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.
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.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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.
33 citations
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
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 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
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.
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.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
14 citations
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May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
13 citations
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January 2019 in “Endocrine journal” Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
11 citations
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July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
11 citations
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January 2013 in “Methods in molecular biology” The method allows for 3D tracking of hair follicle stem cells and shows they can regenerate hair for up to 180 days.
10 citations
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June 2011 in “Archives of Dermatology” Finasteride caused blisters on hands and feet.
9 citations
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November 2012 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
8 citations
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December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
7 citations
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February 2016 in “Dermatology and therapy” t-Flavanone helps improve male pattern hair loss by making hair roots stronger.
7 citations
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March 2007 in “International Journal of Dermatology” Targeting FGFR-1 with antisense oligonucleotides may help treat baldness by increasing hair follicle activity.