87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
28 citations
,
August 2005 in “Journal of Investigative Dermatology” TG5 helps maintain hair follicle health, while TG3 aids in hair shaft development.
1 citations
,
March 2022 in “Frontiers in Medicine” Regular endoscopic checks are crucial for Cronkhite-Canada syndrome patients to catch potential cancers early.
15 citations
,
September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
81 citations
,
February 2019 in “Experimental & Molecular Medicine” PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
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.
September 2005 in “Revue de Stomatologie et de Chirurgie Maxillo-faciale”
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
27 citations
,
December 2005 in “Journal of Cutaneous Pathology” The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
8 citations
,
March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
16 citations
,
July 2008 in “BMC Genomics” Alpha 6 + /MHCI - cells have stem cell traits and are similar to mouse hair follicle stem cells.
2 citations
,
July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
21 citations
,
January 2013 in “Clinical Endoscopy” First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
95 citations
,
September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
45 citations
,
March 1997 in “Journal of Investigative Dermatology”
January 2015 in “Current Opinion in Endocrinology, Diabetes and Obesity” Knocking out the FGF5 gene in sheep increased wool production and hair-follicle density.
51 citations
,
January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
September 2024 in “Journal of the American Academy of Dermatology” September 2024 in “Journal of the American Academy of Dermatology” Most U.S. keratinocyte carcinoma patients are older white males living in urban areas.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
14 citations
,
January 2005 in “Cell Stress and Chaperones” October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
June 1993 in “Current opinion in therapeutic patents” Hexahydrobenzo[f]quinolines are effective at blocking the enzyme 5α-reductase.