1 citations
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January 2014 in “Elsevier eBooks” Melanocytes produce melanin; their defects cause vitiligo and hair graying, with treatments available for vitiligo.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
44 citations
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January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
29 citations
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October 2016 in “Cell death and differentiation” ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
20 citations
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June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
33 citations
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
158 citations
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August 2011 in “Reviews in endocrine and metabolic disorders” Vitamin D and its receptor regulate skin functions like cell growth, immunity, hair cycle, and tumor prevention.
140 citations
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April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
86 citations
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December 2001 in “Experimental dermatology” Mutant mice help researchers understand hair growth and related genetic factors.
76 citations
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May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
74 citations
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June 2018 in “Cell death and disease” Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
70 citations
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March 2008 in “Mechanisms of Ageing and Development” Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
63 citations
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May 2011 in “Clinical cancer research” The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
62 citations
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March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
60 citations
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February 2013 in “Cell reports” The balance between androgen receptor and p53 is crucial for sebaceous gland differentiation.
50 citations
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April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
48 citations
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July 2008 in “Acta Biochimica et Biophysica Sinica” Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
43 citations
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November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
40 citations
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March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
40 citations
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June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
36 citations
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August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
32 citations
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February 2017 in “Oncotarget” Cellular senescence has both cancer-blocking and cancer-promoting effects, and targeting senescent cells may improve health and lifespan.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.