4 citations
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January 2021 in “Journal of Clinical Medical Research” c-Kit is important for heart regeneration and cancer development.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
99 citations
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February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
1 citations
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November 2024 in “AME Medical Journal” Vitamin C deficiency can persist in high-risk patients despite supplementation.
21 citations
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January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
November 2023 in “Gastroenterology” A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
9 citations
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January 2015 in “Indian Dermatology Online Journal” Early diagnosis and treatment of Kaposi varicelliform eruption are crucial to prevent severe complications.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
21 citations
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May 2019 in “Pediatrics in review” People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
87 citations
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September 2006 in “Clinical Cancer Research” Protein Kinase C shows promise for cancer treatment, but more research is needed to develop effective inhibitors.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
May 2012 in “Research and reports in neonatology” The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
24 citations
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June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
5 citations
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January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
17 citations
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April 2004 in “Acta Clinica Belgica” UV light makes skin signs of lack of carotene and vitamin A more visible.
86 citations
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May 2005 in “Seminars in Arthritis and Rheumatism” Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
Children with chronic kidney disease often have skin, hair, and nail problems.
28 citations
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September 2014 in “Journal of Veterinary Internal Medicine” VDC-1101 shows potential as a treatment for canine cutaneous T-cell lymphoma.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
35 citations
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January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.