578 citations
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April 1993 in “Cell” TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
15 citations
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October 1999 in “PubMed” Understanding genes and mutations can lead to new treatments for hair loss disorders.
The mutation helps mice handle heat better without affecting hair growth.
10 citations
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May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
6 citations
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July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
6 citations
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
2 citations
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May 1991 in “PubMed” Nevus comedonicus is a rare skin condition causing dark bumps, treatable with retinoic acid or surgery.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
23 citations
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January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
42 citations
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December 2016 in “Cell Death & Differentiation” Damaging mitochondrial DNA in mice speeds up aging due to increased reactive oxygen species, not through the p53/p21 pathway.
3 citations
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November 1977 in “JAMA” Hair casts can be mistaken for lice, causing unnecessary stress.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
2 citations
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May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
35 citations
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April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
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.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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.
44 citations
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February 2021 in “Scientific Reports” Mutations in the spike protein affect drug binding and effectiveness.
September 2025 in “Jurnal Penelitian Pendidikan IPA” Two genetic variations in Moa buffalo help them adapt to heat.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.