Research Topics
Genomes and Genes | Perrin WhiteSummaryAffiliation: University of Texas Southwestern Medical Center Country: USA Publications
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Publications
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthoodPerrin C White
Division of Endocrinology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
Semin Reprod Med 30:400-9. 2012..Transition of care of older patients to adult physicians should be planned in advance as a structured, ongoing process...
Steroid 11 beta-hydroxylase deficiency and related disordersP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Endocrinol Metab Clin North Am 30:61-79, vi. 2001..Recombinations between these two genes cause glucocorticoid suppressible hyperaldosteronism, an autosomal dominant form of hypertension...
Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based samplePerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 9063, USA
J Clin Endocrinol Metab 90:5880-3. 2005....
Hexose 6-phosphate dehydrogenase (H6PD) and corticosteroid metabolismPerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390 9063, USA
Mol Cell Endocrinol 265:89-92. 2007..However, these polymorphisms do not have detectable biochemical or physiologic effects when prospectively ascertained...
Ontogeny of adrenal steroid biosynthesis: why girls will be girlsPerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
J Clin Invest 116:872-4. 2006..Thus normal sexual differentiation requires exquisite timing of fetal cortisol and androgen secretion versus placental capacity for aromatization...
Aldosterone synthase deficiency and related disordersPerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9063, USA
Mol Cell Endocrinol 217:81-7. 2004..An additional form of familial hyperreninemic hypoaldosteronism has been described that is not due to mutations in CYP11B2, but its etiology remains to be elucidated...
Physiological roles of 11 beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenasePerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
Curr Opin Pediatr 20:453-7. 2008..This paper reviews the functional role(s) of 11 beta-hydroxysteroid dehydrogenase type 1 and examines factors influencing its activity...
Aldosterone: direct effects on and production by the heartPerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9063, USA
J Clin Endocrinol Metab 88:2376-83. 2003
Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase to hypertension in Black peopleP C White
Department of Pediatrics, University of Texas South Western Medical Center, Dallas, TX 75235 9063, USA
Clin Endocrinol (Oxf) 55:249-52. 2001..This gene is thus a logical candidate locus for risk of essential hypertension...
Neonatal screening for congenital adrenal hyperplasiaPerrin C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390 9063, USA
Nat Rev Endocrinol 5:490-8. 2009....
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excessP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, 75390 9063, USA
Am J Med Sci 322:308-15. 2001..This suggests that the biochemical and clinical phenotype of AME is largely determined by genotype...
Sitagliptin treatment of patients with type 2 diabetes does not affect CD4+ T-cell activationPerrin C White
Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390 9063, USA
J Diabetes Complications 24:209-13. 2010..Randomized studies, preferably using several assays of immune function, should be performed to confirm and extend these findings...
Screening for type 2 diabetes in obese youthShuchi Shah
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
Pediatrics 124:573-9. 2009..To assess available blood tests as potential screening tools for impaired glucose tolerance (IGT) and type 2 diabetes mellitus (T2DM)...
Depression and diabetes in children and adolescentsSunita M Stewart
Department of Psychiatry, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA
Curr Opin Pediatr 17:626-31. 2005....
Insulin-like growth factor-I and fibroblast growth factor, but not growth hormone, affect growth plate chondrocyte proliferationMichele R Hutchison
Division of Pediatric Endocrinology, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 9063, USA
Endocrinology 148:3122-30. 2007..These results suggest that the major regulator of chondrocyte proliferation is systemic IGF-I; FGFs may influence the actions of IGF-I at the growth plate by altering its receptor number in chondrocytes...
SCF, BDNF, and Gas6 are regulators of growth plate chondrocyte proliferation and differentiationMichele R Hutchison
Division of Pediatric Endocrinology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
Mol Endocrinol 24:193-203. 2010..IGF-I appears to be the primary proliferative signal in growth plate chondrocytes, whereas multiple factors including SCF, BDNF, and Gas6 regulate the pace of differentiation at the growth plate...
Somatic items in the assessment of depressive symptoms in pediatric patients with diabetesSunita M Stewart
Department of Psychiatry, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75390 8589, USA
J Behav Med 34:112-9. 2011..These findings were not moderated by level of depressive symptoms. Our study suggests that the somatic items on the CES-D do not confound the measurement of depressive symptoms in young people with type 1 diabetes...
Institution of basal-bolus therapy at diagnosis for children with type 1 diabetes mellitusSoumya Adhikari
Division of Pediatric Endocrinology, Department of Dietary Behavior, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390 9063, USA
Pediatrics 123:e673-8. 2009..We studied whether the institution of basal-bolus therapy immediately after diagnosis improved glycemic control in the first year after diagnosis for children with newly diagnosed type 1 diabetes mellitus...
