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A de novo missense mutation in MPP2 confers an increased risk of vogt–koyanagi–harada disease as shown by trio-based whole-exome sequencing

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Cellular & Molecular Immunology 2023年第11期20卷 1379-1392页

作者： Xianyang Liu Jiayu Meng Xingyun Liao Yusen Liu Qian Zhou Zongren Xu Shuming Yin Qingfeng Cao Guannan Su Siyuan He Wanqian Li Xiaotang Wang Guoqing Wang Dali Li Peizeng Yang Shengping Hou The First Affiliated Hospital of Chongqing Medical University ChongqingChina Chongqing Key Laboratory of Ophthalmology ChongqingChina Chongqing Eye Institute ChongqingChina Sichuan Provincial Key Laboratory for Human disease Gene Study Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChengdu611731China Department of Medical Oncology Chongqing University Cancer HospitalChongqing400030China Shanghai Frontiers Science Center of Genome Editing and Cell Therapy Shanghai Key Laboratory of Regulatory BiologySchool of Life SciencesEast China Normal UniversityShanghai200241China Beijing Institute of Ophthalmology Beijing Tongren Eye CenterBeijing Tongren HospitalCapital Medical UniversityBeijing Ophthalmology&Visual Sciences Key LaboratoryBeijing100730China

vogt–koyanagi–harada(VKH)disease is a leading cause of blindness in young and middle-aged people.However,the etiology of VKH disease remains unclear.Here,we performed the first trio-based whole-exome sequencing study,which enrolled 25 VKH patients and 50 controls,followed by a study of 2081 VKH patients from a Han Chinese population to uncover detrimental mutations.A total of 15 de novo mutations in VKH patients were identified,with one of the most important being the membrane palmitoylated protein 2(MPP2)p.K315N(MPP2-N315)mutation.The MPP2-N315 mutation was highly deleterious according to bioinformatic predictions.Additionally,this mutation appears rare,being absent from the 1000 Genome Project and Genome Aggregation Database,and it is highly conserved in 10 species,including humans and mice.Subsequent studies showed that pathological phenotypes and retinal vascular leakage were aggravated in MPP2-N315 mutation knock-in or MPP2-N315 adeno-associated virus-treated mice with experimental autoimmune uveitis(EAU).In vitro,we used clustered regularly interspaced short palindromic repeats(CRISPR‒Cas9)gene editing technology to delete intrinsic MPP2 before overexpressing wild-type MPP2 or MPP2-N315.Levels of cytokines,such as IL-1β,IL-17E,and vascular endothelial growth factor A,were increased,and barrier function was destroyed in the MPP2-N315 mutant ARPE19 cells.Mechanistically,the MPP2-N315 mutation had a stronger ability to directly bind to ANXA2 than MPP2-K315,as shown by LC‒MS/MS and Co-IP,and resulted in activation of the ERK3/IL-17E pathway.Overall,our results demonstrated that the MPP2-K315N mutation may increase susceptibility to VKH disease.

关键词： vogt-koyanagi-harada disease Whole exome sequencing De novo mutation Membrane palmitoylated protein 2 Annexin A2 ERK3/IL-17E pathway

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Spectrum and visual outcomes of vogt-koyanagi-harada disease in Argentina

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International Journal of Ophthalmology(English edition) 2017年第1期10卷 98-102页

作者： Veronica E.Giordano Ariel Schlaen Martin J.Guzman-Sanchez Cristobal Couto Department of Ophthalmology Inflammatory Eye Diseases ServiceHospital de Clinicas Jose de San MartinBuenos Aires C1120AARArgentina Department of Ophthalmology Oculoplastic ServiceAssociation for the Prevention of Blindness in MexicoVicente Garcia Torres 46San Lucas 04030CoyoacanMexico CityMexico

