Growth Hormone Genetics
Mostrando 1-12 de 14 artigos, teses e dissertações.
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1. Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study
ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrosp
Sao Paulo Med. J.. Publicado em: 2021-05
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2. Análise dos genes GHRH e GL12 em pacientes com deficiência de hormônio do crescimento congênita / GHRH and GLI2 genes analysis in patients with congenital growth hormone deficiency
Introduction: Alterations in genes related to GH secretion and pituitary organogenesis have been identified in patients with congenital GH deficiency (GHD). However, in only few cases of GHD the etiology has been established. GH-releasing hormone (GHRH) is an obvious candidate to explain isolated GH deficiency (IGHD). Previous reports in the literature did n
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 14/02/2012
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3. Pesquisa de mutações no gene do receptor do secretagogo de hormônio de crescimento (GHSR) em crianças com baixa estatura idiopática e deficiência isolada de hormônio de crescimento / Growth hormone secretatogue receptor gene (GHSR) analysis in patients with idiopathic short stature (ISS) and patients with isolated growth hormone deficiency
A ghrelina, hormônio secretado principalmente por células gástricas, liga-se ao seu receptor, o receptor de secretagogo de GH (GHSR - Growth hormone secretagogue receptor), localizado no hipotálamo e na hipófise, estimulando a síntese e secreção do GH. Recentemente foram identificadas mutações no gene GHSR em crianças com baixa estatura idiopátic
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 10/10/2011
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4. Análise do gene AIP na acromegalia familial isolada / Analysis of the AIP gene in familial isolated acromegaly
Acromegaly is a rare disfigurating and insidious disease characterized by enlargement of hands, feet and skull bones due to excess of growth hormone (GH) secreted by a pituitary tumor (somatotropinoma). The majority of the cases with acromegaly is sporadic, however it may occur in association with inherited disorders as Multiple Endocrine Neoplasia type 1 (M
Publicado em: 2010
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5. Papel da via lkaros-FGFR4 na evolução pós-cirúrgica dos pacientes com doença de Cushing / Ikaros-FGFR4 pathway: role in the postoperative outcome of Cushings disease
Introduction: The mechanisms involved in the molecular pathogenesis of corticotroph pituitary tumors are complex, heterogeneous and in most cases remain unknown. Changes in the expression of components of Ikaros (Ik) pathway, such as receptor 4 of fibroblast growth factor (FGFR4), have been detected in pituitary tumors including corticotropinomas. Imbalance
Publicado em: 2010
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6. Análise do transcritoma de etiquetas de sequências expressas da hipófise e parte do cérebro do tambaqui (Colossoma macropomum) e expressão do cDNA do hormônio de crescimento em Pichia pastoris
The tambaqui, Colossoma macropomum, is a fish of great commercial value to the Amazon region and represents an emblematic species taking into account the studies carried out on its biology, physiology and genetics. Due to its importance, the aim of this study was to construct and characterize a cDNA library of mixed parts of the hypophysis and the brain in o
Publicado em: 2009
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7. Avaliação clínico-laboratorial de pacientes com síndrome de Kabuki / Clinical and laboratorial evaluation of patients with Kabuki syndrome
INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to
Publicado em: 2009
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8. Study of the PTPN11 gene in Noonan syndrome patients and children with idiopathic short stature / "Estudo do gene PTPN11 em pacientes com a síndrome de Noonan e crianças com baixa estatura idiopática"
Noonan syndrome (NS), characterized by short stature, dysmorphic facial and thoracic features and congenital heart disease, was associated to PTPN11 gene. We studied the PTPN11 in patients with NS, parents of mutation-positive NS patients and idiopathic short stature children with signs related to NS without fulfilling the diagnostic criteria. We found misse
Publicado em: 2005
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9. Development of a quantitative competitive reverse transcriptase polymerase chain reaction for the quantification of growth hormone gene expression in pigs
After the advent of the genome projects, followed by the discovery of DNA polymorphisms, basic understanding of gene expression is the next focus to explain the association between polymorphisms and the level of gene expression, as well as to demonstrate the interaction among genes. Among the various techniques for the investigation of transcriptional profil
Genetics and Molecular Biology. Publicado em: 2003
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10. Medical genetics: advances in brief: Molecular analysis of X linked agammaglobulinemia with growth hormone deficiency
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11. Medical genetics: advances in brief: Six-year results of a randomised prospective trial of human growth hormone and oxandrolone in Turner syndrome
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12. NEW EMBO MEMBER’S REVIEW: Yeast vacuoles and membrane fusion pathways
Selective membrane fusion underlies subcellular compartmentation, cell growth, neurotransmission and hormone secretion. Its fundamental mechanisms are conserved among organelles, tissues and organisms. As befits a conserved process, reductionism led to its study in microorganisms. Homotypic fusion of the vacuole of Saccharomyces cerevisiae is particularly ac
Oxford University Press.