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.
40 citations
,
February 1946 in “Canadian Journal of Research/Canadian journal of research” This study observed that the hair loss in homozygous rhino mice is associated with widening of the hair canal due to hyperkeratosis, leading to insufficient support for hair anchoring.
20 citations
,
April 2000 in “Experimental dermatology” This study observed that overexpression of the enzyme ODC in transgenic mice caused hair loss and skin changes similar to human papular atrichia, suggesting that ODC might be involved in a critical hair follicle function pathway.
1 citations
,
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.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
15 citations
,
October 1999 in “PubMed” This review discusses molecular genetic approaches to understanding and treating hair loss disorders like papular atrichia, highlighting potential future gene-based therapies, but reports no new clinical findings.
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.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
April 2017 in “Journal of Dermatological Science” In this study, both 2.5% benzoyl peroxide gel and 0.1% adapalene gel exhibited comedolytic effects on the spontaneous comedogenic rhino mouse model.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
36 citations
,
October 1996 in “Dermatologic Clinics” In this study, a methanol extract of Eclipta alba was found to have dose-dependent hair growth-promoting activity in C57BL6 mice.
86 citations
,
June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
54 citations
,
May 2001 in “Journal of Investigative Dermatology” This study suggests that increased putrescine levels may disrupt normal hair follicle development in transgenic mice, leading to hair loss and altered skin structure, yet these mice appear more resistant to skin tumorigenesis.
January 2009 in “Journal of the American Academy of Dermatology” This study reports on a patient whose symptoms, including trichoepitheliomas and clinical alopecia, may suggest a new syndrome possibly linked to myasthenia gravis.
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.
3 citations
,
February 2025 in “Journal of PHYSIOLOGICAL ANTHROPOLOGY” This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
13 citations
,
August 2021 in “Frontiers in Aging Neuroscience” This study found that in SAMP8 mice, phenotypic changes in outer hair cells or the stria vascularis, possibly due to oxidative deficiencies, may predict variability in age-related hearing loss before outer hair cell loss occurs.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
2 citations
,
October 2000 in “Journal of Investigative Dermatology” AUC and APL are distinct conditions needing careful clinical assessment.
4 citations
,
February 2018 in “EMBO reports” This discussion highlights the potential of next-generation sequencing in forensic science for predicting phenotypic traits from DNA samples, but reports no new clinical results and underscores ongoing ethical and legal challenges.
53 citations
,
May 2010 in “Journal of Cellular Physiology” This study found that mice lacking the Vitamin D receptor showed disrupted hair follicle cycling, which was partially restored with hedgehog signaling pathway activation, suggesting a role for this pathway in follicle regulation independent of vitamin D.
This study found that among women with polycystic ovary syndrome, higher age, obesity, hirsutism, and having children were independently associated with increased metabolic risk.
70 citations
,
July 2016 in “Aging” This study suggests that dermal adipocytes might play a key role in skin aging due to their transformation into fibrotic structures in chronically photo-damaged skin.
5 citations
,
January 2021 in “Frontiers in cell and developmental biology” This paper discusses the multipotency of cyst cells and proposes that understanding molecular circuits in cyst formation could enable engineering of desired stem cell culture phenotypes, but reports no new experimental outcomes.
74 citations
,
September 2006 in “Cell Cycle” This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.
1744 citations
,
August 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses definitions of polycystic ovary syndrome and reports no new clinical results; the authors support using modified 1990 NIH criteria and acknowledge ongoing evolution as research advances.