36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
October 2023 in “Journal of cystic fibrosis”
Psychosis can be an early sign of neuropsychiatric lupus, treatable with tailored medication.
January 2022 in “Figshare” lncRNA MTC helps goat skin cells grow and may aid hair growth by controlling proteins linked to cell growth.
6 citations
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May 2013 in “PloS one” The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
91 citations
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December 2019 in “The EMBO Journal” NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
11 citations
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February 2012 in “Pediatrics in Review” Early and aggressive treatment with individualized care plans is crucial for managing pediatric systemic lupus erythematosus.
December 2024 in “European journal of medical research”
April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
June 2020 in “Jurnal Penyakit Dalam Indonesia” Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
January 2020 in “SSRN Electronic Journal” Different autoantibody groups in pediatric SLE are linked to specific symptoms and disease outcomes.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
January 2016 in “Institutional Repositories DataBase (IRDB)” Sebaceous glands help study fatty acid transporters and binding proteins.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
January 2024 in “Faculty of 1000 Research Ltd” Digital gangrene can be an unusual first sign of late-onset lupus.
2 citations
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October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
3 citations
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December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
May 2025 in “The Journal of Rheumatology” A rare lupus case in Bangladesh improved with specific treatment.
1 citations
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May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
119 citations
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September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
April 2026 in “International Journal of Drug Delivery Technology” Lactobacillus acidophilus substances can kill and stop the spread of cervical cancer cells.
October 2024 in “Journal of the Endocrine Society” Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.