Research Topics
Species | R SalvatoriSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Publications
Insulin sensitivity and β-cell function in adults with lifetime, untreated isolated growth hormone deficiencyCarla R P Oliveira
Federal University of Sergipe, Aracaju, SE, Brazil
J Clin Endocrinol Metab 97:1013-9. 2012..GH reduces insulin sensitivity (IS), whereas IGF-I increases it. IGF-I seems to be critical for the development of the β-cells, and impaired IS has been reported in GH deficiency (GHD)...
Prognostic value of exercise echocardiography in diabetic patientsJoselina L M Oliveira
Department of Internal Medicine, Cardiology and Endocrinology Division, Federal University of Sergipe, Aracaju, Sergipe, Brazil
Cardiovasc Ultrasound 7:24. 2009..The purpose of this investigation was to evaluate the value of EE in predicting cardiac events in diabetics...
Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor geneR Salvatori
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 84:917-23. 1999..We describe a novel mutation in the GHRHR gene as cause of dwarfism in the largest kindred with familial IGHD described to date...
Adrenal insufficiencyRoberto Salvatori
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
JAMA 294:2481-8. 2005..Important differences exist between primary and secondary AI, and the diagnosis of secondary AI may be challenging. The therapy of AI should be carefully tailored to the requirements of the individual patient...
Pituitary tumorsNestoras Mathioudakis
Roberto Salvatori, MD Johns Hopkins School of Endocrinology and Metabolism, 1830 East Monument Street, Suite 333, Baltimore, MD 21287, USA
Curr Treat Options Neurol 11:287-96. 2009..In the hands of an experienced pituitary neurosurgeon, the prognosis for endocrinologic recovery and visual improvement is good...
Effectiveness of self- or partner-administration of an extended-release aqueous-gel formulation of lanreotide in lanreotide-naïve patients with acromegalyRoberto Salvatori
Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Pituitary 13:115-22. 2010..0001). Self- or partner-administration of lanreotide is generally well tolerated and associated with IGF-1 and GH control in many lanreotide-naïve patients with acromegaly...
GH response to hypoglycemia and clonidine in the GH-releasing hormone resistance syndromeR Salvatori
Division of Endocrinology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
J Endocrinol Invest 29:805-8. 2006..There was a small but significant GH increase during ITT, but not during CL test. These results indicate that a minimal albeit significant GH response to ITT can occur despite complete lack of GHRH-R function...
Growth hormone and IGF-1Roberto Salvatori
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore MD 21287, USA
Rev Endocr Metab Disord 5:15-23. 2004
Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor geneR Salvatori
Division of Endocrinology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Clin Endocrinol (Oxf) 54:681-7. 2001..We searched for mutations in the GHRH-R gene in a family in which two of three siblings were affected by IGHD...
Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ibR Salvatori
Division of Endocrinology, Department of Medicine, Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 86:273-9. 2001..These results demonstrate that missense mutations in the GHRHR gene are a cause of IGHD IB, and that defects in the GHRHR gene may be a more common cause of GH deficiency than previously suspected...
Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor geneRoberto Salvatori
Division of Endocrinology, Department of Medicine and The Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Eur J Endocrinol 147:591-6. 2002..The GH response to physical exercise (PE) in patients lacking GHRHR has never been studied. We hypothesized that subjects lacking functional GHRHR may be a model to study GH response to PE...
Absence of mutations in the growth hormone (GH)-releasing hormone receptor gene in GH-secreting pituitary adenomasR Salvatori
Division of Endocrinology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Clin Endocrinol (Oxf) 54:301-7. 2001....
Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding siteRoberto Salvatori
Division of Endocrinology, and the Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Mol Endocrinol 16:450-8. 2002..These results demonstrate that mutations in the GHRHR are not limited to the coding sequence and that promoter mutations that impair Pit-1 binding can reduce expression of the GHRHR gene...
Detection of a recurring mutation in the human growth hormone-releasing hormone receptor geneRoberto Salvatori
Department of Medicine and The Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Clin Endocrinol (Oxf) 57:77-80. 2002..This mutation was described in two families with different ethnic background residing in two different continents (Europe and North America)...
A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasiaRugia Shohreh
Department of Medicine, Division of Endocrinology, Johns Hopkins University, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 96:2982-6. 2011..We analyzed the GHRHR and measured pituitary size in a consanguineous family with the father and three of the five siblings with IGHD...
