101 citations
,
September 2006 in “Journal of Biological Chemistry” Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
9 citations
,
November 2015 in “Plastic and reconstructive surgery/PSEF CD journals” Gene knockout mice developed scars similar to human hypertrophic scars, useful for studying scar progression.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
2 citations
,
June 2016 in “International journal of experimental pathology” Human skin has less GDNF and its receptor with age.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
September 2021 in “International Journal of Biomedicine” Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
The agouti gene may help understand and treat obesity.
11 citations
,
October 2014 in “Gene” Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
2 citations
,
June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
26 citations
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February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
15 citations
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April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
17 citations
,
April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
September 2025 in “Cosmetics” Genetic profiling can improve androgenetic alopecia treatment by predicting drug response and minimizing side effects.
November 2022 in “Scientific Reports” Certain ESR1 gene variations may affect hormone levels and fat distribution in women with high male hormone levels.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
29 citations
,
October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
135 citations
,
March 2000 in “Journal of Biological Chemistry” Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
1 citations
,
August 2021 in “Medical Science Monitor” Male and female hair loss have different genetic causes.
October 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
61 citations
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June 2019 in “BMC Genomics” lncRNAs significantly influence koi carp skin color.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
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.