March 2011 in “Pigment Cell & Melanoma Research” This study found that changes in the expression of the Agouti gene contribute to the pale pigmentation in beach mice, with implications for melanocyte development and localization.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
This study found that transgenic expression of Endothelin 3 in mice can maintain a dark pigmentation phenotype independently of Mc1r signaling by regulating melanogenic genes.
70 citations
,
December 2004 in “Proceedings of the National Academy of Sciences” This study found that BMP signaling influences hair pigmentation in mice by affecting the Agouti protein and interacts with MC-1R pathways to modulate melanin production.
32 citations
,
October 2004 in “Experimental Dermatology” This study found that α-MSH acts as a modulator of inflammatory and fibrogenic responses in human fibroblastic skin cells, indicating potential therapeutic options for fibrotic skin disorders and inflammatory diseases of the hair follicle.
1 citations
,
January 2005 in “Experimental Dermatology” This study found that α-MSH may suppress IFN-γ-driven upregulation of ICAM-1 in human dermal fibroblasts, suggesting potential roles for melanocortins in inflammatory skin disorders beyond collagen synthesis effects.
1 citations
,
September 2004 in “Experimental Dermatology” This study found that α-melanocyte-stimulating hormone may modulate inflammation in skin connective tissue by inhibiting proinflammatory effects in fibroblasts.
January 2009 in “The Chinese Journal of Dermatovenereology” The study found that Tribulus terrestris extract, when administered in varying doses to C57BL/6J mice, may significantly increase MC-1R expression in hair follicle melanocytes.
November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” This review discusses the latest findings presented at the 4th Intercontinental Meeting of Hair Research Societies, covering advances in hair follicle biology, genetic bases for hair disorders, and potential new therapeutic approaches, but it reports no original study results.
16 citations
,
May 2006 in “PubMed” This article reviews the diverse regulatory roles of alpha-melanocyte-stimulating hormone in skin biology, highlighting its potential involvement in maintaining tissue homeostasis and protecting against inflammation-induced DNA damage but reports no new clinical findings.
6 citations
,
February 2023 in “Cosmetics” This study found that hexane extracts of Nostoc verrucosum significantly inhibited melanin synthesis in melanoma cells and demonstrated antioxidant activity, suggesting potential use in developing cosmetic and functional food products.
2 citations
,
April 2025 in “Small Ruminant Research” This study evaluated genetic diversity and morphological trait-associated genes in 897 animals from 14 African sheep breeds, finding the lowest genomic heterozygosity in Zulu sheep and the highest in Merino, with genetic analysis revealing associations between specific morphological traits and certain genes.
March 2013 in “Pigment Cell & Melanoma Research” This study revealed that different coat patterns in cats and cheetahs are related to variations in the aminopeptidase Q gene and endothelin-3 expression, which affects pigment production.
12 citations
,
August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
42 citations
,
January 2015 in “Polskie Archiwum Medycyny Wewnętrznej” This study found that certain gene polymorphisms, specifically MTHFR 677CC and GGH 401TT and CT genotypes, were associated with fewer adverse effects from methotrexate in rheumatoid arthritis patients.
1 citations
,
July 2020 in “The Egyptian Journal of Hospital Medicine” This study found no significant association between the MDR1 C3435T polymorphism and methotrexate responsiveness in rheumatoid arthritis patients.
29 citations
,
June 2016 in “Experimental Dermatology” This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
January 2024 in “Wiadomości Lekarskie” In this case-control study, researchers investigated the association between SIRT1 gene polymorphisms and colorectal cancer risk, finding no statistically significant differences in polymorphism frequencies between patients and controls, but noted trends that warrant further study in larger populations.
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.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
1 citations
,
September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
11 citations
,
March 2013 in “Gene” This study reported that the IL1A 4-bp indel polymorphism is associated with a reduced risk of alopecia areata in Chinese populations, possibly through miR-122 mediated regulation of IL-1α expression.
5 citations
,
May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
12 citations
,
January 2016 in “Journal of Assisted Reproduction and Genetics” This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.
This study found that the AMHR2-482A>G gene polymorphism is associated with an increased likelihood of polycystic ovary syndrome and altered hormone levels in affected women.
This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.