April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
January 2026 in “Figshare” January 2026 in “Figshare” 3 citations
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May 2018 in “The Indian Journal of Animal Sciences” The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
26 citations
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February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
15 citations
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August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
June 2023 in “Research Square (Research Square)” A higher genetic risk score increases the chance of getting benign prostatic hyperplasia and affects treatment outcomes in Han Chinese men.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
September 2023 in “Journal of the American Academy of Dermatology”
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
1 citations
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May 2024 in “Human Genomics” Polygenic risk scores can predict the risk and outcomes of benign prostatic hyperplasia.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
42 citations
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July 2013 in “Gene” IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
1 citations
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January 2022 in “Research Square (Research Square)” CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
35 citations
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June 2011 in “British Journal of Dermatology” The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
4 citations
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November 2017 in “PubMed” Your genes, especially IL-1a, can predict how well a hair growth treatment with platelet rich plasma will work for you.
November 2024 in “Journal of Investigative Dermatology” Polygenic Score can help predict severe psoriasis and psoriatic arthritis.