218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
174 citations
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November 2016 in “Cell stem cell” Different types of skin cells have unique genetic markers that affect how likely they are to spread cancer.
150 citations
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November 2007 in “The Journal of Clinical Endocrinology and Metabolism” About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
131 citations
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November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin grafts on mice can cause an immune response leading to hair loss, useful for studying human hair loss conditions.
122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
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.
95 citations
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July 2010 in “Genes & development” Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
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.
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.
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.
51 citations
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June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
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.
43 citations
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November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
41 citations
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April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
40 citations
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June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
37 citations
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August 2014 in “Journal of experimental botany” A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
34 citations
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March 2012 in “Circulation” Bridging anticoagulation may raise post-surgery bleeding risks.
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.
26 citations
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February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
25 citations
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September 2018 in “Molecular Biology of the Cell” Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
25 citations
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September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
21 citations
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April 1982 in “Genetics Research” Mice with the naked gene have missing or abnormal hair cells.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
19 citations
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July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
17 citations
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September 2022 in “Genes & Genomics” Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
16 citations
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April 2018 in “Animal Genetics” Researchers found two genes that may explain why some Casertana pigs don't have hair.