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[PMID]:28687848
[Au] Autor:Tian L; Sun T; Xu K; Zhang X; Peng X; Li Y
[Ad] Endereço:Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China.
[Ti] Título:Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
[So] Source:Invest Ophthalmol Vis Sci;58(9):3366-3375, 2017 Jul 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Mutations in the BEST1 gene can cause Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The aim of the current study was to establish the BEST1 mutation spectrum in Chinese patients with BVMD and ARB and to describe the phenotypic characteristics of patients carrying BEST1 mutations. Methods: A total of 37 probands with a clinical diagnosis of BVMD (17 patients) or ARB (20 patients) were recruited for genetic analysis; of these, only 5 probands had a family history. All probands underwent detailed ophthalmic examinations. All coding exons and exon-intron boundaries of the BEST1 gene were screened by PCR-based DNA sequencing. In silico programs were used to analyze the pathogenicity of all the variants. Genomic DNA rearrangements of the BEST1 gene were identified by real-time quantitative PCR (RQ-PCR). Results: For patients with BVMD, single heterozygous BEST1 mutations were identified in 13 patients and compound heterozygous mutations were found in 3 patients. For patients with ARB, biallelic mutations were found in 13 probands and single mutant alleles in six patients. Overall, 36 disease-causing variants (20 novel mutations) of the BEST1 gene were identified, including 28 (77.8%) missense, 3 (8.3%) nonsense, 4 (11.1%) splicing effect, and 1 (2.8%) frameshift small duplication mutations. Conclusions: The mutation spectrum of the BEST1 gene in Chinese patients differed from those of Caucasian patients. Mutations that cause ARB differ from those that cause BVMD. BEST1 screening is important for precise diagnosis of BVMD or ARB.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Canais de Cloreto/genética
Oftalmopatias Hereditárias/genética
Proteínas do Olho/genética
Mutação
Doenças Retinianas/genética
Distrofia Macular Viteliforme/genética
[Mh] Termos MeSH secundário: Adulto
Bestrofinas
China
Análise Mutacional de DNA
Oftalmopatias Hereditárias/diagnóstico
Seres Humanos
Masculino
Programas de Rastreamento/métodos
Meia-Idade
Fenótipo
Reação em Cadeia da Polimerase
Doenças Retinianas/diagnóstico
Distrofia Macular Viteliforme/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170709
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.17-21999


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[PMID]:28187978
[Au] Autor:Qian CX; Charran D; Strong CR; Steffens TJ; Jayasundera T; Heckenlively JR
[Ad] Endereço:Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan; University of Montreal, Montreal, QC, Canada.
[Ti] Título:Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.
[So] Source:Ophthalmology;124(4):456-463, 2017 Apr.
[Is] ISSN:1549-4713
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To describe the anatomic changes and natural history of vitelliform lesions in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT). DESIGN: Prospective comparative case series. PARTICIPANTS: Twenty patients (40 eyes) with molecular confirmation of mutation in the BEST1 gene and 20 age-matched controls were included. METHODS: Color fundus photographs, fundus autofluorescence, and spectral-domain OCT were obtained, and these findings were compared between the 2 groups. Fifteen of the 20 patients with Best disease had more than 1 visit, and the imaging studies from each visit were compared with each other over time. MAIN OUTCOME MEASURES: Evolution of visual acuity and clinical stage of BVMD correlated to OCT measurement parameters, including retinal pigment epithelium (RPE) thickness, central macular thickness, and integrity of the ellipsoid zone. RESULTS: Patients with BVMD demonstrated progressive disorganization and thinning of the submacular RPE on OCT when compared with normal controls. Concurrent with the appearance of "egg-yolk lesions," the OCT showed a cleft in the outer retina, creating an apical and basal separation of retinal layers. The apical complex of the vitelliform lesion eventually degenerated and flattened. Patients with such lesions nevertheless maintained reasonable visual acuity into the advanced vitelleruptive stages despite the disruption of normal anatomic changes. CONCLUSIONS: Our study suggests that in BVMD, subretinal vitelliform material accumulation leads to a clear separation of the outer retinal layers. The level at which this cleft forms is a topic of discussion and interest, with the most likely levels of least resistance being the interdigitation zone or between the RPE and the Bruch's membrane. It is possible that RPE may continue to form a preserved photoreceptor-RPE complex that provides essential nutrients to the photoreceptors and in turn helps patients maintain better than expected visual acuity for years.
