March 2013 in “Journal of pediatric nursing” This case report presents a 14-year-old girl with type A insulin resistance, illustrating diagnostic processes to differentiate it from type 2 diabetes in the context of pediatric obesity and hyperglycemia.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
January 2022 in “IntechOpen eBooks” This review examines lesser-known factors contributing to polycystic ovarian syndrome and reports no new clinical results, emphasizing the need for further research into individualized treatment and prevention strategies.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
11 citations
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July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” This review discusses the role of oestrogens in stimulating linear bone growth and pubertal changes in both boys and girls, highlighting their influence on the growth hormone-insulin-like growth factor axis; it reports no new clinical results.
18 citations
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February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
99 citations
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December 2010 in “Journal of The European Academy of Dermatology and Venereology” This article discusses the association of acne with various systemic diseases, emphasizing the role of androgen steroids, insulin resistance, and inflammation in acne pathogenesis, but it reports no new clinical results.
48 citations
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January 2003 in “Fertility and Sterility” In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.
10 citations
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October 2014 in “Journal of Ovarian Research” This study found a significant association between the IRS-2 gene variant and an increased risk of PCOS, especially in non-obese women in the Chinese population from Taiwan.
June 2023 in “Medical records-international medical journal” This study observed that IGF-1R expression significantly decreased in basal keratinocytes of sacrococcygeal pilonidal sinus tissues, suggesting a potential role in its etiology, although further data are needed to evaluate its treatment implications.
62 citations
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August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
12 citations
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October 2004 in “Experimental Gerontology” This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it reports no new clinical results.
11 citations
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July 2016 in “Endocrinology” This study found that higher Lnk expression in PCOS patients may contribute to insulin resistance by inhibiting insulin signaling pathways.
11 citations
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July 2015 in “Gene” This study found that dihydrotestosterone (DHT) suppresses prostaglandin E2 and TGF-β induced IGF-I gene promoter activity in osteoblasts, suggesting complex interactions among bone growth regulators and potential complications from anabolic steroid use.
9 citations
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March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
9 citations
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November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
October 2023 in “Frontiers in endocrinology” This review examines the role of androgens and androgen receptors in regulating glucose and lipid metabolism, focusing on their effects on mitochondrial content and function; it also discusses the sex-dimorphic influence of androgens and provides theoretical insights into their mechanisms.
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
119 citations
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November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
25 citations
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August 2006 in “Human Reproduction” This study found that the GGC repeat length significantly influenced testosterone levels in oral contraceptive users from high-risk breast cancer families, and homozygosity for short alleles may be linked to increased breast cancer risk.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
70 citations
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March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” This study discusses the potential of targeting 11β-HSD1 for treating metabolic syndrome and highlights emerging promising data from human trials on selective 11β-HSD1 inhibitors.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
13 citations
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February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” In this study, researchers observed that the absence of the vitamin D receptor or its ligand-activated transcription in mice did not affect glucose homeostasis or gene expression in islets.
18 citations
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July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
6 citations
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January 2021 in “International Journal of Molecular Sciences” This study suggests that finasteride treatment in male rats can lead to changes in liver carbohydrate metabolism and may result in metabolic disruptions and liver steatosis in their offspring.
research Acne
2 citations
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May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.