April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
81 citations
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February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
7 citations
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February 2024 in “The Journal of Physiology” Reduced plakoglobin and steroid abuse increase the risk of heart rhythm issues.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
79 citations
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December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.
4 citations
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November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
1 citations
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November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
5 citations
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October 2017 in “Cellular Reprogramming” Inhibiting HSP90 increases cell adaptability and survival under stress.
43 citations
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December 2020 in “PLOS Genetics” New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
March 2024 in “Dermatology and therapy (Internet)” Genetic factors could lead to personalized treatments for hair loss.
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.
16 citations
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November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
February 2024 in “Clinical, Cosmetic and Investigational Dermatology” Certain fats in the blood are linked to an increased risk of male pattern baldness.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
13 citations
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April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
11 citations
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July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
1 citations
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May 2025 in “BMC Genomics” lncRNAs may help control cashmere goat hair growth by responding to light changes.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
December 2024 in “Frontiers in Genetics” EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
July 2024 in “Russian Journal of Child Neurology” Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.