32 citations
,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
30 citations
,
October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
9 citations
,
June 2016 in “Stem cells” Overexpression of sPLA2-IIA in mouse skin reduces hair stem cells and increases cell differentiation through JNK/c-Jun pathway activation.
28 citations
,
March 1993 in “Journal of Cell Science” Keratins K4 and K13 form stable dimers in mature esophageal cells, aiding cell stability.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
8 citations
,
March 2015 in “International Journal of Oncology” Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
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.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
14 citations
,
May 2022 in “Stem cell reports” The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
4 citations
,
January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
March 2026 in “Journal of Investigative Dermatology”
7 citations
,
September 2019 in “Journal of Cellular Physiology” Akt2 protein is essential for normal cell division in early mouse embryos.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
25 citations
,
September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
7 citations
,
August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
32 citations
,
February 2008 in “Journal of the American Academy of Dermatology” KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
1 citations
,
November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.