January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
8 citations
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February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
24 citations
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May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
1 citations
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March 2023 in “Science Translational Medicine” Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
1 citations
,
January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” Certain gene variations in PITX2 are linked to a higher risk of male pattern baldness in Indians.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
6 citations
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July 2005 in “Acta Ophthalmologica Scandinavica” Mitochondriopathy may cause eyelash loss.
6 citations
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March 1996 in “Journal of Investigative Dermatology” 194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
32 citations
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
February 1999 in “The anatomical record” Two mouse mutants have defective hair cuticle cross-linking.
122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
February 2024 in “Journal of Investigative Dermatology” Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
Ribonucleotide excision repair is crucial to prevent skin cancer.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
2 citations
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April 2019 in “Journal of Investigative Dermatology” Gasdermin A3 causes hair follicle stem cells to activate too early, leading to hair loss.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
51 citations
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November 2011 in “British Journal of Dermatology” A gene called HDAC9 might be a new factor in male-pattern baldness.