13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
March 2026 in “Journal of Investigative Dermatology” 124 citations
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July 1997 in “Journal of Biological Chemistry” Overexpressing a specific enzyme in mice causes hair loss and female infertility.
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.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
November 2022 in “Journal of Investigative Dermatology” Rare genetic variants in 125 genes are linked to male-pattern hair loss.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
2 citations
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September 2023 in “Journal of the American Academy of Dermatology” CTP-543 effectively promotes hair regrowth in adults with moderate to severe alopecia areata.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
18 citations
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March 2009 in “Experimental Dermatology” Pilomatricoma can develop into various hair-related structures.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
130 citations
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November 2017 in “Frontiers in Immunology” The conclusion is that Treg-targeted therapies have potential, but more knowledge of Treg biology is needed for effective treatments, including for cancer.
17 citations
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April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
24 citations
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December 2016 in “Stem Cell Research & Therapy” P311 helps skin stem cells become myofibroblast-like cells, aiding wound healing.
March 2011 in “Journal of Dermatology” The conclusion is that a certain test might help find cancer spread in lymph nodes for melanoma patients, but more research is needed due to false positives.
4 citations
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February 2018 in “Journal of Investigative Dermatology” The document concludes that a protein involved in hair growth may link to baldness and that more research is needed on its role in hair loss and skin cancer treatments.
February 2026 in “Advanced Science” TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
23 citations
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September 2013 in “Molecular Carcinogenesis” Increased Stat3 activity reduces hair follicle stem cells and boosts other stem/progenitor cells.
169 citations
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May 2006 in “Genes & Development” Keratin 17 is crucial for normal hair growth by regulating hair cycle transitions with TNFα.
4 citations
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November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
October 2023 in “Research Review” Some skin tumors from hair follicles and glands can be linked to genetic syndromes and may be benign or malignant.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
19 citations
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January 2014 in “International Journal of Medical Sciences” Abnormal activation of hair follicle stem cells and Wnt/β-catenin signaling contributes to sebaceous neoplasms.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.