14 citations
,
February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
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.
3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
4 citations
,
August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
42 citations
,
February 2019 in “Circulation” This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
24 citations
,
September 2005 in “Journal of Cellular Biochemistry” This study found that all-trans and 9-cis retinoic acids increase steroid sulfatase activity in HL60 cells through mechanisms involving RARα/RXR heterodimers and multiple signaling pathways.
1 citations
,
July 2025 in “Scientific Reports” This study found that CD133-positive dermal papilla cells significantly enhanced hair growth in mice compared to CD133-negative cells, suggesting their potential for improving human hair follicle engineering.
15 citations
,
January 1993 in “DNA sequence” This study sequenced a related gene to KRT2.9 called KRT2.13, which encodes a type II keratin protein not expressed in the hair follicle, and found significant sequence homology suggesting possible gene conversion or conservation of functional sequences.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib reduces interferon signaling in hidradenitis suppurativa patients.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
13 citations
,
July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
2 citations
,
January 2011 in “Dental Medicine Research” This study suggests that Keratin 6hf may be a potential marker of oral squamous cell carcinoma and could play a role in its progression, though further research is needed to understand its function.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
3 citations
,
October 1994 in “Journal of Dermatological Science” This study developed a novel monoclonal antibody, TYHF-1, which specifically reacts with hair keratins but not with epidermal keratins or various other tissue cells.
3 citations
,
January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
3 citations
,
January 2023 in “Science advances” This study found that ablation of Tet2/Tet3 genes in skin epithelial cells altered hair shape and length, leading to hair loss, by affecting chromatin accessibility and gene expression related to hair follicle regulation.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
11 citations
,
October 2002 in “The Journal of Clinical Endocrinology & Metabolism” This study found that prepubertal Hispanic girls with idiopathic premature adrenarche did not show differences in 5 alpha-reductase or 11 beta-hydroxysteroid dehydrogenase activities compared to controls.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
November 2022 in “Scientific Reports” This study found that ESR1 gene polymorphisms may be linked to hormonal imbalances in young women with hyperandrogenism, potentially affecting bone mineral density indirectly.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” This study found that Gsdma3 mutation in mice allows hair follicles to bypass a typical telogen phase and directly enter the anagen phase, suggesting Gsdma3's role in hair cycle transitions by regulating Wnt signaling.
75 citations
,
August 2018 in “Plant physiology” In this study, researchers found that increased hydrogen sulfide levels in Arabidopsis disrupted actin dynamics through S-sulfhydration, leading to the depolymerization of actin filaments and inhibited root hair growth.
1 citations
,
January 2023 in “Journal of Clinical Medicine” This study reported that Tomorrowlabs HIF strengthening factor [HSF] hair restoration technology significantly improved hair thickness, density, shine, and elasticity, while reducing hair loss by an average of 66.8% and enhancing hair growth by up to 32.5% in subjects with androgenic alopecia over nine months.
5 citations
,
October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.