Genetic analysis of adrenal absence: agenesis and aplasia.
The adrenal cortex shares a common embryological heritage with the gonad and kidney: all are derived from components of the urogenital ridge. Adrenocortical specification from this embryonic structure and the ultimate organogenesis of the adrenal gland are directed by the sequential expression of transcriptional regulators, with later development being additionally mediated by endocrine hormones that regulate organ maintenance and tissue differentiation. Recent advancements in the field of human and mouse genetics have accumulated evidence for a host of novel factors involved in these processes, such as the hedgehog signaling network and peptides derived from proopiomelanocortin.
Else
Tobias
T
Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, 5568 MSRBII, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0678, USA.
Hammer
Gary D
GD
D000311:Adrenal Glands / Q000002:abnormalities* / Q000196:embryology; D000309:Adrenal Insufficiency / Q000235:genetics*; D000818:Animals; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology; D005260:Female; D051858:Forkhead Transcription Factors / Q000502:physiology; D005767:Gastrointestinal Diseases / Q000235:genetics; D006059:Gonadal Dysgenesis / Q000235:genetics; D053823:Hedgehog Proteins; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics; D008297:Male; D051379:Mice; D000075062:Pre-B-Cell Leukemia Transcription Factor 1; D011333:Pro-Opiomelanocortin / Q000502:physiology; D011518:Proto-Oncogene Proteins / Q000502:physiology; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics / Q000502:physiology; D018168:Receptors, Retinoic Acid / Q000235:genetics / Q000502:physiology; D012097:Repressor Proteins / Q000235:genetics / Q000502:physiology; D015398:Signal Transduction / Q000502:physiology; D054339:Steroidogenic Factor 1; D013577:Syndrome; D015534:Trans-Activators / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology; D051153:Wnt Proteins / Q000502:physiology
D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C109562:FOXD2 protein, human; D051858:Forkhead Transcription Factors; D053823:Hedgehog Proteins; D018398:Homeodomain Proteins; C539965:NR0B1 protein, human; C539966:Nr0b1 protein, mouse; D000075062:Pre-B-Cell Leukemia Transcription Factor 1; D011518:Proto-Oncogene Proteins; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; C104146:SALL1 protein, human; C491254:Sall1 protein, mouse; D054339:Steroidogenic Factor 1; D015534:Trans-Activators; D014157:Transcription Factors; D051153:Wnt Proteins; C083400:PBX1 protein, human; D011333:Pro-Opiomelanocortin