[Mh] Termos MeSH primário: Epitélio Pigmentado da Retina/diagnóstico por imagem
Tomografia de Coerência Óptica
Distrofia Macular Viteliforme/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Bestrofinas
Criança
Pré-Escolar
Canais de Cloreto/genética
Análise Mutacional de DNA
Proteínas do Olho/genética
Feminino
Angiofluoresceinografia
Seres Humanos
Masculino
Meia-Idade
Imagem Multimodal
Mutação
Imagem Óptica
Estudos Prospectivos
Epitélio Pigmentado da Retina/patologia
Tomografia de Coerência Óptica/métodos
Acuidade Visual
Distrofia Macular Viteliforme/genética
Distrofia Macular Viteliforme/patologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170212
[St] Status:MEDLINE


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[PMID]:28056057
[Au] Autor:Zhong Y; Guo X; Xiao H; Luo J; Zuo C; Huang X; Huang J; Mi L; Zhang Q; Liu X
[Ad] Endereço:State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, China.
[Ti] Título:Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.
[So] Source:PLoS One;12(1):e0169395, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Trabeculectomy has been regarded as a mainstay of initial treatment in eyes of angle closure glaucoma (ACG) with peripheral anterior synechia > 180° in the Chinese population while its efficacy in secondary ACG with BEST1 gene mutation remains unclear. We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB). METHODS: In this retrospective case series study, 8 secondary ACG patients with ARB and their 4 recruited family members underwent a thorough ophthalmic examination including best-corrected visual acuity, Goldmann applanation tonometry, gonioscopy, and fundus examinations. Ultrasound biomicroscopy, optical coherence tomography (OCT), ultrasound A-scan, B-scan, electro-oculography (EOG), Humphrey perimetry, fundus photography, fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were also performed. Blood samples were obtained in the patients and their available family members to analyze the variants of the BEST1 gene. Trabeculectomy was performed in the 8 patients (15 eyes). RESULTS: The age of onset varied from 13 to 38 years. The average axial length (AL) of the affected eyes was 21.82 ± 0.92 mm and the average anterior chamber depth (ACD) was 2.19 ± 0.29 mm. There was marked axial shallowing of the anterior chamber in all 15 eyes after trabeculectomy, and was not improved with potent mydriatics. The IOP was elevated in 3 eyes. Variable degree of yellowish subretinal deposits was observed in the posterior retina. The FFA showed punctuate or patched hyperfluorescence suggesting retinal pigment epithelium impairment. The ICGA demonstrated dilatation of choroidal vessels. The OCT revealed diffused neuroretinal detachment in the posterior and midperipheral retina, with intraretinal fluid collections, and hyperreflective subretinal accumulations. The average subfoveal choroidal thickness of the patients was 382.36 ± 80.09 µm. All the patients and enrolled family members carried mutation in BEST1 gene. CONCLUSIONS: ARB is a rare condition with fundus manifestations mimicking various diseases. Careful discrimination should be taken to exclude any secondary causes for ACG before treatment. Concerning the high incidence of postoperative shallow anterior chamber, selection of filtering surgery should be very careful in these patients.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Proteínas do Olho/genética
Glaucoma de Ângulo Fechado/genética
Glaucoma de Ângulo Fechado/cirurgia
Trabeculectomia/métodos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Bestrofinas
Feminino
Glaucoma de Ângulo Fechado/patologia
Seres Humanos
Masculino
Mutação/genética
Miotonia Congênita/genética
Miotonia Congênita/patologia
Miotonia Congênita/cirurgia
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170106
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0169395


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[PMID]:28005406
[Au] Autor:Ramkumar HL; Gudiseva HV; Kishaba KT; Suk JJ; Verma R; Tadimeti K; Thorson JA; Ayyagari R
[Ad] Endereço:1 Shiley Eye Institute, Jacobs Retina Center, University of California , San Diego, La Jolla, California.
