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  • epigenetic reprogr
  • Although induced pluripotent stem cells (iPSCs) provide invaluable models of human disease, nuclear reprogramming could limit the usefulness of iPSCs from patients who have AS and PWS should the genomic imprint marks be disturbed by the epigenetic reprogramming process. (fpwr.org)
  • neurodevelopmental
  • Current psychiatric research into the development of the disorder is often based on a neurodevelopmental model (proponents of which see schizophrenia as a syndrome. (wikipedia.org)
  • developmental
  • ASD includes Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS). (pubmedcentralcanada.ca)
  • DMRs are implicated in a number of different diseases including various cancers, osteoarthritis and osteoporosis, Beckwith-Wiedemann syndrome (a developmental disorder), and lupus (an autoimmune disease). (wikipedia.org)
  • These were primarily in regions coding for transcription factors that are involved in cell differentiation and skeletal formation, suggesting there may be a developmental predisposition for these disorders. (wikipedia.org)
  • MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. (wikipedia.org)
  • chromosomes
  • Through hypermethylation, imprinting or specific turning of the corresponding alleles on the opposing homologous chromosomes takes place. (lecturio.com)
  • While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. (wikipedia.org)
  • etiology
  • A larger proportion of cases of mental retardation is related to environmental conditions and disorders of unknown etiology. (nih.gov)
  • biochemical
  • Jirtle has contributed to the better understanding of these human conditions by identifying novel imprinted genes, either by biochemical analysis of individual genes or by genome-wide studies that used machine learning-based approaches to predict candidate imprinted genes, followed by biochemical examination of these candidates. (wikipedia.org)
  • disease
  • Walter J, Paulsen M. Imprinting and disease. (springer.com)
  • Examples of this type of disorder are Albinism, Medium-chain acyl-CoA dehydrogenase deficiency, cystic fibrosis, sickle-cell disease, Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome. (wikipedia.org)
  • In one study the risk of bipolar disorder, particularly for early-onset disease, is J-shaped, with the lowest risk for children of 20- to 24-year-old fathers, a twofold risk for younger fathers, and a threefold risk for fathers >50 years old. (wikipedia.org)
  • Many types of interactions involve both the nervous and immune systems including the physiological functioning of the two systems in health and disease, malfunction of either and or both systems that leads to disorders, and the physical, chemical, and environmental stressors that affect the two systems on a daily basis. (wikipedia.org)
  • Mitochondrial Disorders
  • The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. (wiley.com)