16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” This study found that selectively targeting HDAC4 and HDAC7 in mice can reduce Th17 cell-mediated intestinal inflammation, suggesting a potential treatment approach for Th17-related inflammatory diseases like ulcerative colitis.
April 2020 in “Journal of the Endocrine Society” This case report highlights Leydig cell hyperplasia as a rare cause of increased testosterone and postmenopausal hirsutism, resolved after bilateral salpingo-oophorectomy in a 64-year-old woman.
65 citations
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October 2015 in “Acta Biomaterialia” This study found that using a pH-sensitive layered double hydroxide nanocarrier to deliver etoposide significantly reduced liver toxicity and enhanced the drug’s effectiveness in targeting and suppressing non-small cell lung cancer.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.
January 2017 in “Dermatology Review” This article discusses skin lesions in chronic graft-versus-host disease and highlights the importance of coordinated care between haematologists and dermatologists for effective management; it presents no new clinical results.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” The authors concluded that increased expression of the HSD11B1 gene in adipose tissue correlates with obesity markers and predicts insulin resistance, but this association is independent of polycystic ovary syndrome when adiposity is controlled for.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” This study found that children with classic congenital adrenal hyperplasia had elevated epicardial fat thickness, which was associated with increased carotid intima media thickness, left ventricular mass, and mitral deceleration time.
May 2024 in “International journal of medicine and psychology.” This study examined monoclonal antibodies LT-1, LT-2, and LT-7, finding they can effectively detect certain antigens on T and B cells involved in various lymphoproliferative diseases, aiding in the diagnosis of both acute and chronic lymphoid neoplasias.
October 2020 in “The American Journal of Gastroenterology” This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.
October 2014 in “Archives of Disease in Childhood” This case study reported that growth hormone therapy dramatically improved rickets symptoms and growth in three children with vitamin-D dependent rickets type 2 who had not responded to standard treatments.
9 citations
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April 2024 in “Cureus” This study outlines the features and diagnosis of Vogt-Koyanagi-Harada disease, highlighting its association with specific genes, its prevalence among pigmented races, and treatment with systemic steroids and immunosuppressants.
3 citations
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June 2024 in “Journal of Neuroendocrinology” This study observed that many women with PCOS had unfavorable lipoprotein profiles, mostly moderate changes in triglycerides, HDL, and LDL cholesterol, with small LDL particles not being rare and potentially aiding risk assessment.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
66 citations
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October 1987 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study found that serum 3 alpha-diol G levels in women with idiopathic hirsutism correlated well with their clinical response to treatment, suggesting its usefulness in evaluating treatment outcomes.
January 2026 in “Contemporary Clinical Dentistry” This case report describes a rare instance of Vogt-Koyanagi-Harada disease in a 21-year-old Asian woman, highlighting unusual oral manifestations such as tooth discoloration and misalignment, which expand the known clinical spectrum of the disorder.
178 citations
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October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
1 citations
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February 2023 in “Frontiers in Endocrinology” This study demonstrates that combining gene expression data with a random forest algorithm provides highly accurate diagnosis of childhood growth hormone deficiency, showing potential utility in distinguishing it from non-GHD short stature.
16 citations
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February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that VDR deficiency in mice leads to various skin pathologies but does not affect the phenotype or function of Langerhans cells.
7 citations
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December 2014 in “Gynecological Endocrinology” This study found that LC-MS/MS is a more reliable method than immunoassays for measuring serum 17OHP and androgen levels in women with hyperandrogenism.
April 2025 in “Journal of Investigative Dermatology” This study found that elevated luteinizing hormone levels were significantly associated with female pattern hair loss, and implicated LH/LHR signaling in the aging and damage of hair follicles.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
61 citations
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March 2009 in “The Journal of the American Board of Family Medicine” This article reviews current diagnostic and treatment approaches for discoid lupus erythematosus, emphasizing the importance of early treatment and photoprotection, but reports no new clinical findings.
January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
1 citations
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September 2020 in “Journal of Dermatological Science” In this study, researchers found that the gene LRRC15 was overexpressed in dermal papilla cells from balding areas compared to non-balding areas in patients with androgenetic alopecia.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.