Genetic syndromes caused by mutations in epigenetic genes.
about
Gene-environment interactions in human health: case studies and strategies for developing new paradigms and research methodologiesEpigenetics: A possible answer to the undeciphered etiopathogenesis and behavior of oral lesionsEpigenetic Alterations in Alzheimer's DiseaseMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesSWI/SNF chromatin remodeling complexes and cancerAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunctionHijacked in cancer: the KMT2 (MLL) family of methyltransferasesDonor splice-site mutation in CUL4B is likely cause of X-linked intellectual disabilityIdentification of HDAC Inhibitors Using a Cell-Based HDAC I/II AssayMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationIdentification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome dataThe first mouse mutants of D14Abb1e (Fam208a) show that it is critical for early development.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Influence of DNMT genotype on global and site specific DNA methylation patterns in neonates and pregnant women.Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseGenetic Determinants of Epigenetic Patterns: Providing Insight into Disease.Genome-Wide Epigenetic Studies in Human Disease: A Primer on -Omic TechnologiesFunctional Interplay of Two Paralogs Encoding SWI/SNF Chromatin-Remodeling Accessory Subunits During Caenorhabditis elegans DevelopmentThe future of epigenetic therapy in solid tumours--lessons from the past.Epigenetics, autism spectrum, and neurodevelopmental disorders.Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.Epigenetic mechanisms in pubertal brain maturation.De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.Mechanisms Regulating Stemness and Differentiation in Embryonal Carcinoma Cells.Epigenetic biomarkers in laboratory diagnostics: emerging approaches and opportunities.Familial syndromes associated with intracranial tumours: a review.Genetics of eating disorders.Impaired one carbon metabolism and DNA methylation in alcohol toxicity.Histone deacetylases and their inhibitors in cancer, neurological diseases and immune disorders.Epigenetic alterations in cancer and personalized cancer treatment.Emerging approaches for histone deacetylase inhibitor drug discovery.Genetic studies in intellectual disability and related disorders.How do tumor cells respond to HDAC inhibition?H3K27 Methylation: A Focal Point of Epigenetic Deregulation in Cancer.Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsThe Mendelian disorders of the epigenetic machinery.Non-Invasive Approaches to Epigenetic-Based Sperm Selection.Specific transcriptional enhancement of inducible nitric oxide synthase by targeted promoter demethylation.
P2860
Q21131232-84352A09-B145-43D6-99A4-207274678E90Q26748531-228BDD48-1ABD-48BF-877B-E97F88E547DCQ26770475-8814BDFF-D99F-4396-B179-F4F478F5A528Q26992084-1307FF05-2F16-4A54-A264-E87F07C84C3AQ26998657-B1A0E52F-CB1B-4C37-B37C-9E5E5F786376Q27003875-F6243CBA-26EB-468F-850B-C36039E617C7Q27006839-D8E72C5D-E38A-4CB5-BF85-C46C1E1444E9Q28241396-99FF65BB-D7D4-4B61-B736-71D86937F99DQ28829359-539D3522-B37C-4E9C-95A2-C48D8FEF994EQ29144895-CF4B9422-EACB-43FE-A3F7-5CFE2096DDC3Q31122545-525E8955-217F-4177-8751-8E991924CE07Q33928438-D943DE7E-EC13-4599-A81C-26D23DCAD0D8Q34522233-A5D2FF91-8DD1-41E5-B578-3AB705A2F1A5Q35009492-976A4C4F-EE4F-499E-B308-4EFF3C1A140FQ35524938-54C23B68-AFFC-42E8-B241-00DF57FF66D7Q35608609-6727E007-0321-4967-978B-DEDEAA018EAFQ36025711-0D8AEC2B-9C64-4184-8CED-E5A69C2586EFQ36446270-A8F1B565-3530-41BC-BF48-10C6AB9D2331Q36677147-6D769271-C690-4BAD-BDA5-D8C8ACBB3674Q37061554-8C332363-917F-40A2-8A1A-955B4C90E7E1Q37249145-0F316F7E-B081-440E-8427-61A0ACE04E9FQ37480675-9F2A046E-BBB7-45FC-8D11-A6428D2BA0B9Q37646801-8D001D79-FBA7-4AF4-A622-202C70E9B3CBQ37693369-7EF93268-5C4C-4962-8D08-4D3444857E5AQ37714726-92868DE3-69AB-4428-B79B-E0FE89C1CD83Q38115622-08490497-8377-4679-A419-C2A54EA607F2Q38160164-70B08478-BC9E-476E-BFE5-57EA36149005Q38160760-7C0AB6CE-83EB-4B58-B8CE-DF542BFE5807Q38187459-C8E81731-4C1C-4B8A-AA25-CC09D1A0A835Q38240733-579B8BB2-EBDF-4A10-AC10-47C6B73D540CQ38319591-6F366F4A-E062-4D52-849B-4885BDB1FECAQ38431356-1DB879B5-C10A-49CD-B25E-543CF99395F8Q38616789-CE19BDCB-F1BB-420C-8922-968F16145690Q38817005-F0260F2A-6A06-478D-949F-748C56D8DBF0Q38906678-9CF0F7F7-84A5-4C11-8C74-65B04B0D73D7Q39127494-D3AD7B13-DEEA-427C-9BC2-FA2C5D196B52Q41907863-F94DBFCD-8DE1-440F-A402-09B05EFDA3BEQ42068481-99AD21BA-134D-41DF-A77C-D1719CD6061FQ42214597-6DA648E4-7628-45EE-9666-4C699835194EQ42813999-E14C3F0C-D467-4C58-B5A2-3C684C5DD2D8
P2860
Genetic syndromes caused by mutations in epigenetic genes.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Genetic syndromes caused by mutations in epigenetic genes.
@en
type
label
Genetic syndromes caused by mutations in epigenetic genes.
@en
prefLabel
Genetic syndromes caused by mutations in epigenetic genes.
@en
P2860
P1433
P1476
Genetic syndromes caused by mutations in epigenetic genes.
@en
P2093
María Berdasco
P2860
P2888
P304
P356
10.1007/S00439-013-1271-X
P577
2013-01-31T00:00:00Z
P6179
1008557657