Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report [PDF]
BMC Endocrine Disorders, 2023 Background Human growth hormone (hGH) plays a crucial role in growth by binding to growth hormone receptor (GHR) in target cells. Binding of GH molecules to their cognate receptors triggers downstream signaling pathways leading to the transcription of ...
Fatemeh Bitarafan +7 more
doaj +3 more sources
Effects of GHR Deficiency and Juvenile Hypoglycemia on Immune Cells of a Porcine Model for Laron Syndrome [PDF]
Biomolecules, 2023 Laron syndrome (LS) is a rare genetic disorder characterized by low levels of insulin-like growth factor 1 (IGF1) and high levels of growth hormone (GH) due to mutations in the growth hormone receptor gene (GHR). A GHR-knockout (GHR-KO) pig was developed
Marie-Christin Schilloks +6 more
doaj +3 more sources
Toward gene therapy of Laron syndrome. [PDF]
Gene Ther, 2022 The growth hormone (GH)-insulin-like growth factor-1 (IGF1) endocrine axis has a fundamental role in growth and development throughout life [1–3]. As originally postulated by Salmon and Daughaday in the mid-1950s, most of the biological actions of GH are
Werner H.
europepmc +4 more sources
Laron syndrome in three female siblings with the development of subclinical hypothyroidism and dyslipidemia in one case: first report of a Syrian family. [PDF]
Oxford Medical Case Reports, 2021 Laron syndrome (LS) is a rare autosomal recessive disorder characterized by dwarfism and typical facial phenotype. This report is the first to present three cases of Laron syndrome affecting three female siblings from Syria.
Leen Jamel Doya
exaly +3 more sources
Laron syndrome: An experience of treatment of two cases
Journal of Clinical and Translational Endocrinology Case Reports, 2021 Laron syndrome or growth hormone insensitivity is a rare disease presenting with severe postnatal growth failure. Clinically, in most circumstances, it is indistinguishable from growth hormone deficiency.
Hiya Boro +4 more
doaj +4 more sources
The Laron Syndrome Mouse Model Reveals a Potential Contribution of Methylglyoxal-Derived Glycative Stress to IGF-1-Driven Prostate Cancer Progression [PDF]
BiologyIndividuals with Laron syndrome, a rare condition characterized by congenital insulin-like growth factor 1 (IGF-1) deficiency, display a remarkably low incidence of cancer, suggesting the existence of protective mechanisms linking reduced IGF-1 signaling
Dominga Manfredelli +7 more
doaj +3 more sources
Bezmiâlem Science, 2019 Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum GH ...
İlker Tolga ÖZGEN +3 more
doaj +4 more sources
Clinical features and endocrine profile of Laron syndrome in Indian children
Indian Journal of Endocrinology and Metabolism, 2014 Introduction: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India.
Supriya R Phanse-Gupte +2 more
doaj +3 more sources
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome [PDF]
Frontiers in Endocrinology, 2021 PurposeLaron syndrome (LS) is a severe growth disorder caused by GHR gene mutation or post-receptor pathways defect. The clinical features of these patients collected in our present study were summarized, GHR gene variants were investigated and further ...
Ran Li +10 more
doaj +3 more sources
Fanconi Anemia and Laron Syndrome [PDF]
American Journal of the Medical Sciences, 2017 Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH.
Jesús Ortiz-Urbina +2 more
exaly +5 more sources