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.
May 2025 in “Clinical Proteomics” In this study, researchers identified three proteins, DEFB1, HGFAC, and CYB5D2, as potential drug targets for alopecia areata, and suggested that the traditional Chinese medicine ingredient cimigenol shows promise in interacting with DEFB1 for potential treatment.
13 citations
,
December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
2 citations
,
December 2022 in “PNAS nexus” In laboratory experiments, this study found that the topical prodrug SCD-153, a derivative of 4-methyl itaconate, reduced inflammation-related gene expression and induced significant hair growth in mice, suggesting it as a promising treatment candidate for alopecia areata.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
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.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
85 citations
,
June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
January 2024 in “Open MIND” This study identified five genes with rare variants potentially involved in male pattern hair loss and found no significant genetic or epidemiologic link between MPHL and severe COVID-19.
November 2025 in “Free Radical Biology and Medicine” This study identified ten potential therapeutic targets and biomarkers for androgenic alopecia, with SOD1 and KL as particularly promising candidates for future therapies.
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
115 citations
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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.
16 citations
,
September 2018 in “Clinical Biochemistry” This paper discusses the link between polycystic ovarian syndrome (PCOS) and health issues like infertility and cardiovascular diseases, caused by both genetic and environmental factors, but reports no new clinical findings.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
5 citations
,
November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
2 citations
,
January 2023 in “BMC plant biology” This study found that root hair length and density in rice are controlled by distinct genomic regions, with 18 regions identified but no overlap between the traits.
248 citations
,
August 2015 in “Pharmacological Research” This review discusses case reports of autoimmune diseases following vaccination and the challenges of establishing a clear epidemiological connection, urging further investigation into vaccine-induced autoimmunity.
9 citations
,
July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
46 citations
,
February 2016 in “Experimental Dermatology” This review discusses the genetic research developments in androgenetic alopecia, reporting no new clinical results, and highlights the potential for discovering novel therapeutic targets.
15 citations
,
April 2002 in “British Journal of Dermatology” This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
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.
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.
39 citations
,
December 2001 in “JNCI: Journal of the National Cancer Institute” This study found that enhanced expression of the Sonic hedgehog gene via an adenovirus vector accelerated hair regrowth in mice with chemotherapy-induced alopecia.
12 citations
,
September 2024 in “Frontiers in Immunology” This study found that metabolism-related genes significantly impact the prognosis and metastasis in breast cancer, and the development of prediction models may guide personalized therapeutic strategies.
January 2024 in “Wiadomości Lekarskie” This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.