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020 _a9789811389580
024 7 _a10.1007/978-981-13-8958-0
_2doi
040 _aES-MaUEC
_bspa
_cES-MaUEC
_dES-MaUEC
050 4 _aRB155
_b2019 EB
245 0 0 _aClinical Epigenetics
_cedited by Luke B. Hesson, Antonia L. Pritchard.
250 _a1st ed. 2019.
264 1 _aSingapore
_bSpringer International Publishing
_c2019
300 _a1 recurso en línea (XI, 265 páginas)
_b34 ilustraciones, 8 ilustraciones
336 _2rdacontent
_aTexto
_btxt
337 _2rdamedia
_aelectrónico
_bc
338 _2rdacarrier
_arecurso electrónico
_bcr
347 _atext file
_bPDF
_2rda
490 0 _aBiomedical and Life Sciences (Springer-11642)
505 0 _aGenetics and epigenetics: a Historical Overview -- The DNA methylation machinery -- Methylcytosine and its oxidised derivatives -- The role of nucleosomes in epigenetic gene regulation -- Circular RNAs in human health and disease -- The role of histone variants in cancer -- DNA methylation and carcinogenesis: Current and future perspectives -- Dysregulation of cis-regulatory elements in cancer -- Germline epigenetic testing of imprinting disorders in a diagnostic setting -- Cancer methylation biomarkers in circulating cell-free DNA -- The clinical utility of epigenetics.
520 3 _aIn genetic pathology, epigenetic testing is rare and under utilised. In this book, we introduce epigenetics to a non-expert scientific audience and describe current and future clinical utility of epigenetic testing. By focussing on epigenetics in human disease this book will guide professionals (scientists and clinicians) to understand how epigenetics is relevant in a clinical context, and to implement epigenetic testing in diagnostic laboratories. The book begins with a historical perspective of genetics and epigenetics and describes the work of pioneers who have helped shape these fields. The various mechanisms by which epigenetics can regulate the function of the genome is described. These include DNA methylation, histone modifications, histone variants, nucleosome positioning, cis-regulatory elements, non-coding RNAs and the three-dimensional organisation of chromatin in the nucleus. These are discussed in the context of embryological development, cancer and imprinting disorders, and include examples of epigenetic changes that can be used in diagnosis, prediction of therapeutic response, prognostication or disease monitoring. Finally, for those wishing to implement epigenetic testing in a diagnostic setting, the book includes a case study that illustrates the clinical utility of epigenetic testing.
650 7 _2embne
_aGenética médica
_9144879
700 1 _aHesson, Luke B
_eeditor
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPritchard, Antonia L
_eeditor
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
776 0 8 _iPrinted edition:
_z9789811389573
776 0 8 _iPrinted edition:
_z9789811389597
776 0 8 _iPrinted edition:
_z9789811389603
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-981-13-8958-0
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942 _2lcc
_cLE
998 _aSI
_cm
_dz
_feng
_ggw
_h0
_b01/2020
_ek
_zSI