7 citations
,
January 2007 in “PubMed” This review discusses the use of videodermoscopy in evaluating scalp and hair disorders, highlighting its potential to improve diagnostic accuracy without the need for invasive biopsies, but notes that further prospective studies are needed.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
This study found that a modified scaffold with VEGF165 genetically modified hair follicle stem cells significantly promoted blood vessel growth and wound healing in rats, suggesting its potential as a skin substitute in clinical settings.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
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.
30 citations
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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.
June 2026 in “Advanced Healthcare Materials” This study found that engineered extracellular vesicles (293F-EGF-EV), enriched in EGF mRNA, significantly aided skin wound healing in vitro and in a rat model by promoting fibroblast activity and improving wound recovery through processes like angiogenesis and reduced scarring.
June 2007 in “Taiwan Journal of Ophthalmology” This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.
4 citations
,
April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
1 citations
,
January 2023 in “Burns and trauma” This study found that tdDPC-EVs significantly improved wound healing by enhancing angiogenesis through the KLF4/VEGFA axis, offering advantages over traditional DPC-EVs.
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.
1 citations
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May 2001 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This paper presents an RGB video microscopic system to monitor optical properties of hair shafts and follicles in vitro, but reports no new clinical results.
April 2015 in “MOJ Cell Science & Report” This study found that rat hair follicle stem cells can be effectively transfected with VEGF 165 using lentivirus vectors, suggesting their potential use in developing tissue-engineered skin with improved vascularization.
4 citations
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June 2021 in “Dermatology” This study validated the HS 3D-SeboSkin model as a reliable tool for preclinical research, effectively preserving the structure and biomarker expression of lesional and perilesional HS skin ex vivo.
52 citations
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November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
14 citations
,
May 2023 in “Dermatologic Surgery” VYC-12L effectively improves skin smoothness, reduces fine lines, and boosts hydration.
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.
40 citations
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June 2013 in “Molecular Pharmaceutics” This study demonstrates that transfected epidermal stem cells using a novel 3D transfection system significantly enhanced wound healing and may serve as an effective therapeutic agent and gene delivery method for wound treatment.
November 2025 in “Animals” In this study, hair samples from dogs with chronic degenerative valve disease showed significantly higher concentrations of certain endocrine-disrupting chemicals compared to healthy dogs, suggesting a potential link that warrants further investigation.
61 citations
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April 2023 in “Advanced Materials” This study introduced a viscoelastic dry electrode that successfully reduces motion artifacts in EP monitoring on hairy skin, maintaining stable performance for up to 48 days.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
October 1990 in “Pediatric Research” This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
47 citations
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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.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.