A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiencyMauri Carakushansky
Divisions of Pediatric Endocrinology and Endocrinology and The Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Eur J Endocrinol 148:25-30. 2003..We searched for GHRHR mutations in two siblings with IGHD type IB and a history of parental consanguinity...
Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body compositionRossana M C Pereira
Division of Endocrinology, Johns Hopkins University, Baltimore, MD 21287, USA
J Clin Endocrinol Metab 92:2353-7. 2007..Although heterozygous carriers of these mutations appear normal, we hypothesized that heterozygosity for a GHRHR mutation might be associated with a subclinical phenotype...
Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand bindingMaria Alba
Division of Endocrinology and The Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Endocrinol 186:515-21. 2005..These studies demonstrate that abnormal ligand binding is a common mechanism by which naturally occurring missense mutation alter GHRH-R function...
Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosisAlison R Moliterno
Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 101:11444-7. 2004..K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis...
Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor geneManuel H Aguiar-Oliveira
Division of Endocrinology, The Johns Hopkins University School of Medicine, 1830 East Monument Street, Suite 333, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 95:714-21. 2010..The prevalence of heterozygosity did not differ in young and old groups, suggesting no survival advantage or disadvantage. Conclusions: In a selected genetic background, lifelong untreated IGHD does not affect longevity...
A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiencyMaria Alba
Division of Endocrinology, Johns Hopkins University School of Medicine, 1830 East Monument Street 333, Baltimore, Maryland 21287, USA
Endocrinology 145:4134-43. 2004..In conclusion, we demonstrate that ablation of the GHRH gene causes IGHD in mice. The GHRHKO mouse will be the new useful model of IGHD...
Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor geneMaria Alba
Division of Endocrinology, and the Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Clin Endocrinol (Oxf) 60:470-5. 2004....
Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutationJoselina Luzia Menezes Oliveira
Division of Endocrinology, Johns Hopkins University, 1830 East Monument Street, 333, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 91:2093-9. 2006..CONCLUSIONS: In this homogeneous cohort residing in a rural area of Brazil, lifetime, untreated severe IGHD is not associated with evidence of premature atherosclerosis despite unfavorable cardiovascular risk profile...
Partial reversibility of growth hormone (GH) deficiency in the GH-releasing hormone (GHRH) knockout mouse by postnatal treatment with a GHRH analogMaria Alba
Division of Endocrinology and Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, 1830 East Monument Street 333, Baltimore, Maryland 21287, USA
Endocrinology 146:1506-13. 2005....
Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IBAli Mohamadi
Division of Endocrinology, Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 94:2565-70. 2009..Five types of mAchR (M(1)-M(5)) exist. A transgenic mouse in which the function of the M(3) receptor was selectively ablated in the central nervous system has isolated GH deficiency similar to animals with defective GHRH or GHRHR gene...
Adipokine profile and urinary albumin excretion in isolated growth hormone deficiencyCarla R P Oliveira
Division of Endocrinology, The Johns Hopkins University School of Medicine, 1830 East Monument Street, Suite 333, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 95:693-8. 2010..6 (13.8) vs. 8.5 (11.1) microg/min]. Conclusions: Subjects with lifetime untreated IGHD have an adipokine profile with high adiponectin and normal leptin levels that may delay vascular damage and lesions of the renal endothelium...
A single injection of double-stranded adeno-associated viral vector expressing GH normalizes growth in GH-deficient miceAlessia Sagazio
Division of Endocrinology, Department of Medicine, Johns Hopkins University School of Medicine, 1830 East Monument Street 333, Baltimore, Maryland 21287, USA
J Endocrinol 196:79-88. 2008..These data show that normalization of longitudinal growth can be reached in GHD mice using a single injection of a double-stranded adeno-associated virus expressing GH...
Partial rescue of growth failure in growth hormone (GH)-deficient mice by a single injection of a double-stranded adeno-associated viral vector expressing the GH gene driven by a muscle-specific regulatory cassetteMarco Martari
Division of Endocrinology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Hum Gene Ther 20:759-66. 2009..The present study shows that systemic GH delivery to GHD animals is possible via a single intramuscular injection of dsAAV carrying a muscle-specific GH-expressing regulatory cassette...
Once-daily administration of CJC-1295, a long-acting growth hormone-releasing hormone (GHRH) analog, normalizes growth in the GHRH knockout mouseMaria Alba
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Am J Physiol Endocrinol Metab 291:E1290-4. 2006..These findings demonstrate that treatment with once-daily administration of CJC-1295 is able to maintain normal body composition and growth in GHRHKO mice. The same dose is less effective when administered every 48 or 72 h...
