7 citations
,
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.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.
2 citations
,
September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
2 citations
,
August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
January 2012 in “Durham e-Theses (Durham University)” Keratin 15 affects cell behavior and characteristics in skin cells.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
8 citations
,
September 2013 in “Molecular carcinogenesis” Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
16 citations
,
August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
4 citations
,
June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
99 citations
,
August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
6 citations
,
January 2024 in “Annals of Dermatology” Dickkopf-related Protein 2 can help hair grow by activating a specific cell pathway.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
3 citations
,
August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
8 citations
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January 2013 in “genesis” Zfp157 is active in many mouse tissues during development and in specific adult cells.
21 citations
,
January 1995 in “Molecular Biology Reports” Scientists discovered two versions of a new human hair keratin gene.
16 citations
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February 2022 in “Science Advances” Follistatin and LIN28B together improve the ability of inner ear cells in mice to regenerate into hearing cells.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” 19 citations
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February 2013 in “Archives of Dermatological Research”
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.