March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
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.
November 2020 in “Journal of The American Academy of Dermatology” This study reported that using plain bottles instead of commercial kits for extracting platelet-rich plasma may be an effective method for treating hair loss.
36 citations
,
September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
September 2025 in “Genes” In this study, researchers reported that specific gene polymorphisms in Jiangnan cashmere goats, particularly SNPs in the HOXC13 and WNT4 genes, were significantly associated with key economic traits like birth weight and yearling weight, providing molecular markers for breeding and enhancing economic trait stability.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
10 citations
,
November 2024 in “Animals” This review examines the genetic challenges in improving wool and cashmere fibers, emphasizing the need for further research on wool keratins and keratin-associated proteins to enhance fiber characteristics.
1 citations
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November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
January 2021 in “Research Square (Research Square)” This study mapped copy number variations in Chinese fine-wool sheep, identifying regions linked to important traits like milk production and growth, and highlighting a strong selection signal at the RXFP2 gene.
This study constructed a genomic map of copy number variations in fine-wool sheep, revealing their potential impact on traits like growth, nutrient metabolism, and susceptibility to selection pressures.
111 citations
,
October 2008 in “Nature Genetics” In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.
6 citations
,
November 2022 in “Forensic Science Medicine and Pathology” This study demonstrated that genetic markers can predict human ear morphology with moderate to good accuracy, potentially aiding forensic identification in crime scene investigations where traditional DNA matches are unavailable.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
1 citations
,
February 2009 in “Clinical Genetics” This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
September 2019 in “Journal of Investigative Dermatology” This study suggests that subtle modifications in ribosomal RNA methylation may influence cellular physiology and contribute to ribosome specialization in senescent human dermal fibroblasts.
September 2019 in “Journal of Investigative Dermatology” This study found that polyamine levels were higher in the vertex hair than in occipital hair among patients with pattern baldness, suggesting a relation to hair loss development in the scalp's vertex region.
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.
4 citations
,
November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
3 citations
,
March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
2 citations
,
August 2023 in “Development” In this study, researchers explored how hair follicle orientation is affected in the rosette fancy mouse and found that a mutation in the PCP gene Fzd6 caused reversed hair orientations in the posterior region, leading to the formation of unique whorls.
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.
160 citations
,
January 2014 in “Seminars in cell & developmental biology” This review discusses the shared molecular and cellular processes in the early development stages of skin appendages like hair follicles, teeth, and mammary glands, reporting no new results.
148 citations
,
December 2018 in “Journal of autoimmunity” This review discusses genetic and environmental factors contributing to autoimmunity in alopecia areata and reports no new clinical findings, emphasizing the need for further study on its aetiology and pathophysiology.
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.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
103 citations
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March 2011 in “PLoS Biology” This study found that a mutation in the BMP12/GDF7 gene is associated with the Naked neck trait in chickens, reducing neck feathering due to altered signaling pathways.