July 2005 in “British Journal of Dermatology” New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
April 2023 in “Journal of Investigative Dermatology” Type 1/17 inflammation in psoriasis increases skin cell growth due to a molecule that could be a new treatment target.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
April 2023 in “Journal of Investigative Dermatology” Targeting mTOR in myeloid cells may help reduce psoriasis symptoms.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
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.
Sphingosine 1-phosphate affects inflammation and gene expression in different aorta cells.
12 citations
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December 2022 in “Frontiers in Bioscience-Landmark” The role of certain genes in skin cell development may be linked to psoriasis, but the connection is unclear.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
June 2023 in “Medical records-international medical journal” Decreased IGF-1R expression may contribute to sacrococcygeal pilonidal sinus development.
December 2024 in “Regenerative Therapy” Inhibiting SFRP1 may help treat hair loss.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
A KRT32 gene variant causes loose anagen hair syndrome.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.