15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
36 citations
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October 2021 in “Frontiers in Endocrinology” Insulin resistance and high male hormone levels are major causes of Polycystic Ovary Syndrome.
4 citations
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March 2024 in “Forensic Sciences Research” Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
2 citations
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May 2024 in “Journal of science and medicine in sport” Exercise is crucial for managing polycystic ovary syndrome (PCOS) and improving overall health.
180 citations
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February 2023 in “Journal of Chemical Information and Modeling” Chemistry42 effectively creates and optimizes new molecules for drug discovery.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
131 citations
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September 2017 in “Molecular and Cellular Endocrinology” The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
130 citations
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April 2003 in “Journal of Investigative Dermatology” Four specific keratins in hair follicles help understand hair structure and function.
122 citations
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January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
86 citations
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April 2009 in “Journal of anatomy” Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
73 citations
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January 2002 in “Journal of Investigative Dermatology” Epidermal stem cells don't use gap junctions to communicate.
72 citations
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November 2017 in “Journal of developmental biology” The Hedgehog signaling pathway is important for skin and hair growth and can lead to cancer if it doesn't work right.
72 citations
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August 2014 in “Genome Biology and Evolution” Feather diversity is due to different keratin gene combinations, and chickens can help study human keratin diseases.
40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
23 citations
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January 2023 in “Journal of Developmental Biology” Reptile skin protects and prevents water loss, helping them adapt to land.
1 citations
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January 1989 in “Springer eBooks” April 2026 in “Journal of Investigative Dermatology” Mechanotransduction aids healthy wound healing by promoting specific fibroblasts.
February 2025 in “Animals” Understanding proteins in skin structures like claws and hair is crucial for future research.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
May 2020 in “Authorea (Authorea)” Olfactory receptors found outside the nose may offer new treatments for diseases like cancer and help in wound healing and hair growth.
46 citations
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June 2015 in “American Journal Of Pathology” Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
16 citations
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September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
13 citations
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April 2022 in “Journal of Mind and Medical Sciences” IBD treatment is complex and requires personalized approaches due to varying patient responses.
4 citations
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October 2022 in “Nutrients” Personalized diets, like the Mediterranean Diet and low carb diets, can help manage PCOS symptoms in obese women, and probiotics may enhance weight loss and improve metabolic health. More research is needed to find the best diet strategies.
1 citations
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May 2025 in “Biomolecules” Synthetic biology can improve sesquiterpenol production by using innovative microbial strategies.