10 citations
,
November 2021 in “International journal of molecular sciences” This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.
6 citations
,
April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
March 2024 in “Tissue and cell/Tissue & cell” This study found that in human hair bulbs, telomerase is present mainly in the nuclei of cells undergoing proliferation, particularly in the matrix epithelium during the anagen phase, and sparsely in the outer root sheath during late catagen and telogen phases.
287 citations
,
July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
This study on Antirrhinum trichomes found that stickiness in A. hispanicum is due to a recessive allele and mapped it to a specific region on Chromosome 1, while baldness in A. siculum likely involves a novel hairy allele.
April 2019 in “Journal of the Endocrine Society” This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.
13 citations
,
June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
47 citations
,
July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
25 citations
,
May 2020 in “Daehan saengsik uihak hoeji/Clinical and experimental reproductive medicine” This article discusses the potential benefits of platelet-rich plasma injections in ovarian tissue to improve reproductive outcomes in IVF for older individuals and proposes a mechanism to enhance embryo ploidy rescue, but reports no new clinical results.
130 citations
,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” This study found that estrogen receptor beta, not alpha, is the main mediator of estrogen action in human skin and hair follicles, suggesting a distinct role in these tissues.
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.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
62 citations
,
April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
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.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
December 2022 in “Curēus” This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” This study reports a strong association between the MICA locus, specifically the MICA∗3-DR∗6-DQ6 haplotype, and Alopecia Areata in families.
April 2020 in “International journal of research in dermatology” This case report presents an 8-year-old girl with congenital atrichia, marked by complete hair loss and papular lesions, linked to mutations in the human hairless gene.
6 citations
,
January 2013 in “Case reports in endocrinology” This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.
58 citations
,
December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
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.
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.
30 citations
,
May 1999 in “Food and chemical toxicology” This study suggests that topical procyanidin B-2 is safe for use as a hair growth agent, as it showed no mutagenic effects or significant irritation in a series of toxicological tests.
12 citations
,
September 2021 in “Stem Cell Reviews and Reports” This study suggests that StemMACS MSC Expansion Media is more suitable than PowerStem MSC1 media for expanding therapeutic adipose-derived mesenchymal stem cells, with less expression of negative markers and better chromosomal stability.
5 citations
,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
4 citations
,
December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
January 2026 in “Immunological Reviews” This review discusses sex differences in immune responses and highlights mechanisms involving sex hormones, X-linked genes, and X-Chromosome Inactivation, but reports no new clinical findings.
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.
August 2021 in “Research Square (Research Square)” In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.