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

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Velasco, Guillaume ^a   Walton, Emma L ^a   Sterlin, Delphine ^b   Hédouin, Sabrine ^a   Nitta, Hirohisa ^d   Ito, Yuya ^d   Fouyssac, Fanny ^e   Mégarbané, André ^f   Sasaki, Hiroyuki ^d   Picard, Capucine ^b,c   Francastel, Claire ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c IMAGINE INSTITUTE   (France)

^d KYUSHU UNIVERSITY   (Japan)

^e HÔPITAL D ENFANTS   (France)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

Agammaglobulinemia; Biological markers diagnosis use; Biological markers etiology; DNA; DNA methylation; Gene expression; Genes; Heterochromatin; Satellite; X linked

Indexed keywords

BIOLOGICAL MARKER; CELL PROTEIN; DNA METHYLTRANSFERASE 3B; MAELSTROM PROTEIN; SYNAPTONEMAL COMPLEX CENTRAL ELEMENT PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHROMOSOMAL INSTABILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DNA METHYLATION; EPITHELIUM CELL; FACE MALFORMATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; IMMUNODEFICIENCY CENTROMERIC INSTABILITY AND FACIAL ANOMALY SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; MALE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; YOUNG ADULT;

ANIMALS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; DNA METHYLATION; FEMALE; GENE EXPRESSION PROFILING; GERM CELLS; GERM-LINE MUTATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION;

EID: 84899978054     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-56     Document Type: Article

References (33)

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