40 citations
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December 2012 in “PLoS ONE” Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
September 2021 in “Journal of the American Academy of Dermatology” CTCL patients can safely continue treatment during COVID-19 with proper safety measures.
November 2016 in “The Molecular Biology Society of Japan” July 2025 in “Journal of Investigative Dermatology”
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
2 citations
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December 2021 The research found that the properties of solid-state Electronic Circular Dichroism (ss-ECD) are influenced by the orientation of local crystals, which could help in examining and mapping chiral materials like pharmaceutical ingredients.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
11 citations
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October 2001 in “Dermatologic Clinics” The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
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January 2021 in “Journal of Clinical Medical Research” c-Kit is important for heart regeneration and cancer development.
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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.
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April 2023 in “Life” CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” FLCN helps control iron levels in cells.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
April 2024 in “Journal of the American Academy of Dermatology” Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.
21 citations
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
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May 2018 in “Psychiatry and Clinical Psychopharmacology” N-acetylcysteine may help treat trichotillomania.
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December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
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