This study found significantly higher P-Smad2 levels in both lesional and nonlesional skin of organ transplant recipients, suggesting elevated TGF-β signaling might contribute to their increased cancer susceptibility.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” This study suggests that eNOS and STAT6 gene polymorphisms may increase the risk of developing PCOS in South Indian women.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
1 citations
,
March 2025 in “Frontiers in Physiology” This study identified key genes linked to immune cells and potential therapeutic compounds for alopecia areata by evaluating upregulated genes from patient datasets, highlighting T and NK cell involvement in hair follicle attack and suggesting drug candidates through molecular docking and dynamics simulations.
35 citations
,
October 2017 in “Signal Transduction and Targeted Therapy” This study found that fibromodulin significantly reduces scar formation and boosts scar strength in rodent and porcine models, suggesting potential for FMOD-based therapies in cutaneous wound repair.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
14 citations
,
January 2015 in “Hormones and Cancer” This study found that androgen receptor inactivation in male and female mice reduced susceptibility to DMBA-induced skin cancer, but the effect varied by the carcinogenesis model.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” In this study, expressing human K16 in the epidermis of K14 null mice prevented early skin blistering but led to age-related anomalies, indicating K16 and K14 have distinct roles despite their sequence similarity.
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
,
October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
June 2024 in “Research Square (Research Square)” This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.
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.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
37 citations
,
August 2019 in “Frontiers in Microbiology” This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
29 citations
,
January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.
26 citations
,
December 2015 in “Journal of The European Academy of Dermatology and Venereology” This article introduces a new grading system called the FPHL Severity Index to better identify and monitor early stages of female pattern hair loss using clinical criteria.
25 citations
,
March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
23 citations
,
March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
1 citations
,
May 2009 in “Wiley-Blackwell eBooks” Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
This study identified 193 plasma proteins associated with prostate cancer risk, validating 20 high-risk proteins including KLK3, and pinpointed potential drug targets like HSPB1, RRM2B, and PSCA through genetic analysis, offering new insights for biomarkers and treatments.
April 2024 in “Human genomics” This study identified MPB susceptibility genes and potential drug candidates that may help uncover molecular mechanisms and address male-pattern baldness.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” This review discusses forensic DNA phenotyping, focusing on male pattern baldness and its prediction through SNP markers, but reports no new results.
133 citations
,
January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
128 citations
,
September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
115 citations
,
September 2012 in “Experimental Dermatology” This article reviews the molecular mechanisms involved in androgenetic alopecia and the androgen's paradoxical role in hair growth, but reports no new experimental findings.
100 citations
,
June 2002 in “Diabetologia” This study found that parents of women with PCOS have a higher prevalence of insulin resistance and Type II diabetes than parents of healthy women.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.