Depressive symptoms predict hospitalization for adolescents with type 1 diabetes mellitusSunita M Stewart
Department of Psychiatry, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390 8589, USA
Pediatrics 115:1315-9. 2005..To examine the role of self-reported depressive symptoms in predicting hospitalization for complications of diabetes mellitus over a period of up to 2 years...
Abnormalities of glucose homeostasis and the hypothalamic-pituitary-adrenal axis in mice lacking hexose-6-phosphate dehydrogenaseDaniela Rogoff
University of Texas Southwestern Medical Center, 5223 Harry Hines Boulevard, Dallas, TX 75390 9063, USA
Endocrinology 148:5072-80. 2007..Comparison with other animal models of adrenal insufficiency suggests that many of the observed abnormalities can be explained by blunted intracellular corticosterone actions, despite elevated circulating levels of this hormone...
Hexose-6-phosphate dehydrogenase knock-out mice lack 11 beta-hydroxysteroid dehydrogenase type 1-mediated glucocorticoid generationGareth G Lavery
Department of Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
J Biol Chem 281:6546-51. 2006....
The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone productionMary H Bassett
Division of Reproductive Endocrinology, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9032, USA
Mol Endocrinol 18:279-90. 2004..Our results suggest that NGFIB and NURR1 are key regulators of hCYP11B2 expression and may partially mediate the regulation of hCYP11B2 by Ang II...
Expression profiles for steroidogenic enzymes in adrenocortical diseaseMary H Bassett
Divisions of Reproductive and Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9032, USA
J Clin Endocrinol Metab 90:5446-55. 2005....
Improved glycemic control in adolescents with type 1 diabetes mellitus who attend diabetes campYu Chi A Wang
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Pediatr Diabetes 9:29-34. 2008..Although patients' knowledge and self-management of diabetes may improve after camp, improved glycated hemoglobin A1c (HbA1c) levels have not been consistently demonstrated...
The regulation of aldosterone synthase expressionMary H Bassett
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75235-9032, USA
Mol Cell Endocrinol 217:67-74. 2004..Both potassium and angiotensin II (ANG II) increase intracellular calcium levels, which regulate expression of CYP11B2 through transcription factors that interact with defined sites in the 5'-flanking region of the gene...
Congenital adrenal hyperplasiaPhyllis W Speiser
Department of Pediatrics, Schneider Children's Hospital-North Shore-Long Island Jewish Health System, New Hyde Park, NY 11042, USA
N Engl J Med 349:776-88. 2003
Long-term consequences of childhood-onset congenital adrenal hyperplasiaPerrin C White
Division of Pediatric Endocrinology and Professor of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA
Best Pract Res Clin Endocrinol Metab 16:273-88. 2002..This chapter addresses issues relating to long-term consequences in adult life of CAH-21OHD diagnosed in early childhood or adolescence...
Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitusEric I Felner
Department of Pediatrics, Division of Endocrinology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Pediatr Diabetes 6:213-20. 2005..Combining the age of onset of T1DM with specific genotypes may operate to produce a single disease through different underlying causes...
Contribution of hexose-6-phosphate dehydrogenase to NADPH content and redox environment in the endoplasmic reticulumDaniela Rogoff
Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390 9063, USA
Redox Rep 15:64-70. 2010..Thus, H6PD may have additional functions in muscle...
Stimulated growth hormone concentrations in obese pediatric patients with mild and severe insulin resistance: a pilot studyJill A Radack
Division of Pediatric Endocrinology, The University of Texas Southwestern Medical Center, Dallas, Texas, USA
J Pediatr Endocrinol Metab 23:355-61. 2010..GH excess predisposes to insulin resistance (IR). Obese patients have blunted responses to GH stimulation and decreased spontaneous secretion. GH secretion has not been studied in the context of IR.ŗŗ..
Gene expression in peripheral blood mononuclear cells from children with diabetesEllen C Kaizer
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
J Clin Endocrinol Metab 92:3705-11. 2007....
Presentation of primary adrenal insufficiency in childhoodSusan Hsieh
Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 9063, USA u
J Clin Endocrinol Metab 96:E925-8. 2011..Primary adrenal insufficiency is usually diagnosed in infancy or adulthood, and cases presenting in childhood have not been systematically reviewed...
A role for the NGFI-B family in adrenal zonation and adrenocortical diseaseMary H Bassett
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology University of Texas Southwestern Medical Center, Dallas, Texas 75390-9073, USA
Endocr Res 30:567-74. 2004..Taken together these results suggest that the NGFI-B family of transcription factors plays a role in establishing the functional zonation of the human adrenal by regulating CYP11B2 and HSD3B2 gene transcription...
