26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
53 citations
,
October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
March 2026 in “Nature Communications” Genetic factors, skin barrier, immune function, and obesity influence risk of fungal skin infections.
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
7 citations
,
May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
April 2017 in “Journal of Investigative Dermatology” Sweat glands and hair follicles are determined by opposing signals, with BMPs promoting sweat glands and blocking BMPs leading to hair follicles.
29 citations
,
March 2023 in “European Journal of Human Genetics” New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
16 citations
,
June 2019 in “Journal of Investigative Dermatology” miR-21 increases skin aging by reducing SATB1, affecting skin cell function.
114 citations
,
July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
43 citations
,
January 1999 in “Endocrinology” Cortisol increases a specific protein in bone cells, which may help explain its negative effects on bone.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
75 citations
,
March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
47 citations
,
January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
1 citations
,
July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
7 citations
,
February 2020 in “Clinical and Experimental Dermatology” Both HLA-B and MICA are independently linked to alopecia areata.
1 citations
,
May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
20 citations
,
July 2013 in “International Journal of Dermatology” Obesity increases the risk of skin infections, inflammatory conditions, and melanoma, but not basal cell carcinoma.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
8 citations
,
April 1997 in “Experimental Dermatology” hHbl gene is active in hair shaft cells and some pilomatricomas.
321 citations
,
January 2012 in “Cell stem cell” TGF-β2 helps activate hair follicle stem cells by counteracting BMP signals.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
9 citations
,
October 2013 in “Journal of Investigative Dermatology” The OVOL1 gene, controlled by β-catenin, is crucial for creating hair follicles.
May 2023 in “The Journal of Immunology” BST2 is a key marker for hair loss disease alopecia areata.
September 2017 in “Journal of Investigative Dermatology” The Siah1 and Siah2 genes are active in mouse skin development and hair growth, especially right after birth.