53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
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.
46 citations
,
November 1998 in “Experimental Cell Research” This study found that K15 is variably expressed in sheep and mouse hair follicles, with specific patterns suggesting a role in the early stages of keratinocyte differentiation.
44 citations
,
January 2019 in “Journal of Translational Medicine” This study found that macrophages are crucial for skin regeneration during tissue expansion, as their depletion in rats led to inhibited skin growth and reduced secretion of key growth factors.
42 citations
,
August 2022 in “Diagnostics” This review examines existing evidence on PCOS diagnostic criteria for adolescents and underscores the need for accurate definitions, while highlighting limited research, especially regarding adolescents at risk of PCOS.
40 citations
,
January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
33 citations
,
March 1994 in “PubMed” This study reported that high ornithine decarboxylase expression and decreased keratin K1 and K10 expression may serve as useful markers for early stages of tumor development in mouse skin.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.
28 citations
,
July 2017 in “Journal of Endocrinological Investigation” This study suggests that early onset androgenetic alopecia in men may indicate a male PCOS equivalent, possibly leading to higher risks of metabolic and cardiovascular disorders later in life.
28 citations
,
May 2017 in “Molecular ecology” This study observed that in wild snowshoe hares, gene expression patterns during seasonal coat color change show a consistent lag between gene expression and visible coat color changes.
28 citations
,
November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
23 citations
,
May 2009 in “International Journal of Dermatology” In this study, no association was found between the AR gene and type II androgenetic alopecia in Egyptian women, suggesting it is not a useful biomarker for predisposition.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
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.
19 citations
,
March 2016 in “Frontiers in Plant Science” This study identified that spermidine-mediated activation of eIF5A by hypusination plays a significant role in Arabidopsis thaliana growth, flowering time, stress adaptation, and development, including changing root and aerial architecture.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
17 citations
,
June 2018 in “Sexual Medicine Reviews” In this review, the authors examined guidelines and literature on the non-operative treatment of gender dysphoria, highlighting the importance of personalized, multidisciplinary care, and noting that such treatment is generally safe and effective according to WPATH and Endocrine Society recommendations.
17 citations
,
January 2007 in “Annals of Medicine” This review discusses advancements and challenges in cutaneous gene therapy using direct and indirect techniques, noting that while clinical translation has begun, further developments are essential for progress.
16 citations
,
July 2020 in “Health and Quality of Life Outcomes” This study found that health-related quality of life was significantly lower in women with polycystic ovary syndrome, especially those with the anovulatory phenotype, compared to non-PCOS controls attending a tertiary hospital.
14 citations
,
March 1995 in “Journal of cell science” This study found that targeting SV40 T antigen expression to hair follicles in transgenic mice caused abnormal hair structure and hair loss, but did not lead to cell immortalization or tumor formation in follicles.
13 citations
,
July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
13 citations
,
January 2018 in “Yonsei Medical Journal” This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
11 citations
,
October 2022 in “Clinical Cosmetic and Investigational Dermatology” In this study, SNPs in genes affecting skin pigmentation were linked to each skin type's unique response to environmental stress, suggesting potential for personalized skin care products.