48 citations
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May 2019 in “Genome Biology” Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
June 2024 in “International Journal of Nanomedicine” CRISPR/Cas9 has improved precision and control but still faces clinical challenges.
October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
165 citations
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January 2006 in “Molecular Medicine” Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
62 citations
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December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.
37 citations
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July 2002 in “Archives of Pathology & Laboratory Medicine” Tyrosinase and gp100 proteins can help diagnose and treat melanoma.
30 citations
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November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
8 citations
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January 2017 in “Journal of Biological Chemistry” Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
7 citations
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June 2020 in “npj regenerative medicine” GDNF helps grow hair and heal skin wounds by acting on hair stem cells.
3 citations
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March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
October 2022 in “Biomedicines” Finasteride in male rats causes liver and metabolic issues in their offspring.
79 citations
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February 2009 in “Human Genetics” 26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
2 citations
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May 2023 in “International Journal of Molecular Sciences” The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
53 citations
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October 2003 in “Developmental Biology” Too much Sonic Hedgehog protein stops hair growth in embryos.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
39 citations
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
10 citations
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August 2023 in “Animals” SLC45A2 and GPNMB genes help control chicken feather color by promoting melanin.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
489 citations
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November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
346 citations
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April 2020 in “Frontiers in Oncology” EMT and metabolic pathways help cancer cells resist treatment and spread.
226 citations
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May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
224 citations
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February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” ERG increases SOX9, promoting prostate cancer growth and invasion.
133 citations
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June 2016 in “Nature Neuroscience” Zeb2 is crucial for nerve repair by controlling Schwann cell function.