[Ti] Título:A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
[So] Source:Genet Test Mol Biomarkers;21(2):66-73, 2017 Feb.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIM: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. DNA was isolated, and all exons in the gene of interest were analyzed along with 20 base pairs of flanking intronic sequence. Genetic testing was most often performed on ABCA4, CTRP5, ELOV4, BEST1, CRB1, and PRPH2. Pathogenicity of novel sequence changes was predicted by PolyPhen2 and sorting intolerant from tolerant (SIFT). RESULTS: Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Analysis confirmed 12 (34%) of individuals as carriers of familial mutations associated with IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3 (1). CONCLUSIONS: Targeted analysis of clinically suspected genes in 225 subjects resulted in a positive molecular diagnosis in 26% of patients with dominant IRD and 59% of patients with recessive IRD. Novel damaging mutations were identified in four genes. Single gene screening is not an ideal method for diagnostic testing given the phenotypic and genetic heterogeneity among IRD cases. High-throughput sequencing of all genes associated with retinal degeneration may be more efficient for molecular diagnosis.
[Mh] Termos MeSH primário: Distrofias Retinianas/diagnóstico
Distrofias Retinianas/genética
[Mh] Termos MeSH secundário: Transportadores de Cassetes de Ligação de ATP/genética
Transportadores de Cassetes de Ligação de ATP/metabolismo
Bestrofinas
Canais de Cloreto/genética
Canais de Cloreto/metabolismo
Análise Mutacional de DNA/métodos
Éxons
Proteínas do Olho/genética
Proteínas do Olho/metabolismo
Feminino
Estudos de Associação Genética
Aconselhamento Genético
Testes Genéticos/métodos
Heterozigoto
Seres Humanos
Masculino
Técnicas de Diagnóstico Molecular/métodos
Mutação
Periferinas/genética
Periferinas/metabolismo
Retinite Pigmentosa/genética
Inibidor Tecidual de Metaloproteinase-3/genética
Inibidor Tecidual de Metaloproteinase-3/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ABCA4 protein, human); 0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins); 0 (Peripherins); 0 (RDS protein, human); 0 (TIMP3 protein, human); 0 (Tissue Inhibitor of Metalloproteinase-3)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161223
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0251


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[PMID]:27768912
[Au] Autor:Mladenova K; Petrova SD; Andreeva TD; Moskova-Doumanova V; Topouzova-Hristova T; Kalvachev Y; Balashev K; Bhattacharya SS; Chakarova C; Lalchev Z; Doumanov JA
[Ad] Endereço:Sofia University "St. Kliment Ohridski", Department of Biochemistry, Faculty of Biology, 8 Dragan Tzankov str., 1164 Sofia, Bulgaria.
[Ti] Título:Effects of Ca ions on bestrophin-1 surface films.
[So] Source:Colloids Surf B Biointerfaces;149:226-232, 2017 Jan 01.
[Is] ISSN:1873-4367
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Human bestrophin-1 (hBest1) is a transmembrane calcium-activated chloride channel protein - member of the bestrophin family of anion channels, predominantly expressed in the membrane of retinal pigment epithelium (RPE) cells. Mutations in the protein cause ocular diseases, named Bestrophinopathies. Here, we present the first Fourier transform infrared (FTIR) study of the secondary structure elements of hBest1, π/A isotherms and hysteresis, Brewster angle microscopy (BAM) and atomic force microscopy (AFM) visualization of the aggregation state of protein molecules dispersed as Langmuir and Langmuir-Blodgett films. The secondary structure of hBest1 consists predominantly of 3 -helices (27.2%), α-helixes (16.3%), ß-turns and loops (32.2%). AFM images of hBest1 suggest approximate lateral dimensions of 100×160Å and 75Å height. Binding of calcium ions (Ca ) induces conformational changes in the protein secondary structure leading to assembly of protein molecules and changes in molecular and macro-organization of hBest1 in monolayers. These data provide basic information needed in pursuit of molecular mechanisms underlying retinal and other pathologies linked to this protein.
