7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
24 citations
,
March 2022 in “Frontiers in plant science” Plant root hair growth is mainly controlled by hormones like auxin and ethylene, which promote growth, while others like brassinosteroid inhibit it.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
245 citations
,
January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
June 2017 in “Journal of clinical and investigative dermatology” Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
Hairlessness in mammals is caused by combined changes in genes and regulatory regions.
43 citations
,
February 2013 in “Developmental dynamics” Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
130 citations
,
November 2017 in “Frontiers in Immunology” The conclusion is that Treg-targeted therapies have potential, but more knowledge of Treg biology is needed for effective treatments, including for cancer.
37 citations
,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
1 citations
,
November 2025 in “Clinical and Experimental Medicine” lncRNAs are important for understanding and treating skin diseases.
188 citations
,
October 2014 in “Thyroid” Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.
42 citations
,
November 2002 in “The American journal of pathology” Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
157 citations
,
October 2003 in “Development” AXR3 and SHY2 genes control the growth and timing of root hair development in plants.
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.
610 citations
,
April 2014 in “Nature Reviews Immunology” The document concludes that understanding how the skin's immune system and inflammation work is complex and requires more research to improve treatments for skin diseases.
438 citations
,
October 2010 in “Oncogene” Keratins help protect cells, aid in cancer diagnosis, and influence cancer behavior and treatment.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
138 citations
,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
100 citations
,
March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.