March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
89 citations
,
October 1996 in “Dermatologic Clinics” This review discusses androgenetic alopecia and alopecia areata through a systems biology lens, emphasizing the role of multi-omics data integration to explore molecular mechanisms and potential therapeutic strategies, but offers no new clinical results.
148 citations
,
September 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Alopecia areata is an autoimmune disorder causing hair loss, linked to specific hair follicle antigens and genetic factors.
5 citations
,
March 2025 in “Pediatric Dermatology” This study found that alopecia areata is linked to genetic factors, specifically HLA haplotypes on chromosome 6, and involves immune privilege collapse at hair follicles which is mediated by the JAK-STAT pathway and pro-inflammatory cytokines like IFN-γ.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
49 citations
,
June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
2 citations
,
July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
In this study, a clear pattern of selective sweep was observed for the SLC24A5 gene, with high linkage disequilibrium and low haplotype diversity, but no clear correlation with UV radiation intensity was found.
January 2017 in “Springer eBooks” This article reviews the classification, pathogenesis, and treatment options for cutaneous lupus erythematosus and reports no new clinical findings.
58 citations
,
December 2020 in “Mayo Clinic Proceedings” This paper discusses the variability in COVID-19 susceptibility and severity, emphasizing factors like biological differences and suggesting potential precision medicine approaches, but it reports no new clinical results.
26 citations
,
May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
13 citations
,
July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
299 citations
,
March 2001 in “Journal of Investigative Dermatology” This study found that specific genetic markers near the androgen receptor gene are significantly more common in men with male pattern baldness, suggesting a genetic component in its development.
3 citations
,
July 2023 in “Biomolecules” This study reports that some human cell surface HLA-I molecules (including HLA-B27) can appear without their usual peptide component, potentially altering immune interactions, influencing arthritis development in specific mice models, and exhibiting upregulation in certain cancer cells.
December 2010 in “Jurnal Natural (Faculty of Mathematics and Natural Science, Syiah Kuala University)” This thesis explores both environmental and genetic factors in prostate cancer, focusing on surrogate hormone markers, medical radiation, family history, and genetic polymorphisms related to DNA repair and hormone marker genes, but reports no new clinical findings.
June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
May 1991 in “Current problems in dermatology” This article reviews the relationship between the skin and the immune system and discusses how skin manifestations can indicate immunodeficiencies but reports no new research findings.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
16 citations
,
December 2001 in “Dermatologic Therapy” This review summarizes current genetic knowledge of alopecia areata and provides a theoretical framework for future genetic mapping studies, but reports no new results.
1 citations
,
July 2025 in “Middle East Fertility Society Journal” This study found that women with PCOS had significantly higher levels of several autoantibodies compared to healthy controls, suggesting a potential autoimmune component to PCOS that might aid in better disease characterization and personalized management.
144 citations
,
August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
47 citations
,
January 2013 in “International Journal of Cosmetic Science” This review explores genetic and lifestyle factors influencing hair diversity and reports no new findings, calling attention to the potential for future discoveries in genetic and epigenetic research.
27 citations
,
September 2018 in “Nanomedicine: Nanotechnology, Biology and Medicine” This review discusses recent advances in hair regeneration therapies, highlighting the potential of nanotechnology and pluripotent stem cells, and reports no new results, emphasizing the need for further research.
6 citations
,
January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
4 citations
,
April 2021 in “Experimental and Molecular Medicine” This review examines host factors like ACE2 and TMPRSS2 in SARS-CoV-2 infection, exploring how genetic variants and advanced cellular analyses might clarify COVID-19's severity and heterogeneity; it reports no new results.
3 citations
,
May 2023 in “Frontiers in immunology” This study reviewed the role of inflammasomes in autoimmune skin diseases, highlighting their contribution to the pathogenesis of conditions such as vitiligo, alopecia areata, and psoriasis, and suggesting that targeting inflammasome dysregulation may offer new therapeutic options.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.