January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
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.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
January 2020 in “International Journal of Research in Pharmacy and Chemistry” This study developed a validated HPLC method for accurately estimating dutasteride and its related compounds in capsules, suitable for routine and stability sample analysis.
10 citations
,
January 2013 in “Stem Cells and Development” This study suggests that dermal stem/progenitor cells can be enriched by intracellular granularity and display high proliferation and differentiation potential in vitro, distinguishing them from other fibroblasts and progenitors.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
October 2023 in “Acta Medica Nicomedia” In this study, hirsutism negatively affected quality of life in Turkish patients, as measured by the Dermatology Life Quality Index, although no significant relationship was observed between the severity of hirsutism and quality of life scores.
January 2026 in “Molecules” This study found that DHA, a derivative of artemisinin, shows potential as a cosmetic ingredient due to its anti-aging, anti-hair loss, antibacterial, whitening, and anti-glycation activities.
December 2024 in “ACS Applied Materials & Interfaces” In this study, dynamic hyaluronic acid hydrogels with properties like injectability and controlled degradation were developed to enhance healing and remodeling of diabetic wounds, achieving effects such as inflammation reduction, increased angiogenesis, and neovascularization, leading to complete wound healing.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
May 2025 in “The Journal of Rheumatology” This case report highlights a rare instance of diffuse alveolar hemorrhage in a patient with catastrophic antiphospholipid syndrome, emphasizing the importance of early recognition and multidisciplinary management.
43 citations
,
August 2010 in “Expert Opinion on Investigational Drugs” This review explores the potential of selective 11β-HSD1 inhibitors to improve insulin sensitivity in type 2 diabetes, emphasizing the need for more clinical research and reports no new clinical results.
2 citations
,
January 2009 in “Human cell culture”
49 citations
,
December 2017 in “Journal of pharmaceutical and biomedical analysis” This study developed and validated a high-resolution mass spectrometry method to screen for prohibited substances and analyze six endogenous steroids in urine according to World Antidoping Agency requirements, demonstrating its effectiveness for antidoping analysis.
4 citations
,
January 2022 in “Australasian Journal of Dermatology” This study found that serum HDAC1 levels are significantly higher in patients with alopecia areata compared to those with acne vulgaris and healthy controls, suggesting potential therapeutic opportunities for HDAC inhibitors.
47 citations
,
February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
7 citations
,
June 1989 in “Steroids” In this study, the synthesis of C-4 and C-6 bridged haptens of 11 alpha-hydroxyprogesterone revealed an unexpected formation of a C-4 substituted product using a 6-bromo derivative, contrary to prior reports.
December 2000 in “Journal of the Royal Society of Medicine” Antiandrogen therapy may help treat hidradenitis suppurativa.
1 citations
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January 2015 in “ADMET and DMPK” This study observed that hyaluronan's transformation into HA·3Ca and its hydrate increases drug absorption by changing its molecular characteristics, influenced by zwitterionic character and acidic pH.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
2 citations
,
January 2014 in “International Journal of Endocrinology” In this study, women with a complete hydatidiform mole had significantly higher pre-evacuation levels of hCG, free testosterone, and DHEA-S compared to controls, which declined after HM evacuation.
September 2021 in “Fertility and sterility” In this study, daily administration of 100mg DHEA for 16 weeks in women with adequate ovarian reserve did not modify metabolic or reproductive variables, apart from increased antral follicular count and anti-Müllerian hormone levels.
1 citations
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June 2003 in “Obstetrical & Gynecological Survey” This new method makes checking for female infertility less painful, less invasive, and doesn't use radiation.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
47 citations
,
August 2000 in “Endocrine Reviews” This review discusses idiopathic hirsutism, potential underlying mechanisms, and various therapeutic approaches without providing new clinical results, and emphasizes the need for further research on well-defined patient groups.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.