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May 2021 in “Annals of the rheumatic diseases” Tofacitinib is a promising treatment for children with rheumatic diseases.
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
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February 2023 in “Journal of Cosmetic Dermatology” October 2022 in “Journal of Cosmetic Dermatology” 1 citations
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April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
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August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
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January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
March 2016 in “Journal of the European Academy of Dermatology and Venereology” The April 2016 JEADV issue covered various dermatology topics, including psoriasis, psoriatic arthritis, mTOR inhibitors, autoimmune diseases, photodynamic therapy, viral DNA in skin diseases, chronic hand eczema, and female hair loss.
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
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December 2011 in “Potravinarstvo Slovak Journal of Food Sciences” Different jujube genotypes have varying sizes, colors, and tastes, with potential for growth in Slovakia.
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January 1980 in “Computer Physics Communications”
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The N-K GM Series offers highly selective, eco-friendly antimicrobials free for everyone.
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June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
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February 2025 in “Frontiers in Medicine” JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.
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January 2012 in “Juntendō Igaku/Juntendo igaku” A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
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