From developmental biology to dysmorphology
نویسندگان
چکیده
منابع مشابه
The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.
Information obtained from studies of developmental and cellular processes in lower organisms is beginning to make significant contributions to the understanding of the pathogenesis of human birth defects, and it is now becoming possible to treat birth defects as inborn errors of development. Mutations in genes for transcription factors, receptors, cell adhesion molecules, intercellular junction...
متن کاملThe Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
The brief history of the Smith-Lemli-Opitz syndrome (SLOS) (MIM 270400) reflects that of latter 20th century dysmorphology and biochemical and molecular genetics: from its first description as a rare but characteristic multiple malformation syndrome known only to a handful of dysmorphologists, to a relatively common Garrodian defect with a complex molecular basis that has captured the attention...
متن کاملFrom Developmental Biology to Cardiac Regeneration
Cardiomyocyte death is associated with diverse forms of heart disease, which is the leading cause of morbidity and mortality in industrialized countries. Myocardial infarctions are a major public health problem and affect >1 million Americans yearly. A tremendous loss of cardiomyocytes through apoptosis and necrosis underlies both acute and chronic myocardial infarction. To compensate for the d...
متن کاملMolecular approaches to dysmorphology.
The biochemical and physiological defects underlying human dysmorphic syndromes can now be approached using techniques of molecular biology. The genetic component of the causation of the dysmorphology can be studied in isolation from the environmental component by using large, rare families which exhibit the same phenotype as more complex multifactorial disorders, but inherit the mutation in a ...
متن کاملMolecular Approaches to Developmental Biology
mechanisms of DNA repair, replication, and recombination (the "three R's") in both prokaryotes and eukaryotes. The book opens with a 13-page summary of the conference written by Nicholas Cozzarelli. Cozzarelli's expertise is evident as he discusses many of the exciting observations and comments upon their significance and possible implications. His summary is especially useful since it helps co...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2000
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200534