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35 documents found
1: Title: Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
Authors: Zobor, Ditta, et.al. .
Journal: Investigative ophthalmology & visual science (Invest Ophthalmol Vis Sci), Vol. 59 (7): 3041-3052, 2018 .
Snippet: Purpose: Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive mutations have been linked to autosomal recessive retinitis pigmentosa (arRP).
Affiliation: Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. Department of Ophthalmology and Optometry, Medical University of Vienna, Vienna, Austria. Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. Praxis für Humangenetik Tübingen & CeGaT GmbH, Tübingen, Tübingen, Germany. Institut de La Vision, INSERM Paris, France. Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany. .
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2: Title: Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Authors: Birtel, Johannes, et.al. .
Journal: Scientific reports (Sci Rep), Vol. 8 (1): 4824, 2018 .
Snippet: Further mutations were identified in CDHR1, GUCY2D, PROM1, CRX, GUCA1A, CERKL, MT-TL1, KIF11, RP1L1, MERTK, RDH5, CDH3, C1QTNF5, CRB1, JAG1, DRAM2, POC1B, NPHP1 and RPGR.
Affiliation: Department of Ophthalmology, University of Bonn, Bonn, Germany. Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany. Bioscientia Center for Human Genetics, Ingelheim, Germany. Institute of Human Genetics, University of Bonn, Bonn, Germany. Bioscientia Center for Human Genetics, Ingelheim, Germany. hanno.bolz@uk-koeln.de. Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany. hanno.bolz@uk-koeln.de. Department of Ophthalmology, University of Bonn, Bonn, Germany. study-enquiry@outlook.com. Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany. study-enquiry@outlook.com. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK. study-enquiry@outlook.com. .
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3: Title: Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy.
Authors: Kato, Yu, et.al. .
Journal: Investigative ophthalmology & visual science (Invest Ophthalmol Vis Sci), Vol. 58 (14): 6020-6029, 2017 .
Snippet: Purpose: To report the clinical characteristics of asymptomatic cases with RP1L1 gene mutations in four families with occult macular dystrophy (OMD).
Affiliation: Division of Vision Research, National Institute of Sensory Organs, Tokyo, Japan. Department of Ophthalmology, Tokyo Metropolitan Komagome Hospital, Tokyo, Japan. UCL Institute of Ophthalmology, London, United Kingdom. Department of Ophthalmology, Keio University, School of Medicine, Tokyo, Japan. Division of Ophthalmology and Visual Science, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, Tokyo, Japan. Aichi Medical University, Aichi, Japan. .
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4: Title: Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.
Authors: Qi, Yu-He, et.al. .
Journal: Frontiers in genetics (Front Genet), Vol. 8, 2017 .
Snippet: Results: Two heterozygous mutations-RP1L1 c.133 C > T (p.Arg45Trp), which is a hot spot for OMD, and ABCA4 c.6119 G > A (p.Arg2040Gln), which was identified in Stargardt's disease were found in three patients, but neither of the mutations was found in the unaffected individuals in the same family, who are phenotypically normal or in the normal control volunteers.
Affiliation: Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan UniversityShanghai, China. Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai MunicipalityShanghai, China. Key Laboratory of Myopia, Ministry of HealthShanghai, China. .
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5: Title: ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1.
Authors: Saffra, Norman, et.al. .
Journal: BMJ case reports (Bmj Case Rep), Vol. 2017, 2017 .
Snippet: The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene.
Affiliation: Ophthalmology, Maimonides Medical Center, Brooklyn, New York, USA. Department of Ophthalmology, New York University School of Medicine, New York, New York, USA. Department of Ophthalmology, Columbia University, New York, New York, USA. .
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6: Title: CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION.
Authors: Fu, Yun, et.al. .
Journal: Retinal cases & brief reports (Retin Cases Brief Rep), 2017 .
Snippet: Direct sequencing of the RP1L1 gene showed a c. 133C>T mutation, which confirmed the diagnosis of OMD genetically.
Affiliation: *College of Medicine, Chang Gung University, Taoyuan, Taiwan; and †Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan. .
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7: Title: Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.
Authors: Jensen, Victor L, et.al. .
Journal: PLoS genetics (Plos Genet), Vol. 12 (12): e1006469, 2016 .
Snippet: Using whole-organism RNA-Seq libraries, we discovered a signature expression profile highly enriched for transcripts of known ciliary proteins, including FAM-161 (FAM161A orthologue), CCDC-104 (CCDC104), and RPI-1 (RP1/RP1L1), which we confirm are cilium-localised in worms.
Affiliation: Department of Molecular Biology and Biochemistry, and Centre for Cell Biology, Development and Disease, Simon Fraser University, Burnaby, Canada. School of Biomolecular and Biomedical Science, University College Dublin, Belfield, Dublin, Ireland. .