[Mh] Termos MeSH primário: Cálcio/química
Canais de Cloreto/química
Proteínas do Olho/química
Membranas Artificiais
[Mh] Termos MeSH secundário: Animais
Bestrofinas
Cátions Bivalentes
Canais de Cloreto/genética
Cães
Proteínas do Olho/genética
Expressão Gênica
Seres Humanos
Células Madin Darby de Rim Canino
Mutação
Estrutura Secundária de Proteína
Proteínas Recombinantes/química
Proteínas Recombinantes/genética
Propriedades de Superfície
Termodinâmica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Cations, Divalent); 0 (Chloride Channels); 0 (Eye Proteins); 0 (Membranes, Artificial); 0 (Recombinant Proteins); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161022
[St] Status:MEDLINE


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[PMID]:27031371
[Au] Autor:Liu J; Xuan Y; Zhang Y; Liu W; Xu G
[Ad] Endereço:a Department of Ophthalmology , Eye & ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration , Shanghai , China.
[Ti] Título:Bilateral macular holes and a new onset vitelliform lesion in Best disease.
[So] Source:Ophthalmic Genet;38(1):79-82, 2017 Jan-Feb.
[Is] ISSN:1744-5094
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Best vitelliform macular dystrophy (BVMD) is an autosomal dominant hereditary retinal disease caused by BEST1 gene mutations. Macular hole is a rare complication of BVMD. We are the first to report a BVMD case with bilateral macular holes and a new onset vitelliform lesion after a vitrectomy surgery. MATERIALS AND METHODS: A woman with a history of BVMD suffered from a 1-year vision loss in both eyes. Complete ophthalmologic examinations and BEST1 gene screening were performed on the patient. RESULTS: Ophthalmoscopic examinations revealed bilateral macular holes with atrophic photoreceptors and retinal pigment epithelium (RPE). A disease-causing BEST1 mutation N296S (c.887A>G) was detected. A vitrectomy surgery with internal limiting membrane (ILM) peeling and gas tamponade was performed on the right eye. The macular hole closed and maintained stable for 1 year. A new extramacular vitelliform lesion was observed during the follow-up. CONCLUSIONS: Macular hole is an unusual but severe complication in the end stage of BVMD as the macular thinning is accompanied with vitreous traction. A vitrectomy surgery is effective to close the hole while further study is required to elucidate the pathophysiology of macular hole formation and the new vitelliform lesion in such a case.
[Mh] Termos MeSH primário: Perfurações Retinianas/etiologia
Distrofia Macular Viteliforme/complicações
Distrofia Macular Viteliforme/diagnóstico
[Mh] Termos MeSH secundário: Bestrofinas
Canais de Cloreto/genética
Tamponamento Interno
Membrana Epirretiniana/cirurgia
Proteínas do Olho/genética
Feminino
Seguimentos
Seres Humanos
Meia-Idade
Polimorfismo de Nucleotídeo Único
Recidiva
Perfurações Retinianas/diagnóstico
Perfurações Retinianas/cirurgia
Hexafluoreto de Enxofre/administração & dosagem
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
Distrofia Macular Viteliforme/genética
Distrofia Macular Viteliforme/cirurgia
Vitrectomia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins); WS7LR3I1D6 (Sulfur Hexafluoride)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160401
[St] Status:MEDLINE
[do] DOI:10.3109/13816810.2015.1126614


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[PMID]:27558156
[Au] Autor:Kamikawa A; Ichii O; Sakazaki J; Ishikawa T
[Ad] Endereço:Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro, Japan; and akami@obihiro.ac.jp.
[Ti] Título:Ca2+-activated Cl- channel currents in mammary secretory cells from lactating mouse.
[So] Source:Am J Physiol Cell Physiol;311(5):C808-C819, 2016 Nov 01.
