March 2005 in “Journal of The American Academy of Dermatology” Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
3 citations
,
December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
23 citations
,
July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
December 2023 in “Forensic science international. Genetics” This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.
3 citations
,
January 2004 in “Sen i Gakkaishi” This study found that adding dithiodiglycolic acid to the hair straightening process decreased chemical damage and preserved the structural integrity of the hair matrix compared to using thioglycolic acid alone.
January 2000 in “Zhongguo yixue wulixue zazhi” This study observed that human hair keratin showed distinct morphological features depending on the dissolution speed, which could have potential applications in clinical settings for developing self-tendons.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
1 citations
,
August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
61 citations
,
January 2013 in “International Journal of Biological Macromolecules” This study found that applying both dehydrothermal treatment and carbodiimide crosslinking improved the mechanical properties of porcine acellular dermal matrix scaffolds without added cytotoxicity, suggesting potential applications in tissue engineering.
126 citations
,
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.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
1 citations
,
June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
10 citations
,
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.
1 citations
,
May 2024 in “Communications Biology” This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.
4 citations
,
December 2018 in “Macedonian Journal of Chemistry and Chemical Engineering” This study developed a reliable RP-HPLC-DAD method, finding that amino acid concentrations in bleached hair decrease with higher hydrogen peroxide levels, notably affecting cystine.
17 citations
,
September 1953 in “Journal of Cell Science” This study found that the tetrazolium salt INT is the most effective for revealing dehydrogenase activity and certain histological structures in sheep and other mammals' skin.
December 2023 in “Materials Today Sustainability” Scientists made glow-in-the-dark dots from human hair that can detect iron, prevent counterfeiting, and reveal fingerprints.
135 citations
,
October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study observed that treating hair follicles with BM15766 and 7DHC led to structural damage, disrupted cellular organization, reduced expression of key genes and proteins, and increased apoptosis, in contrast to controls, indicating detrimental effects on hair follicle integrity.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
12 citations
,
May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
1 citations
,
September 2002 in “European Journal of Endocrinology” This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.
32 citations
,
June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
1 citations
,
August 2016 This study investigated the cytotoxic effects of DHA derivatives on cancer cell lines and found that didocosahexaenoin was the most potent, inducing apoptosis and producing reactive oxygen species in PC3 prostate carcinoma cells.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential of ZDHHC17 methylation as a biomarker or therapeutic target in addressing skin aging, offering new insights into its molecular mechanisms.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
This study explores the expression and function of 11β-HSD1 in human hair follicles and its potential regulation of glucocorticoid effects on dermal papilla cells, but reports no definitive findings on 11β-HSD1's role.