5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
1 citations
,
October 2025 in “BMC Genomics” This study found that both natural and environmental selection have significantly influenced the goat genome, revealing genetic loci tied to adaptation, fitness, and productive traits, more so than artificial selection, across various goat populations.
1 citations
,
August 2021 in “Frontiers in Genetics” This study suggests that melatonin may enhance wool growth in cashmere goats by activating sulfur metabolism genes and high-sulfur protein genes, which are crucial for providing sulfur-containing amino acids needed for wool quality.
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.
143 citations
,
January 2004 in “Journal of Investigative Dermatology Symposium Proceedings” This review discusses the autoimmune nature of alopecia areata, potential therapeutic targets, and highlights the need for further studies on immunomodulatory treatments and genetic factors, but it reports no new clinical results.
23 citations
,
October 1996 in “Dermatologic clinics” This review discusses genomic and postgenomic alterations in chronic degenerative diseases and potential modulation by dietary and pharmacological agents, reporting no new clinical results.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
47 citations
,
April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
25 citations
,
April 2017 in “PloS one” In this study, specific SNPs in the FST gene were significantly associated with various wool quality traits in Chinese Merino sheep, suggesting potential markers for breeding programs.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
7 citations
,
March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
5 citations
,
January 2016 in “Skin appendage disorders” This case report describes frontal fibrosing alopecia in a woman with primary biliary cirrhosis and polymyalgia rheumatica, suggesting a possible autoimmune link to this form of hair loss.
2 citations
,
May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
2 citations
,
April 2022 in “Genes” This study identifies a polygenic basis for atypical recurrent flank alopecia in Cesky Fousek dogs through genome-wide association analysis and gene expression profiling, highlighting several metabolic pathways involved in the condition.
1 citations
,
February 2025 in “Medicina” This study examined genetic risk factors for alopecia areata in the Jordanian population but found no significant association between the 21 targeted risk loci and the condition, emphasizing variability in genetic predisposition across ethnic groups and potential non-genetic triggers.
1 citations
,
October 2024 in “Medicina” In this genetic study, the researchers found that variants in the CLEC4D gene are significantly associated with the development of alopecia areata among individuals in the Jordanian population, pointing to a potential genetic influence on the disease's pathogenesis.
March 2025 in “Human Genetics and Genomics Advances” This study found that genetic predictions of male pattern baldness from European populations do not generalize well to African populations, highlighting significant differences in genetic architecture between them.
June 2024 in “Computational and Structural Biotechnology Journal” This review discusses the integration of omics analyses in androgenetic alopecia research, reporting no new clinical results but suggesting that collaborative multi-omics studies may enhance understanding of AGA's pathomechanisms.
37 citations
,
July 2002 in “Archives of Pathology & Laboratory Medicine” The authors concluded that antibodies against tyrosinase and gp100 may be effective in diagnosing melanoma, including challenging variants like amelanotic and desmoplastic types, when appropriate antigen retrieval techniques are used.
31 citations
,
August 2023 in “Cell Genomics” This study produced a high-coverage genome of the Tyrolean Iceman, revealing no Steppe-related ancestry but significant Anatolian-farmer-related ancestry, and found genetic markers associated with darker skin, male-pattern baldness, type 2 diabetes, and obesity, aligning with observations of his mummified body.
30 citations
,
November 2019 in “Genetics selection evolution” This study found that in Chinese goat breeds, specific genetic variations, particularly in Tibetan Cashmere goats, are associated with traits like hair growth and adaptation to high-altitude environments.
18 citations
,
June 2010 in “Cell Stress and Chaperones” This study reported that heat treatment significantly increased the incidence of alopecia areata in C3H/HeJ mice, suggesting a role for induced HSPA1A/B expression in disease development.
4 citations
,
May 2024 in “Genes” Among Merino × Southdown cross sheep, this study found that certain variants of the KRT81 gene were associated with differences in fleece weight, but not with staple length or fibre diameter traits.
2 citations
,
October 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Aire‒/‒ mice spontaneously developed persistent AA-like lesions, highlighting a potential role for AIRE in hair follicle biology and pathogenesis of alopecia areata.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
December 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that IL-1β may play a role in inflammatory signaling pathways in papulopustular rosacea, contributing to its pathogenesis.
1 citations
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January 2024 in “Journal of personalized medicine” This narrative review suggests a strong association between abrupt hormonal imbalances and frontal fibrosing alopecia in women, especially related to reduced fertile years and certain hormonal therapies.