21 citations
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December 2006 in “Archives of dermatology” A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
January 2025 in “Indian Journal of Experimental Biology” Carbon black nanoparticles can harm liver and kidney function in mice.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
October 2025 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.
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July 2014 in “Respirology Case Reports” A woman with Castleman's disease died from respiratory failure due to bronchiolitis obliterans.
1 citations
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January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
1 citations
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July 2014 in “Nepal journal of dermatology, venereology & leprology” Patients with chronic kidney disease on hemodialysis often have skin problems.
November 2023 in “International Journal of Trichology” A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
October 2024 in “Journal of the American Society of Nephrology” Some CKD patients' kidney function remains stable over time.
3 citations
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October 2001 in “British Journal of Ophthalmology” An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
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January 2001 in “Internal Medicine” Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
33 citations
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September 2020 in “Current Rheumatology Reports” Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
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August 2017 in “Journal of dermatological science” Sorafenib causes skin reactions by increasing the number and activity of skin mast cells.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
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January 2024 in “BMJ Case Reports” A woman had meningitis caused by mixed connective tissue disease, not an infection.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
December 2020 in “Innovation in aging” Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
77 citations
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August 2025 in “Signal Transduction and Targeted Therapy” Extracellular vesicles show promise for treating diseases but face challenges in development and regulation.
2 citations
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June 2017 in “Pediatric Dermatology” A critically ill boy experienced hair loss likely due to the stress of his medical treatments, but his hair regrew completely in 1.5 months.
1 citations
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December 2010 in “Elsevier eBooks” Cell transplantation faces challenges in genitourinary reconstruction, but alternative tissue sources and microencapsulation show promise.
January 2023 in “Vìsnik problem bìologìï ì medicini” Androgenic alopecia causes hair follicle degradation and skin restructuring, but some hair elements remain.
Extracellular vesicles could help treat hair loss by influencing hair growth cycles.
324 citations
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May 2002 in “Oncogene” October 2017 in “Data Archiving and Networked Services (DANS)” Current SLE classifications need refinement, and the complement system is a key therapeutic target.