100 citations
,
May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
4 citations
,
January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
38 citations
,
April 2017 in “PLOS Genetics” GRHL3 is important for controlling gene activity in skin cells during different stages of their development.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
137 citations
,
October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
January 2012 in “Zhongguo shouyi xuebao” Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.
24 citations
,
May 2009 in “The FASEB Journal” Akt2 and SGK3 are both important for normal hair growth and development.
January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
76 citations
,
June 2018 in “EMBO Reports” YAP and TAZ proteins are necessary for the development of two types of skin cancer.
20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” KAP8.2 gene variations affect cashmere quality in goats.
13 citations
,
May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
318 citations
,
October 1998 in “The Journal of Cell Biology” Keratin 17 is important for skin development and may help define skin cell types.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
29 citations
,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
13 citations
,
June 2007 in “Journal of Dermatological Science” Researchers created a cell line to study hair growth and found specific genes affected by dihydrotestosterone.
17 citations
,
February 2015 in “Experimental Dermatology” Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
1 citations
,
July 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Keratin gene expression helps understand different types of skin cells and their development, and should be used carefully as biological markers.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
19 citations
,
April 2024 in “Nature Cell Biology” April 2012 in “Cancer Research” Stat3 influences keratinocyte stem cell behavior, affecting differentiation and migration.