93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
93 citations
,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.
55 citations
,
March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
54 citations
,
November 2001 in “Urology” This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.
39 citations
,
May 2011 in “Human Immunology” This review discusses findings from genetic studies on acne, highlighting progress in understanding its molecular pathogenesis without reporting new clinical results.
37 citations
,
January 2016 in “Australasian Journal of Dermatology” This study observed that scalp melanomas in older men often grow rapidly, appear without pigment, and have more aggressive features compared to other head and neck melanomas.
35 citations
,
August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
31 citations
,
March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
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
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
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
,
August 2006 in “Human Reproduction” This study found that the GGC repeat length significantly influenced testosterone levels in oral contraceptive users from high-risk breast cancer families, and homozygosity for short alleles may be linked to increased breast cancer risk.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
16 citations
,
July 2012 in “Current pharmaceutical biotechnology” This review discusses the pathogenesis of common sebaceous gland diseases and their molecular pathways, but it reports no new clinical findings.
12 citations
,
October 2004 in “Experimental Gerontology” This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it reports no new clinical results.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
9 citations
,
March 2009 in “Psychoneuroendocrinology” This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.
7 citations
,
April 2012 in “Biomolecular concepts” This article reviews the role of keratins in epithelial function and structure, discussing their involvement in growth control, organelle functions, and pathomechanisms of disorders, but reports no new clinical results.
6 citations
,
February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
4 citations
,
July 2022 in “Scientific reports” This study observed significant differences in hair and cashmere properties among three goat breeds in Southwest China, noting better quality cashmere in Inner Mongolia cashmere goats and their crossbreed compared to Dazu black goats.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
2 citations
,
March 2022 in “Research Square (Research Square)” In this study, the expression of certain hair follicle-related genes differed between growth phases in Angora goats, with HOXC13 showing overexpression during the anagen phase, potentially influencing the mohair's shine and texture.
2 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.
1 citations
,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” This article from the 4th Intercontinental Meeting of Hair Research Societies provides no abstract or new findings.
January 2023 in “Kafkas üniversitesi veteriner fakültesi dergisi/Kafkas üniversitesi veteriner fakültesi dergisi” In this study of Angora goats, researchers found that HOXC13 and other genes were overexpressed during the active hair growth phase, suggesting a role in mohair structure.
November 2022 in “Research Square (Research Square)” This study found that HOXC13 gene expression was significantly higher during the anagen phase in Angora goats, potentially contributing to the mohair's shiny and silky nature.
This study found that sarcoptic mange significantly decreased vicuña and guanaco populations in San Guillermo National Park, Argentina, likely originating from mange-infected llama introduced nearby, raising the risk of local extinction.