June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
March 2024 in “Indian Journal of Dermatology/Indian journal of dermatology” Using animal names for skin conditions helps with learning and memory.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
June 2024 in “British Journal of Dermatology” A rare case of a transplant patient developing a skin condition linked to HPV-49.
June 2008 in “Wound Repair and Regeneration” Msx-2 gene removal speeds up skin wound healing in mice.
41 citations
,
September 2003 in “Journal of Investigative Dermatology” Overexpression of COX-2 causes early hair loss in mice, but can be prevented with a COX-2 inhibitor.
467 citations
,
May 1999 in “Molecular Cell” Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
105 citations
,
October 2018 in “Nature” A small group of slow-growing cells causes basal cell carcinoma to return after treatment.
79 citations
,
February 2009 in “Human Genetics” 79 citations
,
October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
43 citations
,
December 2006 in “The American journal of pathology” Edar signaling is crucial for controlling hair growth and regression.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
15 citations
,
July 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
11 citations
,
November 2015 in “Experimental Dermatology” The conclusion is that the IL-6/STAT3 activation affects p63 expression in healing wounds, which may help in hair follicle regeneration.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
8 citations
,
July 2015 in “European journal of histochemistry” Sox9 is present in most canine skin tumors and may help understand stem cells' role in these cancers.
6 citations
,
July 2020 in “Photodermatology Photoimmunology & Photomedicine” Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
5 citations
,
April 2022 in “Genes” miR-129-5p affects hair growth by targeting the HOXC13 gene.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
4 citations
,
July 2025 in “International Journal of Molecular Sciences” Targeting amphiregulin may improve treatment for fibrosis and cancer.
2 citations
,
June 2025 in “Preprints.org” Targeting amphiregulin may improve treatment for fibrotic diseases and cancer.
2 citations
,
February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
1 citations
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January 2013 November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
November 2025 in “BMC Genomics” Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.