32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
75 citations
,
April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
184 citations
,
September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
215 citations
,
November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
37 citations
,
May 1998 in “Journal of Dermatological Science” Basal cell carcinoma shows keratin patterns similar to undifferentiated hair follicle cells.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
18 citations
,
June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
May 2018 in “Journal of Investigative Dermatology” Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
20 citations
,
July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
67 citations
,
December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
18 citations
,
September 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
January 2009 in “China Animal Husbandry & Veterinary Medicine” The B2C promoter works in sheep cells but not in mouse embryos.
46 citations
,
June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” A new one-step test can quickly identify skin cancer during surgery.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
September 2016 in “Journal of dermatological science” TSC2 is crucial for proper hair follicle development and patterning.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
January 2015 in “DukeSpace (Duke University)” Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
58 citations
,
July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
26 citations
,
July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.