11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
26 citations
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
Scalp psoriasis inflammation is mainly caused by bacteria-related triggers.
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March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
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.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
May 2011 in “Value in Health” CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
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September 1983 in “Archives of dermatology” The new synthetic retinoid RO 13-6298 effectively treated severe psoriasis at low doses with manageable side effects.
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September 2016 in “Neuropharmacology” Activating TSPO helps protect the retina from damage caused by high eye pressure in glaucoma.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
December 2024 in “Journal of Cosmetic Dermatology” ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
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June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
47 citations
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August 2016 in “American Journal Of Pathology” Fibroblast changes in systemic sclerosis may help understand disease severity and treatment.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
32 citations
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April 2014 in “American Journal of Clinical Dermatology” People with psoriasis are more likely to have Metabolic Syndrome than those without psoriasis.
November 2021 in “International Journal of Trichology” Low PON1 levels may indicate and predict the severity of hair loss.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
30 citations
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
July 2023 in “Journal of exploratory research in pharmacology” A new psoriasis lotion called "Psorisbye" improved symptoms in a patient within one week.
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January 2024 in “Journal of Investigative Dermatology” Corticosteroids can reduce scarring in acne keloidalis by targeting specific cells.