29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
111 citations
,
October 2008 in “Nature Genetics” Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
July 2010 in “British Journal of Dermatology” New hair regrowth model proposed, imiquimod found to kill skin cancer cells, T-cadherin loss linked to invasive skin cancer, no clear gene link to skin cancer after transplant, and study on children's hair loss shows male dominance and genetic ties.
13 citations
,
June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
22 citations
,
June 2017 in “Stem cell reports” PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
Lhx2 helps retinal cells respond to signals for eye development.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
43 citations
,
October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
May 2024 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A rare scalp tumor was removed from a 49-year-old woman, with a good outlook if benign but needing careful monitoring if malignant.
6 citations
,
June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
91 citations
,
July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
15 citations
,
October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
April 1977 in “Pediatric Research”
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
11 citations
,
March 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
April 1996 in “Journal of Dermatological Science” 14 citations
,
September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
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.
10 citations
,
February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.