August 2007 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
6 citations
,
December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
8 citations
,
October 2018 in “Journal of the European Academy of Dermatology and Venereology” Mohs micrographic surgery is effective for early-stage non-melanoma skin cancers on the lips, with basal cell carcinoma more common on the upper cutaneous lip and squamous cell carcinoma more common on the lower vermilion lip.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
April 2023 in “Journal of Investigative Dermatology” Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
96 citations
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September 1996 in “PubMed” Desmocollin 1 and 3 have distinct patterns in human tissues, with Dsc1 in specific skin and hair layers and Dsc3 in various epithelial layers.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
33 citations
,
February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
25 citations
,
January 2004 in “The International Journal of Developmental Biology” Research on skin disorders in humans and mice has improved understanding of hair and skin development.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
2 citations
,
February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
54 citations
,
May 1999 in “Journal of Cutaneous Pathology” Apocrine type cutaneous mixed tumors often resemble hair follicles, sebaceous glands, and apocrine glands.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
August 2020 in “SKIN The Journal of Cutaneous Medicine” Cetuximab can cause skin cysts after acne-like eruptions.
4 citations
,
December 2024 in “International Journal of Dermatology” Mohs micrographic surgery is more effective than surgical excision for treating pilomatrix carcinoma, with no recurrences.
9 citations
,
January 2011 in “American Journal of Dermatopathology” Pilomatrixoma involves abnormal hair keratin production and cell death, causing debris and cysts.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
36 citations
,
December 2004 in “British Journal of Dermatology” The cyst had unusual keratin spherules and resembled bone marrow.
46 citations
,
August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
28 citations
,
March 1993 in “Journal of Cell Science” Keratins K4 and K13 form stable dimers in mature esophageal cells, aiding cell stability.