AIM： To review all cases of vogt-koyanagi-harada （VKH） disease in an Inflammatory Eye disease Service in Argentina and to describe the clinical profile and outcomes of treatment.METHODS： The records from patients with VKH disease between January 1980 and December 2008 were retrospectively analyzed for clinical profile, complications, and treatment. Patients were classified according to their initial treatment in group 1： high corticosteroid dose [≥1 mg/（kg·d）] within 2wk of illness onset; group 2： high corticosteroid dose, 2 to 4wk of onset and group 3： patients who received the high dose after 1mo of illness onset, patients who received lower oral doses than 1 mg/（kg·d） without regarding the time of beginning of the disease.RESULTS： A total of 210 eyes of 105 patients were included. The mean age at presentation was 32.6±13y （range： 10-74y）, and 86.7% were female. The mean duration of follow up was 144±96.6mo. Patients in the group 1 had significantly higher visual acuity than the other groups （P〈0.0001）, none had （loss of, or no） light perception at the end of follow up, whereas 24.7% patients in group 3 ended in light perception （P〈0.004）.CONCLUSION： Patients with early high dose corticosteroid treatment have better visual acuity and fewer complications. Proper timing in referral and treatment is critical for better visual outcome in VKH disease.

关键词： vogt-koyanagi-harada disease Argentine population clinical spectrum treatment

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vogt-koyanagi-harada disease in a 9-year-old girl

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Journal of Coastal Life Medicine 2015年第10期3卷 838-839页

作者： Lott Pooi Wah Syed Shoeb Ahmad Shuaibah Abdul Ghani Visvaraja A/L Subrayan Ophthalmology Department University of MalayaJalan University50603Kuala LumpurWilayah Persekutuan Kuala LumpurMalaysia Ophthalmology Department Karung Berkunci No.2029Jalan PenampangKota Kinabalu88560Kota KinabaluSabahMalaysia

Uveitis secondary to vogt-koyanagi-harada disease is rare in children.To the best of our knowledge,this patient is the first reported case of uveitis attributed to VKH in a child in Malaysia.A 9-year-old girl complained of non-resolving painful red eyes bilaterally for 3 months.Anterior segment of right eye showed mutton fat keratic precipitates,posterior synechiae and moderate anterior chamber reaction.Anterior segment of left eye revealed mutton fat keratic precipitates,band keratopathy on peripheral 3 and 9 o'clock of the cornea,iris bombe,iris nodule and seclusio pupillae.Fundus examination of right eye revealed subretinal deposit at superior and inferior arcades with flat retina while left eye showed hazy view.Patient was then noted to have poliosis and vitiligo after 1 month from initial presentation.Mild cataract and widespread atrophy of the retinal pigment epithelium accounting for the loss in vision remained.This case report is to highlight the importance of early recognition of paediatric vogt-koyanagi-harada and treating it aggressively to prevent the irreversible destructive sequalae of the disease.

关键词： vogt-koyanagi-harada disease Seclusion pupillae Vitiligo Poliosis

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vogt-koyanagi-harada综合征与克罗恩病:一种独特的关系

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Gastroenterology Report 2018年第1期6卷 65-67,I0003页

作者： Ahlem Souguir Aya Hammami Wafa Dahmeni Hanene Jaziri Imed Ben Mansour Ahlem Zayene Aida Ben Slama Mehdi Ksiaa Ahlem Brahem Salem Ajmi Ali Jmaa Department of Gastroenterology University Hospital SahloulSousseTunisia

vogt-koyanagi-harada disease(VKH)is a rare,multisystem disease of melanocyte-containing organs.It is characterized by diffuse,granulomatous inflammation involving various organs.It has been reported to occur in association with other autoimmune disorders.We report the case of a female patient who was diagnosed with VKH at the age of 4 years and who was treated with corticosteroids until the age of 16.Twenty years later,Crohn’s disease was diagnosed,with a severe flare-up.Three cases of VKH associated with ulcerative colitis have previously been reported anecdotally but,to our knowledge,this is the first case occurring in association to Crohn’s disease.

关键词： vogt-koyanagi-harada disease granulomatous inflammation Crohn’s disease

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