[Is] ISSN:1522-1563
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Cl secretion via Ca -activated Cl channel (CaCC) is critical for fluid secretion in exocrine glands like the salivary gland. Also in the mammary gland, it has been hypothesized that CaCC plays an important role in the secretion of Cl and aqueous phase of milk. However, there has been no evidence for the functional expression of CaCC in native mammary secretory (MS) cells of lactating animals. We therefore assessed membrane current in MS cells that were freshly isolated from lactating mice using whole cell patch-clamp techniques. In MS cells, we detected CaCC current that exhibited the following characteristics: 1) Ca -dependent activation at the concentrations of submicromolar range; 2) voltage-dependent activation; 3) slow kinetics for activation and deactivation; 4) outward rectification of the steady-state current; 5) anion permeability in the sequence of I > NO > Br > Cl >> glutamate; 6) inhibition by Cl channel blockers (niflumic acid, DIDS, and CaCCinh-A01). These characteristics of native CaCC current were similar to reported characteristics of heterologously expressed TMEM16A. RT-PCR analyses showed the expression of multiple CaCC channels including TMEM16A, Best1, and Best3 in the mammary glands of lactating mice. Immunohistochemical staining revealed the localization of TMEM16A protein at the apical membrane of the MS cells. Collectively, our data strongly suggest that MS cells functionally express CaCC, which is at least partly constituted by TMEM16A. The CaCC such as TMEM16A at the apical membrane of the MS cells may influence the quantity and/or quality of milk.
[Mh] Termos MeSH primário: Cálcio/metabolismo
Canais de Cloreto/metabolismo
Lactação/metabolismo
Glândulas Mamárias Humanas/metabolismo
[Mh] Termos MeSH secundário: Animais
Ânions/metabolismo
Anoctamina-1
Bestrofinas
Proteínas do Olho/metabolismo
Feminino
Seres Humanos
Canais Iônicos/metabolismo
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Permeabilidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ANO1 protein, mouse); 0 (Anions); 0 (Anoctamin-1); 0 (Best1 protein, mouse); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins); 0 (Ion Channels); 0 (Vmd2L3 protein, mouse); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160826
[St] Status:MEDLINE
[do] DOI:10.1152/ajpcell.00050.2016


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[PMID]:27287821
[Au] Autor:Arora R; Khan K; Kasilian ML; Strauss RW; Holder GE; Robson AG; Thompson DA; Moore AT; Michaelides M
[Ad] Endereço:Moorfields Eye Hospital, London, United Kingdom; Salisbury District Hospital, Salisbury, United Kingdom.
[Ti] Título:Unilateral BEST1-Associated Retinopathy.
[So] Source:Am J Ophthalmol;169:24-32, 2016 Sep.
[Is] ISSN:1879-1891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation. DESIGN: Retrospective observational case series. SETTING: Moorfields Eye Hospital and Great Ormond Street Hospital, London (United Kingdom). PATIENTS: Five patients (10 eyes) with uniocular manifestation of BEST1 mutation causing Best disease were ascertained retrospectively from the clinical and genetic databases. MAIN OUTCOME MEASURES: Patients had full ophthalmologic examination, color fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, and detailed electrophysiological assessment. Genetic testing was performed. RESULTS: All cases had a clinical appearance typical of and consistent with Best disease at various stages, except that the presentation was unilateral. The reduced electrooculogram light rise was bilateral and in the context of normal electroretinograms therefore indicates generalized dysfunction at the level of the retinal pigment epithelium. CONCLUSIONS: Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular. The clinical and electrophysiological features described assist targeted mutational screening and alert to the potential diagnosis even when there is an atypical unilateral presentation.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Proteínas do Olho/genética
Mutação
Distrofia Macular Viteliforme/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Bestrofinas
Criança
Eletroculografia
Eletrorretinografia
Éxons/genética
Feminino
Angiofluoresceinografia
Seres Humanos
Masculino
Reação em Cadeia da Polimerase
Estudos Retrospectivos
Tomografia de Coerência Óptica
Acuidade Visual/fisiologia
Distrofia Macular Viteliforme/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160612
[St] Status:MEDLINE


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[PMID]:27193166
[Au] Autor:Moshfegh Y; Velez G; Li Y; Bassuk AG; Mahajan VB; Tsang SH
[Ad] Endereço:Barbara & Donald Jonas Laboratory of Regenerative Medicine, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
[Ti] Título:BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
[So] Source:Hum Mol Genet;25(13):2672-2680, 2016 Jul 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Bestrophin1 (BEST1) is expressed in human retinal pigment epithelium (RPE) and mutations in the BEST1 gene commonly cause retinal dysfunction and macular degeneration. BEST1 is presumed to assemble into a calcium-activated chloride channel and be involved in chloride transport but there is no direct evidence in live human RPE cells to support this idea. To test whether BEST1 functions as a chloride channel in living tissue, BEST1-mutant RPE (R218H, L234P, A243T) were generated from patient-derived induced pluripotent stem cells and compared with wild-type RPE in a retinal environment, using a biosensor that visualizes calcium-induced chloride ion flux in the cell. Calcium stimulation elicited chloride ion export in normal RPE but not in RPE derived from three patients with BEST1 mutations. These data, along with three-dimensional modeling, provide evidence that BEST1 assembles into a key calcium-sensing chloride channel in human RPE.
