44 citations
,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
3 citations
,
October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
30 citations
,
December 2021 in “Frontiers in Microbiology” Cepharanthine effectively reduces Herpes Simplex Virus Type 1 by blocking certain cell pathways and promoting cell death.
3 citations
,
January 2023 in “PloS one” Implanting hair-follicle stem cells in mice brains helped repair brain bleeding and reduced brain inflammation.
1 citations
,
April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
32 citations
,
July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” October 2018 in “The American journal of gastroenterology” Pembrolizumab can cause serious liver issues, requiring close monitoring and early treatment.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
April 2021 in “Journal of Investigative Dermatology” A trial showed that a new treatment is safe and effective for male pattern baldness, with most participants growing new hair.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
August 2019 in “Reactions Weekly” Daclizumab may cause psoriasis-like skin problems in multiple sclerosis patients.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
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.
2 citations
,
November 2015 in “Journal of Investigative Dermatology” RANKL improves the immune response against herpes simplex virus by enhancing T cell activation and could help develop better treatments or vaccines.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.