April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
CCC1 is essential for ion balance and proper plant cell function.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
16 citations
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December 2021 in “Journal of Integrative Neuroscience” miR-325-3p can slow down brain tumor growth by targeting FOXM1.
3 citations
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January 1984
8 citations
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May 2024 in “PLoS Biology” Gap junctions help control feather pattern formation in chickens.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” GATA6 is important for maintaining and differentiating cells in a key area of human skin.
12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
50 citations
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August 2019 in “Cell Communication and Signaling” NFAT5 triggers atherosclerosis under stress by activating inflammation in blood vessels.
18 citations
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December 1992 in “Journal of Cutaneous Pathology” Skin tumors and normal skin structures have different lectin-binding patterns.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
January 2025 in “Cellular and Molecular Biology” The PIP5K1A gene helps cashmere growth in goats by promoting cell proliferation, and melatonin boosts its expression.
3 citations
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September 2022 in “European Journal of Dermatology” This study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene present in all patients, confirming it as a pathogenic variant. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also lead to the disease.
9 citations
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March 2017 in “Journal of Visualized Experiments” The assay effectively identifies compounds that affect immune cell activation.
11 citations
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January 2016 in “Molecular and Cellular Neuroscience” Chronic ethanol increases certain brain receptor levels, influenced by steroids and protein changes.
April 2023 in “Journal of Investigative Dermatology” AL136131.3 slows hair growth by affecting energy processes in hair loss.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
7 citations
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October 2023 in “BMC Genomics” Noncoding RNAs help determine cashmere quality in goats.
33 citations
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January 2008 in “Journal of Molecular Neuroscience” 7 citations
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May 1993 in “Journal of the European Academy of Dermatology and Venereology” Cell adhesion molecules are important in the development of certain skin diseases.
July 2025 in “Scientific Reports” Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
March 2026 in “Stem Cell Reviews and Reports” 83 citations
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May 2021 in “Biomolecules” The 5/G hydrogel effectively improves diabetic wound healing.
39 citations
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May 2014 in “Frontiers in Pharmacology” Special immune cells called Tregs can help prevent lung scarring by blocking a specific growth factor.
September 2023 in “Plant journal” A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
January 2013 in “Shiyong yixue zazhi” Astraglus polysaccharide may help hair growth by boosting follicle stem cell activity.