7 citations
,
July 2019 in “Animals” This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
110 citations
,
February 2024 in “Journal of Chemical Information and Modeling” This study describes the PandaOmics platform, which uses AI and bioinformatics to identify new therapeutic targets and biomarkers for various diseases, demonstrating validation in laboratory and animal studies.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
15 citations
,
August 2013 in “Gene” This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
4 citations
,
January 2020 in “Genes” This study found that genetic variation in the KRTAP21-2 gene among crossbred Merino lambs was associated with differences in wool traits, particularly mean staple length.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
June 2024 in “Current Developments in Nutrition” This population-based study found that n-3 fatty acid intake may not benefit and could potentially harm hair loss improvement in middle-aged or elderly men, as higher n-3 intake was associated with a greater risk of non-improvement in male pattern hair loss.
In this study, significant associations were observed between specific genetic polymorphisms in BDNF and CRH-R1 and the occurrence of vitiligo, along with differing serum levels of neurotransmitters between vitiligo patients and healthy controls.
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the formation and goals of the Pediatric Dermatology Research Alliance (PeDRA) but reports no new clinical results; it emphasizes collaborative research to advance treatment options for pediatric skin disorders.
42 citations
,
July 2013 in “Gene” This study found that intron 3 VNTR polymorphism in the IL-4 gene may be associated with an increased risk of alopecia areata in the Turkish population.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
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.
3 citations
,
April 2022 in “Biomolecules” This study found that the MIR34A rs2666433 (A/G) variant is linked to increased risk and severity of alopecia areata, and high circulatory miR-34a levels may play a role in the disease's pathogenesis.
May 2025 in “Anadolu Kliniği Tıp Bilimleri Dergisi” This study found that in male patients with androgenic alopecia, individuals with certain glutathione S-transferase gene polymorphisms exhibited higher oxidative stress and lower antioxidant capacity, although differences were not statistically significant, and oxidative stress appeared to increase with the progression of alopecia stages.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” In this study, researchers found that the "U" allele of the Tru9I variant may be associated with low vitamin D levels and altered VDR gene activity in alopecia areata patients, while the "u" allele might have a protective role against developing the condition.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” This study found that specific PITX2 gene variants are significantly associated with higher risk of androgenetic alopecia in males, highlighting important genetic and environmental interactions influencing its development.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
January 2024 in “Wiadomości Lekarskie” In this study, researchers analyzed spermogram data from men with diagnosed infertility in Ukraine, aiming to identify the most common sperm disorders, and they found that the study primarily involved men with primary infertility, compared to a control group of healthy men with confirmed fertility.
133 citations
,
February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
15 citations
,
June 2011 in “British Journal of Dermatology” This study observed a potential association between the CC genotype of rs4646 and female pattern hair loss, but the authors advise caution due to lack of experiment-wide significance and recommend replication.
7 citations
,
June 2024 in “Communications Medicine” In this study, researchers analyzed spaceflight data from various sources and found that skin issues during spaceflight are linked to DNA damage, mitochondrial dysregulation, and gene alterations, while also highlighting the skin's adaptability post-flight.
7 citations
,
November 2014 in “Histochemistry and Cell Biology” This study found that mutant mice with the we/we wal/wal genotype exhibit significant defects in hair shaft structure and epidermis stratification, correlating with postnatal alopecia symptoms.
15 citations
,
December 2013 This study found that in men with androgenic alopecia, moderate to severe cases were associated with the AA genotype of rs1160312, blood vanadium concentrations, and regular consumption of soy bean drinks.
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.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.