5 citations
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March 2013 in “BMJ case reports” This case report suggests that Roux-en-Y gastric bypass may improve symptoms of non-classic adrenal hyperplasia related to 11-hydroxylase deficiency by reducing insulin resistance.
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.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
288 citations
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June 2009 in “Human reproduction update” This review examines various methods for assessing hair growth in women, highlighting the usefulness of the mFG visual scoring method for diagnosing hirsutism despite its limitations.
March 2024 in “Journal of drugs in dermatology” This study evaluated the safety and effectiveness of HASHA, a new hyaluronic acid injectable, for chin augmentation in adults with chin retrusion. HASHA significantly improved chin appearance and satisfaction over 12 months compared to controls, with only mild or moderate transient adverse events.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
September 2023 in “Research Square (Research Square)” This study describes the development of a prototype clinical expert system that uses a belief rule-based inference methodology to improve the risk stratification and diagnosis of polycystic ovary syndrome by addressing uncertainties in clinical data and domain knowledge.
November 2014 in “International Society of Hair Restoration Surgery” This announcement explains the Fellow designation for hair restoration surgeons meeting specific educational criteria, without reporting new research findings.
67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
126 citations
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October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” In this cross-sectional study, researchers observed that patients with hidradenitis suppurativa, particularly women, had lower 2D:4D finger length ratios compared to healthy controls, suggesting a potential link to prenatal androgen exposure and disease severity, though further prospective research is needed to confirm this hormonal impact.
1 citations
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April 2022 in “AACE clinical case reports” This case report describes a 36-year-old Pakistani phenotypic female diagnosed with 46,XY 5-alpha-reductase deficiency, highlighting that such disorders of sexual development can manifest with symptoms like obesity, hirsutism, and amenorrhea later in life due to unique circumstances.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
January 2006 in “Dermatologic Surgery” The Core Curriculum for Hair Restoration Surgery aims to improve doctor training for better, safer, and more natural-looking hair loss treatments.
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.
10 citations
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November 2019 in “Journal of the European Academy of Dermatology and Venereology” This study observed distinct differences in hair characteristics between individuals with cardio-facio-cutaneous syndrome and Costello syndrome, highlighting the role of the RAS pathway in these RASopathies and aiding clinical diagnosis.
June 2025 in “Biomolecules” In this study, researchers found that activating RORA in hair follicle stem cells reduced the expression of cytoskeleton-related genes, affecting cell migration and adhesion, which may aid in understanding hair follicle development and potentially inform alopecia treatments.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
10 citations
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September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.
The ProScope HR is an effective, user-friendly, and affordable tool for diagnosing hair loss.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
2 citations
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August 2023 in “Aesthetic Surgery Journal” This study found that dynamic resilient hyaluronic acid fillers were effective and well-tolerated for correcting moderate-to-severe nasolabial folds in people of color, with improvements in wrinkle severity and fewer adverse events compared to non-people of color.
546 citations
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February 2008 in “PLANT PHYSIOLOGY” This study found that overexpression of OsPHR2 in rice leads to increased phosphate accumulation and root architecture changes even under phosphate-sufficient conditions.
March 2008 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found that a positive feedback loop involving RHD2, reactive oxygen species, and calcium ions helps maintain root hair growth sites and influences cell shape in Arabidopsis thaliana.
January 2026 in “International Journal of Women s Health” This study found that a nomogram prediction model based on clinical characteristics, bone metabolism, and ovarian function can effectively predict the treatment response to long-acting GnRHa in girls with idiopathic central precocious puberty.