97 citations
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December 2011 in “New England Journal of Medicine” This article discusses the FDA's decision not to approve 5α-reductase inhibitors for prostate cancer prevention, citing an increase in high-grade tumors but no mortality evidence, and reports no new results.
2 citations
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January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
12 citations
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February 2017 in “Journal of neuroscience research” This study suggests that extrasynaptic δGABA-A receptors may have a protective role in modulating the severity of catamenial-like seizures by influencing neurosteroid and benzodiazepine responses in mice.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
6 citations
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April 2018 in “Transplantation proceedings” This case report describes severe agranulocytosis and alopecia in a Japanese woman after starting azathioprine, highlighting the potential role of NUDT15 genetic screening in preventing adverse reactions to the drug.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that GATA6 is a key regulator of the upper pilo-sebaceous unit homeostasis and differentiation in human skin.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
10 citations
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September 2022 in “Animals” This research identified 18 significant SNPs and several candidate genes associated with udder conformation traits in Holstein cattle, providing insights into their genetic architecture.
9 citations
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June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
5 citations
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August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
February 2024 in “Experimental Dermatology” In this study, researchers found that IGFBP‐rP1 levels were lower in individuals with androgenic alopecia compared to healthy controls, and subcutaneous injection of IGFBP‐rP1 showed potential in slowing hair loss progression in a mouse model by affecting the hair cycle transition.
25 citations
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December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
February 2020 in “Biophysical journal” This study confirms that zebrafish engineered with Cantú Syndrome mutations in ABCC9 and KCNJ8 genes exhibit gain-of-function characteristics in their cardiovascular KATP channels, similar to mammalian counterparts.
2 citations
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June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
24 citations
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January 2019 in “Theranostics” This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.
14 citations
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May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
April 2026 in “Inflammation and Regeneration” This study found that androgen inactivation pathways in scalp sebaceous glands change with age, specifically noting that AKR1C expression, including AKR1C4 previously thought liver-specific, declines with age and is sex dependent, which could impact hair follicle health during aging.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
101 citations
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October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
2 citations
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October 2018 in “Archives of Dermatological Research” The researchers reported that topical tofacitinib in mice increased hair follicles in the growth phase and boosted noggin and BMP4 mRNA expressions, compared to a vehicle and minoxidil.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
91 citations
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July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
8 citations
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May 2024 in “PLoS Biology” This study on feather pattern formation in chicken skin found that inhibiting gap junctional intercellular communication can lead to the emergence of new feather buds in specific spatial patterns, suggesting that GJIC may facilitate Turing-type periodic patterning by propagating inhibitory signals over long distances.