August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
16 citations
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February 2018 in “BMC Genomics” Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
7 citations
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January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
March 2026 in “Journal of Personalized Medicine” Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
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.
2 citations
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June 2024 in “Parasites & Vectors” Chronic T. gondii infection may harm male fertility.
January 2003 in “Hepatology” July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
6 citations
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October 1998 in “Experimental Dermatology” Normal skin results from interactions between EGF and the Tabby mutation.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
August 2011 in “Reproductive Toxicology”
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
6 citations
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March 1996 in “Journal of Investigative Dermatology”