Effects of combined long-term treatment with a growth hormone-releasing hormone analogue and a growth hormone secretagogue in the growth hormone-releasing hormone knock out mouseDanilo Fintini
Department of Medicine, Division of Endocrinology, and the Ilyssa Center for Molecular and Cellular Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Neuroendocrinology 82:198-207. 2005..These data demonstrate that in GHRHKO mice, GHRP-2 has a growth-stimulating effect that augments the response induced by JI-38. In addition, the presence of GHRH seems necessary for the stimulation of GH secretion by GHRP-2...
Effects of long-term treatment with growth hormone-releasing peptide-2 in the GHRH knockout mouseMaria Alba
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Am J Physiol Endocrinol Metab 289:E762-7. 2005..These data demonstrate that GHRP-2 failed to reverse the severe GHD caused by lack of GHRH...
Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 geneDanilo Fintini
Division of Endocrinology, Department of Medicine and Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
Horm Res 65:76-82. 2006..Rarely, heterozygous mutations in the gene encoding for HESX-1 gene (HESX-1) may cause autosomal-dominant IGHD, with penetrance that has been shown to be variable in both humans and mice...
Thyroid morphology and function in adults with untreated isolated growth hormone deficiencyMarta Regina Silva Alcântara
Division of Endocrinology, Johns Hopkins University, 1830 East Monument Street, Suite 333, Baltimore, Maryland 21287, USA
J Clin Endocrinol Metab 91:860-4. 2006..Although goiter is frequent in acromegalic patients, the effects of GH deficiency (GHD) are difficult to assess, because hypopituitaric subjects who lack GH often also have a partial or complete deficit of TSH...
Giant somatotrophinoma without acromegalic features: more "quiet" than "silent": case reportAniket Sidhaye
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Neurosurgery 56:E1154; discussion E1154. 2005..In addition to surgery and radiotherapy, somatostatin analogues may play an important role in controlling tumor growth...
Vitamin A deficiency does not influence longitudinal growth in miceAlessia Sagazio
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nutrition 23:483-8. 2007..Accordingly, epidemiologic studies have shown that short children have lower VA intake than do children with normal stature...
Effects of recombinant mouse growth hormone treatment on growth and body composition in GHRH knock out miceMaria Alba
Department of Medicine, Division of Endocrinology, and the Ilyssa Center for Molecular and Cellular Endocrinology, Johns Hopkins University School of Medicine, 1830 East Monument Street #333, Baltimore, MD 21287, USA
Growth Horm IGF Res 15:275-82. 2005..CONCLUSIONS: Our findings indicate that in GHD mice body composition changes are reverted by rmGH and that twice/daily is more effective than daily administration...
Cushing's Syndrome attributable to ectopic secretion of corticotropin in a patient with two neuroendocrine tumorsRoberto Salvatori
Department of Medicine (Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Endocr Pract 12:656-9. 2006....
Influence of estrogen administration on the growth response to growth hormone (GH) in GH-deficient miceDanilo Fintini
Department of Medicine, Division of Endocrinology, Ilyssa Center for Molecular and Cellular Endocrinology, Johns Hopkins University, Baltimore, MD 21287, USA
Exp Biol Med (Maywood) 230:715-20. 2005..These results show that subcutaneous or oral EE does not reduce the growth response to GH in female GHD mice...
Metastatic renal cell carcinoma to the pituitary presenting with hyperprolactinemiaS Basaria
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
J Endocrinol Invest 27:471-4. 2004..Mild-to-moderate degree of hyperprolactinemia is a rare presentation of pituitary metastases. We report the case of a woman with metastatic RCC to the pituitary presenting an unusually high degree of hyperprolactinemia...
Recurrence of hyperprolactinemia after withdrawal of long-term cabergoline therapyJ Kharlip
Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, Maryland 21201, USA
J Clin Endocrinol Metab 94:2428-36. 2009..Recurrence of hyperprolactinemia after cabergoline withdrawal ranges widely from 36 to 80%. The Pituitary Society recommends withdrawal of cabergoline in selected patients...