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8: Title: Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Authors: Fujinami, Kaoru, et.al. .
Journal: Investigative ophthalmology & visual science (Invest Ophthalmol Vis Sci), Vol. 57 (11): 4837-46, 2016 .
Snippet: Statistical associations between the phenotype and genotypes based on the presence of pathogenic RP1L1 variants were investigated.
Affiliation: Laboratory of Visual Physiology Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan 2Department of Ophthalmology, Keio University School of Medicine, Shinjyuku-ku, Tokyo, Japan 3UCL Institute of Ophthalmology, London, United Kingdom. Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Chiba, Japan. Department of Ophthalmology, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Aichi, Japan. Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Mie, Japan. Department of Ophthalmology, The Jikei University School of Medicine, Nishi-Shimbashi, Minato-ku,Tokyo, Japan. Department of Ophthalmology, Teikyo University School of Medicine, Itabashi-ku, Tokyo, Japan. Department of Ophthalmology, Iwate Medical University School of Medicine, Morioka, Iwate, Japan 10Department of Ophthalmology, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Saitama, Japan. Department of Ophthalmology, Kinki University Faculty of Medicine, Osaka-Sayama City, Osaka, Japan. Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan. UCL Institute of Ophthalmology, London, United Kingdom. Aichi Medical University, Nagakute, Aichi, Japan. Laboratory of Visual Physiology Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan. .
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9: Title: OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES.
Authors: Agange, Negin, et.al. .
Journal: Retinal cases & brief reports (Retin Cases Brief Rep), Vol. 11 Suppl 1, 2017 Winter .
Snippet: PURPOSE: To report a case of occult macular dystrophy associated with mutations in the RP1L1 and KCNV2 genes.
Affiliation: *Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles Geffen School of Medicine, Los Angeles, California; and †Greater Los Angeles Veterans Administration Healthcare Center, Los Angeles, California. .
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10: Title: Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Authors: Liu, Yangfan P, et.al. .
Journal: Ophthalmic genetics (Ophthalmic Genet), Vol. 38 (2): 127-132, 2017 Mar-Apr .
Snippet: Functional testing in a zebrafish model for two key phenotypes of the affected person showed that the combinatorial suppression of rp1l1 and c2orf71l induced discrete pathology in terms of reduction of eye size with concomitant loss of rhodopsin in the photoreceptors, and disorganization of the cerebellum.
Affiliation: a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA. b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands. c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands. d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands. e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands. f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark. g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark. h Audiological Research Centre, Faculty of Medicine and Health , Örebro University , Örebro , Sweden. .
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11: Title: Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.
Authors: Ogino, Ken, et.al. .
Journal: Translational vision science & technology (Unknown Journal), Vol. 5 (2): 4, 2016 .
Snippet: RESULTS: All patients with PDE6B, PRPH2, and RPGR mutations, those 55 years old or younger with RP1L1 and USH2A mutations, and those 45 years old or younger with EYS and RHO mutations retained visual acuity of at least 0.1.
Affiliation: Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine, Kyoto, Japan. .
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12: Title: Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.
Authors: Piermarocchi, Stefano, et.al. .
Journal: Molecular medicine reports (Mol Med Report), Vol. 13 (3): 2308-12, 2016 .
Snippet: A p.Arg45Trp mutation in the RP1L1 gene was identified in the OMD patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient.
Affiliation: Department of Neuroscience, University of Padova, Padova IT‑35128, Italy. Research and Innovation Laboratories Srl, Padova IT‑35127, Italy. .
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13: Title: Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy.
Authors: Nakanishi, Ayami, et.al. .
Journal: Investigative ophthalmology & visual science (Invest Ophthalmol Vis Sci), Vol. 56 (12): 7243-9, 2015 .
Snippet: Three of them had a mutation (R45W) in RP1L1.
Affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan. Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan. National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. .
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14: Title: Whole genome and transcriptome sequencing of matched primary and peritoneal metastatic gastric carcinoma.
Authors: Zhang, J, et.al. .
Journal: Scientific reports (Sci Rep), Vol. 5, 2015 .
Snippet: We identified 27 mutated genes, of which 19 genes are reported in COSMIC database (ZNF208, CRNN, ATXN3, DCTN1, RP1L1, PRB4, PRB1, MUC4, HS6ST3, MUC17, JAM2, ITGAD, IREB2, IQUB, CORO1B, CCDC121, AKAP2, ACAN and ACADL), and eight genes have not previously been described in gastric cancer (CCDC178, ARMC4, TUBB6, PLIN4, PKLR, PDZD2, DMBT1and DAB1).Additionally,GPX4 and MPND in 19q13.3-13.4
Affiliation: Shanghai Institute of Digestive Surgery and Biobank of Gastrointestinal carcinoma, Lu Wan Qu, Shanghai, China. Collaborative Innovation Center of Systems Biomedicine, China. State Key Laboratory of Medical Genomics, Changsha City, Hunan Prov, China. Department of Pathology of Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 200025, Shanghai, China. Department of Radiology of Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 200025, Shanghai, China. Genome Center of WuXiAppTec (Shanghai) Co., Ltd. Shanghai, 200131, China. .
