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.
51 citations,
October 2019 in “Cells” Baricitinib reduces inflammation and improves cell health in premature aging cells.
35 citations,
September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
9 citations,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
2 citations,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
64 citations,
March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
63 citations,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
55 citations,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
51 citations,
September 2008 in “Journal of Investigative Dermatology” Vitamin D receptor may help protect against UV-induced skin cancer.
19 citations,
February 2016 in “Journal of Biological Chemistry” KCNQ potassium channels help control the sensitivity of touch receptors in the skin.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
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.
10 citations,
November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
8 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
7 citations,
October 2011 in “BMC Cancer” Overexpression of HDGF in melanocytes does not cause cancer.
7 citations,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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.
5 citations,
March 2013 in “BMJ case reports” Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
5 citations,
September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
4 citations,
December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
4 citations,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
4 citations,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
2 citations,
July 2019 in “PeerJ” Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.
1 citations,
October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
1 citations,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
949 citations,
January 2001 in “Cell” Adult mouse skin contains stem cells that can create new hair, skin, and oil glands.
176 citations,
February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.