June 2022 in “Annals of Indian Academy of Neurology” A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
37 citations
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September 2010 in “Journal of Hospital Infection” Hair follicles in the nose may need better cleaning to prevent Staphylococcus aureus infections.
114 citations
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
76 citations
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January 1998 in “Mammalian Genome” 5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
March 2021 in “Research Square (Research Square)” Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
211 citations
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May 2013 in “Journal of Nutrition Health & Aging” MK-0773 safely increased muscle mass but did not improve muscle strength or function in elderly women with sarcopenia.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
1 citations
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February 2023 in “Tropical Journal of Pharmaceutical Research” Polysulfonic acid mucopolysaccharide can reduce skin scarring.
2 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
April 2018 in “Journal of Investigative Dermatology” Resveratrol activates the Nrf2 pathway in human skin, significantly increasing the production and distribution of the antioxidant glutathione.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
3 citations
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June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
November 2023 in “Journal of Pakistan Society of Internal Medicine.” Methotrexate is effective for rheumatoid arthritis but can cause side effects.
Some bacteria use arsenic compounds as antibiotics, and others have evolved resistance; a particular arsenic-based compound shows potential as a new antimalarial treatment.
2 citations
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January 2014 in “Medical Principles and Practice” The study suggests that people with rosacea are more likely to have chronic rhinosinusitis.
9 citations
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December 2023 in “Journal of Neuroimmune Pharmacology” NDP-MSH protects brain cells and reduces inflammation in Parkinson's disease by activating MC1R and involving Tregs.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
21 citations
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November 2019 in “Molecular & Cellular Proteomics” Citrullinated proteins from Porphyromonas gingivalis may contribute to rheumatoid arthritis.