Research Topics
| John S ParksSummaryAffiliation: Emory University Country: USA Publications
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Detail Information
Publications
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United StatesJohn S Parks
Division of Pediatric Endocrinology, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
Pediatrics 125:S54-63. 2010....
Heritable disorders of pituitary developmentJ S Parks
Department of Pediatrics, Emory University, Atlanta, Georgia 30322, USA
J Clin Endocrinol Metab 84:4362-70. 1999..Homozygosity for inactivating mutations of HESX1 produces a complex phenotype that resembles septo-optic dysplasia. Much more needs to be learned about the role of HESX1 mutations in other forms of hypopituitarism...
Transcription factors regulating pituitary developmentJ S Parks
Division of Pediatric Endocrinology and Diabetes, Emory University School of Medicine, Atlanta, GA 30322, USA
Growth Horm IGF Res 9:2-8; discussion 8-11. 1999..Mutations in PROP1 or POU1F1, or their mouse homologous, result in severe hypopituitarism as well as morphological abnormalities of the pituitary gland...
Pituitary adenomas: screening for G alpha q mutationsN M Oyesiku
Department of Neurosurgery, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Clin Endocrinol Metab 82:4184-8. 1997..No mutations were detected. We conclude that mutations in these regions of the G alpha q cDNA occur infrequently, if at all, in human pituitary adenomas. Alternative mechanisms underlying pituitary tumorigenesis should be explored...
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasiaR W Pfaffle
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322
Science 257:1118-21. 1992..Thus, a mutation in the POU-specific domain of Pit-1 has a selective effect on a subset of Pit-1 target genes...
Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 geneM R Brown
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA
Horm Res 49:98-102. 1998..Therefore, in cases of CPHD, the possibilities of compound heterozygosity for two different Pit-1 mutations, or homozygosity for mutations in the epigenetic gene, Prop-1, should be considered...
Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 geneA L Rosenbloom
Department of Pediatrics, University of Florida, Children s Medical Services Center, Gainesville 32608, USA
J Clin Endocrinol Metab 84:50-7. 1999..The severity of the hormone deficiency phenotype is compatible with the complete loss of PROP1 activity...
Novel patterns of gene expression in pituitary adenomas identified by complementary deoxyribonucleic acid microarrays and quantitative reverse transcription-polymerase chain reactionC O Evans
Department of Neurosurgery and Laboratory of Molecular Neurosurgery and Biotechnology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Clin Endocrinol Metab 86:3097-107. 2001..The evaluation of candidate genes that emerge from these experiments provides a rational approach to investigate those genes significant in tumorigenesis...
The spectrum of hypopituitarism caused by PROP1 mutationsSushil Mody
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA
Best Pract Res Clin Endocrinol Metab 16:421-31. 2002..The mechanisms responsible for delayed loss of hormone production and the occasional overgrowth of the pituitary represent important areas for future research...
Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 geneH Abdul-Latif
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA
J Pediatr Endocrinol Metab 13:21-8. 2000..The first 102 amino acids of the predicted protein are identical to wild-type GH, but the next 94 amino acids are completely divergent...
Mutations in PROP1 cause familial combined pituitary hormone deficiencyW Wu
Howard Hughes Medical Institute, University of California at San Diego, La Jolla 92093 0648, USA
Nat Genet 18:147-9. 1998..Our results identify a major cause of CPHD in humans and suggest a direct or indirect role for PROP1 in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes...
Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiencyO Fofanova
Endocrinology Research Center, Moscow, Russia
J Clin Endocrinol Metab 83:2601-4. 1998..This provides the first evidence of heterozygosity for two common deletions as a cause of CPHD in Russian children...
