15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
12 citations
,
June 2021 in “Scientific Reports” This study identified aging-related epigenetic and transcriptomic biomarkers and suggested that curcumin might target and inhibit the JUN gene, implicating potential therapeutic strategies against aging.
8 citations
,
October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
5 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Piezo2 channels are primarily located on sensory axon membranes in mechanosensory end organs, supporting a model where mechanical stimuli activate Aβ RA-LTMR neurons via axon protrusions.
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.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” This study reported no significant association between vaspin and visfatin -4689G/T gene polymorphisms and alopecia areata in the Turkish population, although the visfatin GT genotype may pose a risk factor for the condition.
January 2023 in “Research Square (Research Square)” This study identified m6A-related genes, particularly IGF2BP3, as significantly up-regulated in keloid patients, potentially implicating them in the condition's molecular mechanisms and suggesting targets for therapy.
66 citations
,
December 2016 in “Frontiers in Plant Science” This study found that rice genotypes exhibit significant variation in root hair properties under low phosphorus conditions, with genotype DJ123 showing particularly efficient root hair growth and phosphorus uptake.
21 citations
,
March 2013 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that early-onset baldness in African-American men is associated with an increased risk of developing prostate cancer and more aggressive tumors, with potential interactions involving age and smoking.
12 citations
,
June 2013 in “The Prostate” This study found that dutasteride more effectively inhibited androgen receptor signaling and reduced cell growth compared to finasteride in prostate cancer cell models, with varying sensitivities across different cell lines.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
3 citations
,
August 2022 in “Biochemical Genetics”
1 citations
,
September 2023 in “Clinical, cosmetic and investigational dermatology” This genome-wide association study identified several genetic markers, including specific SNPs and HLA genotypes, associated with alopecia areata susceptibility in the Taiwanese population, highlighting key pathways involved in immune response and offering insights into the genetic origins of this autoimmune condition.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
June 2008 in “CRC Press eBooks” PCOS may have evolved as an advantage in past environments with food scarcity.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
6 citations
,
October 2024 in “BMC Infectious Diseases” This study observed that COVID-19 patients in Thailand infected with the Delta variant were more likely to develop pneumonia and certain post-infection conditions, while Omicron infections were associated with milder symptoms like sore throat and congestion.
6 citations
,
March 2024 in “Journal of Clinical Laboratory Analysis” This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
August 2024 in “Archives of Dermatological Research” Certain genetic variants and pathways are linked to hair loss.
3 citations
,
November 2022 in “European Journal of Human Genetics” This study developed new genetic prediction models for male pattern baldness with improved accuracy by utilizing a large set of markers and independent datasets, making them the most reliable available for this trait.
37 citations
,
August 2020 in “BMC Genomics” This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.
6 citations
,
January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
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.
March 2024 in “Dermatology and therapy (Internet)” This study identified eight genetic markers associated with androgenetic alopecia, suggesting that these SNPs could influence individualized therapeutic responses and highlight the need for personalized treatment strategies.
9 citations
,
May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.