of the epigenome.DNA hypermethylation in Drosophila melanogaster causes irregular chromosome condensation and dysregulation of epigenetic histone modifications.Regulation and function of DNA methylation in plants and animals.Perturbations of chromatin structure in human genetic disease: recent advances.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulationHeterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function.Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.Notl-Msell methylation-sensitive amplied fragment length polymorhism for DNA methylation analysis of human cancers.Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.Does junk DNA regulate gene expression in humans?FISH analysis on spontaneously arising micronuclei in the ICF syndrome.A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves.A simple and efficient method for microdissection and microFISH.Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?Ablation of Dnmt3b in chondrocytes suppresses cell maturation during embryonic development.Epigenetics and Human Disease.DNA Methylation and Adult Neurogenesis.
P2860
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P2860
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
ICF syndrome: a new case and review of the literature.
@en
type
label
ICF syndrome: a new case and review of the literature.
@en
prefLabel
ICF syndrome: a new case and review of the literature.
@en
P2093
P356
P1433
P1476
ICF syndrome: a new case and review of the literature.
@en
P2093
C M Weemaes
D F Smeets
G Vaes-Peeters
J P Niehof
P2888
P304
P356
10.1007/BF00208277
P577
1994-09-01T00:00:00Z
P5875
P6179
1047025218