GH, but not GHRH, plays a role in the development of experimental autoimmune encephalomyelitisRugia Shohreh
Division of Endocrinology, Department of Medicine, The Johns Hopkins University, Baltimore, Maryland 21287, USA
Endocrinology 152:3803-10. 2011..GH treatment was also associated with a markedly increase in spleen size and T-cell proliferation specific to myelin oligodendrocyte glycoprotein peptide. GH (but not GHRH) plays an important role in the development of EAE...
Adult-onset growth hormone deficiency: causes, complications and treatment optionsNestoras Mathioudakis
Division of Endocrinology and Metabolism, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 USA
Curr Opin Endocrinol Diabetes Obes 15:352-8. 2008..Description of the progresses related to the complications and treatment of adult-onset growth hormone deficiency...
Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor GeneMaria Alba
Department of Medicine, Division of Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Vitam Horm 69:209-20. 2004..Magnetic resonance imaging shows hypoplasia of the anterior pituitary. In this chapter, we describe the GHRHR mutations reported to date and the phenotype of affected individuals...
Clinical management of growth hormone therapy in adultsRoberto Salvatori
Division of Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, USA
Manag Care 18:10-6. 2009..When used in an approved and ethical fashion for the defined population, this treatment can enhance the health and well-being of the many patients who suffer from the complications of GHD...
Metabolic effects of growth hormone (GH) replacement in children and adolescents with severe isolated GH deficiency due to a GHRH receptor mutationHelena Gleeson
Christie Hospital, Department of Endocrinology, Manchester, UK
Clin Endocrinol (Oxf) 66:466-74. 2007..The interpretation of the true effect of GH replacement therapy (GHRT) on metabolic status in GH deficiency (GHD) is often complicated by differing aetiologies of GHD and by the presence of additional hormone deficits...
[Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil]Anita Hermínia O Souza
Servico de Endocrinologia, Hospital Universitario, Universidade Federal de Sergipe, Aracaju, SE
Arq Bras Endocrinol Metabol 48:406-13. 2004....
Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor geneHelio A Oliveira
Endocrinology and Radiology Divisions, Federal University of Sergipe, Aracaju, SE 49060 100, Brazil
Eur J Endocrinol 148:427-32. 2003..We tested if APH was present in a large cohort of patients homozygous and heterozygous for a GHRHR mutation...
Congenital growth hormone (GH) deficiency and atherosclerosis: effects of GH replacement in GH-naive adultsJoselina L M Oliveira
Department of Endocrinology, Federal University of Sergipe, Aracaju, SE Brazil 49060 100
J Clin Endocrinol Metab 92:4664-70. 2007..GH deficiency (GHD) in adults is associated with increased abdominal adiposity and systolic blood pressure, total and low-density lipoprotein cholesterol, and C-reactive protein...
Familial isolated growth hormone deficiency is associated with increased systolic blood pressure, central obesity, and dyslipidemiaJosé Augusto Soares Barreto-Filho
Endocrinology Division of the Federal University of Sergipe, 49060 100 Aracaju, Brazil
J Clin Endocrinol Metab 87:2018-23. 2002..In conclusion, this genetically homogeneous isolated GHD population presents a syndrome characterized by central obesity, dyslipidemia, and elevated SBP but reduced cardiac dimensions compared with controls...
Climacteric in untreated isolated growth hormone deficiencyMenilson Menezes
Division of Endocrinology, Federal University of Sergipe, Aracaju, Sergipe, Brasil
Menopause 15:743-7. 2008..To study the time, intensity of symptoms, hormonal profile, and related morbidity of climacteric in women with untreated isolated growth hormone (GH) deficiency (IGHD)...
Research Grants
- Molecular analysis of GHRH receptor missense mutationsRoberto Salvatori; Fiscal Year: 2004..Altogether, these experiments will teach us new information about the pathophysiology of GHRHR signaling in health and disease. ..
- Consequences of generalized lack of GHRHRoberto Salvatori; Fiscal Year: 2005..By recombinase technique, we will generate KO lines with no Neor, avoiding any interference with distant or neighboring genes. In addition, results obtained in the GHRHKO1 line will be confirmed or disproved. ..
- Consequences of lifetime isolated Growth Hormone deficiencyRoberto Salvatori; Fiscal Year: 2007....
- Creation of a mouse model of isolated GH deficiencyRoberto Salvatori; Fiscal Year: 2007..In addition, it will mimic the clinical scenario that occurs in most children with IGHD, and it will be an important tool to study the effects of therapies aimed to increase the secretion of endogenous GH. ..
