RT Book, Section
A1 Alkuraya, Fowzan S.
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102707623
T1 Epigenetics and Clinical Medicine
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessmedicine.mhmedical.com/content.aspx?aid=1102707623
RD 2024/04/19
AB Epigenetics  refers  to  heritable  mechanisms  that  influence  the  activity  of  DNA  but  do  not  include  the  DNA  sequence  itself.Despite  being  a  relatively  young  field,  epigenetics  has  provided  critical  insights  into  gene  regulation  and  addressed  important  gaps  in  our  understanding  of  how  static  DNA  sequence  is  normally  interpreted  in  a  dynamic  fashion,  both  temporally  and  spatially.Imprinting  disorders  and  cancer  are  examples  of  germline  and  somatic  epigenetic  disorders,  respectively.  In  addition,  there  is  a  growing  appreciation  of  epigenetic  consequences  of  a  number  of  “single”  gene  disorders  such  as  fragile-X  syndrome,  Immunodeficiency,  centromeric  instability  and  facial  anomalies  (ICF),  and  Rett  syndrome.The  demonstration  that  the  epigenetic  signature  of  a  given  cell  can  be  completely  reversed  to  the  level  of  pluripotency  is  the  ultimate  proof  of  the  plasticity  of  the  epigenome  and  its  candidacy  for  therapeutic  intervention  to  treat  epigenetic  disorders  and  make  inroads  in  regenerative  medicine.