[Mh] Termos MeSH primário: Canais de Cloreto/genética
Canais de Cloreto/metabolismo
Proteínas do Olho/genética
Proteínas do Olho/metabolismo
[Mh] Termos MeSH secundário: Bestrofinas
Sinalização do Cálcio
Cloretos
Seres Humanos
Células-Tronco Pluripotentes Induzidas/metabolismo
Mutação
Epitélio Pigmentado da Retina/metabolismo
Distrofia Macular Viteliforme/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Chlorides); 0 (Eye Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160520
[St] Status:MEDLINE


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Texto completo
[PMID]:27163236
[Au] Autor:Nakanishi A; Ueno S; Hayashi T; Katagiri S; Kominami T; Ito Y; Gekka T; Masuda Y; Tsuneoka H; Shinoda K; Hirakata A; Inoue M; Fujinami K; Tsunoda K; Iwata T; Terasaki H
[Ad] Endereço:Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
[Ti] Título:Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
[So] Source:Am J Ophthalmol;168:86-94, 2016 Aug.
[Is] ISSN:1879-1891
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To report the clinical and genetic findings of 9 Japanese patients with autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective, multicenter observational case series. METHODS: Nine ARB patients from 7 unrelated Japanese families that were examined in 3 institutions in Japan were studied. A series of ophthalmic examinations including fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, electrooculography (EOG), electroretinography, and the results of genetic analysis were reviewed. RESULTS: Genetic analyses identified 7 pathogenic variants in BEST1 including 2 novel variants, c.478G>C (p.A160P) and c.948+1delG. Homozygous variants were found in 4 families and compound heterozygous variants were found in 3 families. Two patients were diagnosed as ARB only after the whole exome sequencing analyses. The Arden ratio of the EOG was less than 1.5 in all 7 patients tested. Vitelliform lesions typical for Best vitelliform macular dystrophy were not seen in any of the patients. Seven patients shared some of the previously described features of ARB: subretinal deposits, extensive subretinal fluid, and cystoid macular edema (CME). However, the other 2 patients with severe retinal degeneration lacked these features. Focal choroidal excavations were present bilaterally in 2 patients. One case had a marked reduction of the CME and expansion of subretinal deposits over an 8-year of follow-up period. CONCLUSIONS: Japanese ARB patients had some but not all of the previously described features. Genetic analyses are essential to diagnose ARB correctly in consequence of considerable phenotypic variations.
[Mh] Termos MeSH primário: Oftalmopatias Hereditárias
Doenças Retinianas
[Mh] Termos MeSH secundário: Adolescente
Adulto
Grupo com Ancestrais do Continente Asiático
Bestrofinas
Canais de Cloreto/genética
Análise Mutacional de DNA
Oftalmopatias Hereditárias/genética
Oftalmopatias Hereditárias/patologia
Oftalmopatias Hereditárias/fisiopatologia
Proteínas do Olho/genética
Feminino
Seres Humanos
Japão
Edema Macular/patologia
Masculino
Meia-Idade
Mutação
Fenótipo
Doenças Retinianas/genética
Doenças Retinianas/patologia
Doenças Retinianas/fisiopatologia
Estudos Retrospectivos
Líquido Sub-Retiniano/metabolismo
Acuidade Visual
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (BEST1 protein, human); 0 (Bestrophins); 0 (Chloride Channels); 0 (Eye Proteins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE



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