Emily L Germain-Lee

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. ncbi request reprint Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Park Building, Suite 211, 600 N Wolfe Street, Baltimore, 21287 2520, MD, USA
    Biochem Biophys Res Commun 296:67-72. 2002
  2. ncbi request reprint Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance
    Emily L Germain-Lee
    Department of Pediatrics, Division of Endocrinology and the Ilyssa Center for Molecular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 88:4059-69. 2003
  3. ncbi request reprint Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Pediatr Endocrinol Rev 3:318-27. 2006
  4. ncbi request reprint A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Park Building, Suite 211, 600 North Wolfe Street, Baltimore, Maryland 21287 2520, USA
    Endocrinology 146:4697-709. 2005
  5. pmc Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy
    David L Huso
    Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 6:e21755. 2011
  6. ncbi request reprint Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity
    Dominique N Long
    Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 92:1073-9. 2007
  7. pmc Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells
    Janet L Crane
    Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Clin Transl Sci 2:355-60. 2009
  8. pmc Bone mineral density in pseudohypoparathyroidism type 1a
    Dominique N Long
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 95:4465-75. 2010
  9. ncbi request reprint Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency
    Stephanie C Hsu
    Department of Pediatric Endocrinology, Johns Hopkins University, 733 North Broadway, Suite 551, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 92:3941-8. 2007
  10. pmc Potential biomarker of metformin action
    Ling He
    Division of MetabolismDivision of EndocrinologyDepartments of Pediatrics, Physiology and Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USAKennedy Krieger InstituteBaltimore, Maryland 21287, USA
    J Endocrinol 221:363-9. 2014

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Park Building, Suite 211, 600 N Wolfe Street, Baltimore, 21287 2520, MD, USA
    Biochem Biophys Res Commun 296:67-72. 2002
    ..9-40.4%. Expression of NESP55, XLalpha(s), and 1A was uniallelic. We conclude that Galpha(s) is incompletely imprinted in the thyroid, which provides an explanation for mild TSH resistance in PHP type 1a...
  2. ncbi request reprint Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance
    Emily L Germain-Lee
    Department of Pediatrics, Division of Endocrinology and the Ilyssa Center for Molecular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 88:4059-69. 2003
    ..Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO. We propose that GH status be evaluated in all patients with PHP type 1a...
  3. ncbi request reprint Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Pediatr Endocrinol Rev 3:318-27. 2006
    ....
  4. ncbi request reprint A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene
    Emily L Germain-Lee
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Park Building, Suite 211, 600 North Wolfe Street, Baltimore, Maryland 21287 2520, USA
    Endocrinology 146:4697-709. 2005
    ..These findings confirm the tissue-specific paternal imprinting of GNAS and demonstrate that Galphas deficiency alone is sufficient to account for the hormone resistance of pseudohypoparathyroidism type 1a...
  5. pmc Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy
    David L Huso
    Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
    PLoS ONE 6:e21755. 2011
    ..Moreover, these mice provide a model with which to investigate the regulatory mechanisms of bone formation...
  6. ncbi request reprint Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity
    Dominique N Long
    Division of Pediatric Endocrinology, Department of Pediatrics, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, Maryland 21287, USA
    J Clin Endocrinol Metab 92:1073-9. 2007
    ..Classically, the obesity in AHO is described as occurring similarly in both conditions...
  7. pmc Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells
    Janet L Crane
    Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Clin Transl Sci 2:355-60. 2009
    ..By contrast, imprinting of Galpha(s) most likely occurs after 11 weeks postfertilization and after tissue differentiation...
  8. pmc Bone mineral density in pseudohypoparathyroidism type 1a
    Dominique N Long
    Division of Pediatric Endocrinology, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 95:4465-75. 2010
    ..Some studies have shown that bone is responsive to PTH, suggesting that PHP1a patients with chronically elevated PTH levels may have low bone mineral density (BMD)...
  9. ncbi request reprint Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency
    Stephanie C Hsu
    Department of Pediatric Endocrinology, Johns Hopkins University, 733 North Broadway, Suite 551, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 92:3941-8. 2007
    ..The mechanism by which these mutations lead to the AHO phenotype has been difficult to establish due to the inaccessibility of the affected tissues...
  10. pmc Potential biomarker of metformin action
    Ling He
    Division of MetabolismDivision of EndocrinologyDepartments of Pediatrics, Physiology and Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USAKennedy Krieger InstituteBaltimore, Maryland 21287, USA
    J Endocrinol 221:363-9. 2014
    ..These data suggests that CBP phosphorylation in WBCs may be used as a biomarker of metformin action in the liver. ..
  11. pmc Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy
    Andrew W Joseph
    Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Department ofPediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Clin Endocrinol Metab 96:2065-73. 2011
    ..Carpal tunnel syndrome (CTS) is a chief complaint in many patients with AHO...
  12. doi request reprint Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse
    Antonius Plagge
    Physiological Laboratory, School of Biomedical Sciences, University of Liverpool, Crown Street, Liverpool L69 3BX, UK
    J Endocrinol 196:193-214. 2008
    ....
  13. ncbi request reprint Calcium kinetics are altered in clinically stable girls with cystic fibrosis
    Kerry J Schulze
    Center for Human Nutrition, The Johns Hopkins University Bloomberg School of Public Health, 615 North Wolfe Street, Baltimore, MD 21205, USA
    J Clin Endocrinol Metab 89:3385-91. 2004
    ..Rates of bone Ca deposition were lower than typically reported in healthy children, as were indirect markers of bone formation. These alterations in bone turnover contribute to reduced bone mass in girls with CF...
  14. ncbi request reprint Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis
    Kerry J Schulze
    Center for Human Nutrition, The Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland 21205, USA
    J Pediatr 143:765-71. 2003
    ..Actual calcium balance [absorbed calcium-(urinary calcium (V(u))+V(endo))] was compared with estimated balance (assuming V(endo)=1.6 mg/kg/day calcium) by paired t test...
  15. ncbi request reprint Efficiency of calcium absorption is not compromised in clinically stable prepubertal and pubertal girls with cystic fibrosis
    Kerry J Schulze
    Center of Human Nutrition, The Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD 21205, USA
    Am J Clin Nutr 78:110-6. 2003
    ..Reduced bone mass is common in both children and adults with cystic fibrosis (CF) and may be a consequence of inadequate calcium absorption. The effect of CF on intestinal calcium absorption and retention has not been described in children...