4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
47 citations
,
September 2004 in “Journal of Biological Chemistry” This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
143 citations
,
January 2007 in “The American Journal of Human Genetics” This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
25 citations
,
May 2011 in “Dermatologic therapy” This review discusses potential new drug treatment strategies for alopecia areata based on genome-wide association study findings, but it reports no new clinical results.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
April 2011 in “Vestnik dermatologii i venerologii” This study found an association between 'short' CAG repeats in the androgen receptor gene and increased non-random X chromosome inactivation in women with androgenic alopecia.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
7 citations
,
May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
1 citations
,
June 2022 in “Journal of Cosmetic Dermatology” This study in a Korean population identified two novel genetic variants that may increase the risk of androgenetic alopecia, contributing to understanding its genetic basis in non-European populations.
September 2006 in “Pediatrics in Review” This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.
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.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
April 2016 in “Journal of The American Academy of Dermatology” People with Down syndrome are more likely to experience hair loss, and using dermoscopy can help diagnose it.
4 citations
,
January 2013 in “International Journal of Trichology” Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
November 2025 in “animal” In this study, researchers analyzed 24 European Merino sheep populations to investigate genetic adaptations to climate, identifying 168 significant SNPs and related genes associated with temperature variation and environmental adaptation, focusing on traits like isothermality and pathways related to immune response and system development.
66 citations
,
January 2001 in “Vitamins and hormones” This chapter reviews the role of androgen receptors in mediating the actions of androgens in specific tissues and provides no new experimental findings.
11 citations
,
July 2021 in “Genetics selection evolution” This study used whole-genome sequence data to identify numerous putative causal variants and genes affecting key wool traits and skin wrinkle in Merino sheep, highlighting their polygenic and pleiotropic nature.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” This study developed a DPC cell line by introducing mutant CDK4, Cyclin D1, and TERT, making it a promising tool to study downstream signaling pathways activated by testosterone in androgenetic alopecia.
November 2020 in “UNC Libraries” In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.
61 citations
,
September 2008 in “Stem Cells” This study found that DNA strand segregation in multipotent hair follicle stem cells occurs randomly during development and tissue homeostasis, challenging the immortal strand hypothesis.