Search Results - "epigenetics"

Epigenetics & Chromatin

Open Access

Clinical Epigenetics

Open Access

Heterochromatin, epigenetics and gene expression

Table of Contents: “…Contents: Heterochromatin as a cytological phenomenon -- Heterochromatin and gene silencing -- Heterochromatin and DNA accessibility -- Histone modification and control of heterochromatin assembly -- Stability of epigenetic silencing by heterochromatin during development -- Heterochromatin and telomere stability.…”
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Series (Epigenetics, chromatin, transcription and cancer)
Series (Molecular genetics of human disease)

Chromatin genes and disease

Table of Contents: “…Contents: Chromatin genes and disease -- Epigenetics: the phenotype reflects the pattern of gene expression -- The role of chromatin in epigenetic regulation -- Epigenetic factors and their role in gene expression -- Human diseases involving epigenetic factors.…”
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Imprinting disorders associated with molecular changes on chromosome 11p15

Table of Contents: “…Contents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD -- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans.…”
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Developmental plasticity the 3rd dimension of phenotypic variation and disease risk /

Table of Contents: “…Contents: Road map for exploring developmental plasticity -- Undetected genetics and unmeasured environments -- Unobserved epigenetics -- Analytical issues -- Variability -- Analysis of variance -- A model for developmental plasticity -- Probabilistic developmental epigenetic model -- Testing the model -- The importance of plasticity.…”
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Colorectal cancer and the rare variant hypothesis

Table of Contents: “…Contents: Cancer: a somatic evolutionary process -- Colorectal cancer: a good model to study -- Two clear cut familial forms: FAP and HNPCC -- Mutation selection balance for dominants and recessives: application to FAP -- APC gene found by positional cloning -- Loss of heterozygosity proved its role in sporadic cancers -- Selection for mutations in the APC "mutation cluster region" -- HNPCC mismatch repair genes found by candidate guess -- Mutated genes in colorectal cancer include p53 and wnt pathway, occur in adenoma to carcinoma sequence -- Arguments for and against need for genomic instability in cancers -- Epigenetic changes -- Mathematical model of normal and cancerous crypt -- Types of familial cancers: mostly rarer than FAP and HNPCC -- Approaches to studying multifactorial inherited susceptibility -- HLA and disease: the model -- Role of linkage disequilbrium -- Principles of SNP association analysis -- Rare missense variants in the APC gene confer susceptibility -- The "rare variant hypothesis" for multifactorial inherited susceptibility: exemplified by study of colorectal adenomas.…”
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