188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
40 citations,
June 2021 in “Clinical, cosmetic and investigational dermatology” JAK inhibitors show promise in effectively treating hair loss from alopecia areata.
8 citations,
December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mouse models help understand alopecia areata and find treatments.
104 citations,
May 2019 in “F1000Research” Losing weight, fixing varicoceles, and using advanced sperm selection methods improve male infertility treatment outcomes.
64 citations,
March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
60 citations,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
51 citations,
September 2008 in “Journal of Investigative Dermatology” Vitamin D receptor may help protect against UV-induced skin cancer.
48 citations,
January 2005 in “Treatments in Endocrinology” 33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
11 citations,
February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
10 citations,
August 2013 in “Experimental Dermatology” Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
7 citations,
June 2017 in “Gene” Overexpression of FGF5s makes Chinese Merino sheep grow longer and heavier wool.
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.
1 citations,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
1 citations,
January 2018 in “Indian dermatology online journal” The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
1 citations,
October 2016 in “Molecular biology of the cell” The author felt excited and honored to receive the 2016 Early Career Life Scientist Award.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
Some dermatologists in Saudi Arabia prescribe Tofacitinib for hair loss, but many don't due to its unavailability and safety concerns.
355 citations,
January 2017 in “Journal of the American Academy of Dermatology” JAK inhibitors show promise for treating skin conditions like eczema, hair loss, and psoriasis.
221 citations,
July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
127 citations,
January 2008 in “PloS one” Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
88 citations,
August 2019 in “Frontiers in immunology” Tyrosine kinases are important in skin autoimmune diseases and could be targets for new treatments.
75 citations,
March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
63 citations,
July 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” JAK inhibitors can effectively reverse hair loss in people with alopecia areata.
56 citations,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.