The endocrinologist's approach to the intersex patientPerrin C White
Division of Pediatric Endocrinology, UT Southwestern Medical Center, Dallas, Texas, USA
Adv Exp Med Biol 511:107-19; discussion 119-20. 2002
Elevated expression of luteinizing hormone receptor in aldosterone-producing adenomasKarla Saner-Amigh
Department of Physiology, Medical College of Georgia, 1120 15th Street, Augusta, Georgia 30912, USA
J Clin Endocrinol Metab 91:1136-42. 2006..Aberrant adrenal expression of LH receptors has been shown to cause Cushing's syndrome, but the role of LH receptors in Conn's disease (hyperaldosteronism) has not been studied...
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiencyNicole Draper
Division of Medical Sciences, University of Birmingham, Queen Elizabeth Hospital, Edgbaston, Birmingham B15 2TH, UK
Nat Genet 34:434-9. 2003..CRD defines a new ER-specific redox potential and establishes H6PDH as a potential factor in the pathogenesis of PCOS...
Association of Lys173Arg polymorphism with CYP11B2 expression in normal adrenal glands and aldosterone-producing adenomasHiromichi Tanahashi
Department of Diabetes and Endocrinology, Room 2S15, Gifu University, 1-1 Yanagido, Gifu 501-1194, Japan
J Clin Endocrinol Metab 90:6226-31. 2005..CONCLUSIONS: A CYP11B2 haplotype including -344T and K173 is associated with higher gene expression than the -344C/R173 haplotype, supporting reported associations of -344T with higher aldosterone production and blood pressure...
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1Iwona J Bujalska
Division of Medical Sciences, Endocrinology, Institute of Biomedical Research, Medical School, University of Birmingham, Birmingham, B15 2TT, UK
J Mol Endocrinol 34:675-84. 2005..In conclusion, H6PDH is a crucial determinant of 11 beta-HSD1 oxo-reductase activity in intact cells. Through its interaction with 11 beta-HSD1, H6PDH may represent a novel target in the pathogenesis and treatment of obesity...
Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2Mako Isaji
Department of Diabetes and Endocrinology, Gifu University School of Medicine, Yanagido, Gifu, Japan
J Hypertens 23:1149-57. 2005..However, the association of polymorphisms in the aldosterone synthase gene (CYP11B2) with hypertension or cardiac hypertrophy remains controversial...
Role of local 11 beta-hydroxysteroid dehydrogenase type 2 expression in determining the phenotype of adrenal adenomasTomoatsu Mune
Third Department of Internal Medicine, Gifu University School of Medicine, Gifu 500 8705, Japan
J Clin Endocrinol Metab 88:864-70. 2003..Nonfunctioning adenomas and those causing preclinical and overt Cushing's syndrome may represent a continuum with clinical manifestations depending mainly on tumor size and HSD11B2 expression levels...
Role of local 11beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) expression in determining the phenotype of adrenal adenomasTomoatsu Mune
Third Department of Internal Medicine, Gifu University School of Medicine, Gifu 500-8705, Japan
Endocr Res 28:751-2. 2002
Deletion of hexose-6-phosphate dehydrogenase activates the unfolded protein response pathway and induces skeletal myopathyGareth G Lavery
Division of Medical Sciences, University of Birmingham, Edgbaston, Birmingham, UK
J Biol Chem 283:8453-61. 2008..These studies thus define a novel metabolic pathway that links ER stress to skeletal muscle integrity and function...
Editorial: polymorphisms in CYP11B genes and 11-hydroxylase activityPerrin C White
J Clin Endocrinol Metab 90:1252-5. 2005
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundlesJoann McGee
Developmental Auditory Physiology Laboratory, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
J Neurosci 26:6543-53. 2006..Our results indicate that Vlgr1 is required for formation of the ankle link complex and the normal development of cochlear hair bundles...
The accuracy of the Guardian RT continuous glucose monitor in children with type 1 diabetesMichael Tansey
Diabetes Technol Ther 10:266-72. 2008..The Guardian RT has an accuracy similar to that of other available continuous glucose monitors and can give important and useful clinical information...
Research Grants
- Functions of Very Large G-protein Coupled Receptor-1Perrin White; Fiscal Year: 2007..We are specifically interested in the other proteins with very large ectodomains, protocadherin- 15 and cadherin-23. These studies should shed new light on mechanisms controlling development of the retina and inner ear. ..
- Biochemical Basis of Cortisone Reductase DeficiencyPerrin White; Fiscal Year: 2007..Subsets of the genotyping data will be analyzed as an association study, as an affected sib pair study, and by transmission disequilibrium testing. Additional polymorphisms in these genes will be sought in PCOS subjects. ..
- REGULATION OF HUMAN ALDOSTERONE SYNTHASEPerrin White; Fiscal Year: 2002..These studies should provide insight into mechanisms underlying a genetic risk factor for cardiovascular disease. ..
- MOLECULAR GENETICS OF LOW RENIN HYPERTENSIONPerrin White; Fiscal Year: 2001..The investigators will determine the role of 11-HSD K in the development of essential hypertension, using both linkage and association studies. ..
