56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
10 citations
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September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
5 citations
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May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
16 citations
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January 1998 in “PubMed” Sun exposure and genetics increase skin cancer risk from precancerous lesions.
1 citations
,
March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
1 citations
,
December 2020 in “International journal of molecular sciences” External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
July 2024 in “Journal of Investigative Dermatology” Losing both ERBB2 and ERBB3 receptors in mice causes significant skin problems and inflammation.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
80 citations
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June 1997 in “The American Journal of Human Genetics” November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
1 citations
,
April 2024 in “Metabolites” Activated protein C helps protect mice from long-term radiation damage.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
467 citations
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May 1999 in “Molecular Cell” Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
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.
54 citations
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February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
8 citations
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May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
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.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.