September 2019 in “Journal of Investigative Dermatology” EGFR and MEK inhibitors reduce PD-L1 in hair follicles, possibly causing inflammation.
5 citations
,
June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Activating mitophagy may help manage a key immune response involved in the hair loss condition alopecia areata.
July 2024 in “Journal of Investigative Dermatology”
47 citations
,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
141 citations
,
May 2007 in “Cancer Research” CD34 is crucial for skin tumor development in mice.
112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
3 citations
,
January 2017 in “Acta Dermato Venereologica” Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
6 citations
,
July 2020 in “The Kaohsiung Journal of Medical Sciences” Inhibiting the PI3K/Akt pathway may help prevent radiation-induced liver injury.
43 citations
,
February 1999 in “Biochemical Journal” Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
40 citations
,
November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.
1 citations
,
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
28 citations
,
February 2007 in “Cancer Research” Blocking certain proteins in mouse skin can reduce and shrink skin tumors.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
November 2024 in “Journal of Investigative Dermatology” Targeting PTEN can improve healing in venous leg ulcers.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
1 citations
,
October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
233 citations
,
July 1997 in “PubMed” High levels of ornithine decarboxylase can cause tumors in mouse skin.
December 2023 in “Journal of Thoracic Disease” Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.
April 2023 in “Journal of Investigative Dermatology” An automated system can predict death risk in thin melanoma by analyzing immune cells.
13 citations
,
November 2009 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
6 citations
,
November 2021 in “Frontiers in immunology” STAT3 signaling is important for healthy skin and hair follicles, and its disruption can lead to skin conditions like atopic dermatitis.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
68 citations
,
September 2003 in “British Journal of Dermatology” Shrinking skin cancer increases the chance of cancer in nearby lymph nodes.