28 citations
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July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
19 citations
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September 2019 in “PLOS genetics” Telomere damage affects skin and hair follicle stem cells by messing up important growth signals.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
11 citations
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March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
July 2024 in “Research Square (Research Square)” SIRT3 and SIRT7 decrease, while NFATC1 and PDL-1 increase in Androgenetic Alopecia.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
76 citations
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February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
August 2013 in “Nature Reviews Drug Discovery” New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
April 2016 in “Journal of Investigative Dermatology” Tumor cell adhesion is linked to higher risk of SLN metastasis and melanoma recurrence, and a model including these factors predicts these outcomes better than one with just clinical data.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
August 2025 in “International Journal of Cancer” Childhood and adult height, and early immune-related hospitalizations increase testicular cancer risk, while baldness, larger families, and sports reduce it.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
7 citations
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December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
10 citations
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May 2007 in “Oncology Reports” Colorectal cancer's ability to spread is due to changes in many genes, not just one.
2 citations
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October 2017 in “Revista Da Associacao Medica Brasileira” Removing p16INK4a from skin cells can lead to faster and more clumped growth, which might help with hair growth.
15 citations
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January 1991 in “Mammalian Genome”
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
26 citations
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
August 2013 in “Nature Reviews Drug Discovery” New treatments may restore cancer-blocking proteins, slow prostate cancer, identify drug targets, and potentially regrow hair.
11 citations
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March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.