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15: Title: Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy.
Authors: Ziccardi, Lucia, et.al. .
Journal: American journal of ophthalmology (Am J Ophthalmol), Vol. 160 (2): 301-312.e6, 2015 .
Snippet: PURPOSE: To examine a female subject, her father, and a brother harboring a missense mutation of the retinitis pigmentosa 1-like 1 (RP1L1) gene, over 2 years of follow-up.
Affiliation: Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy. Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy; Department of Statistical Sciences, University of Rome "La Sapienza", Rome, Italy. Consiglio Nazionale delle Ricerche, Istituto di Processi Chimico-Fisici (CNR-IPCF), Messina, Italy; Vision Engineering Italy srl, Rome, Italy. Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy. MAGI's Lab srl, Rovereto, Italy. Fondazione G.B. Bietti - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy. Electronic address: mlombardo@visioeng.it. .
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16: Title: Lower PRDM2 expression is associated with dopamine-agonist resistance and tumor recurrence in prolactinomas.
Authors: Gao, Hua, et.al. .
Journal: BMC cancer, Vol. 15, 2015 .
Snippet: New resistant variants were identified in multiple genes including PRDM2, PRG4, MUC4, DSPP, DPCR1, RP1L1, MX2, POTEF, C1orf170, and KRTAP10-3.
Affiliation: Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. huagao@aliyun.com. Department of Neurosurgery, Provincial Hospital Affiliated to Anhui Medical University, Hefei, Anhui Province, China. flyingsnowwf@126.com. Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. 834054661@qq.com. Neurosurgical Department, The Affiliated Hospital of Medical College, Qingdao University, China; and Capital Medical University, Beijing, China. 834054661@qq.com. Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. lichuzhong@163.com. Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. fj79330@163.com. Neurosurgical Department of Beijing Tiantan Hospital, Beijing, China. bai-12@163.com. Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. caolei_163@163.com. Neurosurgical Department of Beijing Tiantan Hospital, Beijing, China. guisongbai@hotmail.com. Tsinghua University, Beijing, China. homerhong1017@163.com. Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. zyz2004520@yeah.net. .
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17: Title: [Genotype-phenotype correlation in patients with PRPH2-mutations].
Authors: Maertz, J, et.al. .
Journal: Klinische Monatsblätter für Augenheilkunde (Klin Monatsbl Augenheilkd), Vol. 232 (3): 266-74, 2015 .
Snippet: Blood samples were taken for DNA extraction and mutation analysis of PRPH2 and ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, RDH12, RP1L1, RPGR, TIMP3 was performed.
Affiliation: Augenklinik, Klinikum der Ludwig-Maximilians-Universität München. Genetics, CeGaT GmbH, Tübingen. .
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18: Title: Cone dystrophy in patient with homozygous RP1L1 mutation.
Authors: Kikuchi, Sachiko, et.al. .
Journal: BioMed research international (Biomed Res Int), Vol. 2015, 2015 .
Snippet: None of these variants cosegregated with the phenotype and were predicted to be benign reinforcing the putative pathogenicity of the RP1L1 homozygous mutation.
Affiliation: Department of Ophthalmology, Nippon Medical School, Chiba Hokuso Hospital, Inzai, Chiba 270-1694, Japan. INSERM, U968, 75012 Paris, France ; Sorbonne Universités, UPMC Université Paris 06, UMR_S 968, Institut de la Vision, 75012 Paris, France ; CNRS, UMR_7210, 75012 Paris, France. Honjo Daiichi Hospital, Yurihonjo, Akita 015-0834, Japan. INSERM, U968, 75012 Paris, France ; Sorbonne Universités, UPMC Université Paris 06, UMR_S 968, Institut de la Vision, 75012 Paris, France ; CNRS, UMR_7210, 75012 Paris, France ; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, 75012 Paris, France. Department of Ophthalmology, Nippon Medical School, Bunkyo-ku, Tokyo 113-8602, Japan. .
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19: Title: Occult macular dystrophy.
Authors: Miyake, Yozo, et.al. .
Journal: Japanese journal of ophthalmology (Jpn J Ophthalmol), Vol. 59 (2): 71-80, 2015 .
Snippet: Genetic analyses of OMD pedigrees have identified dominant mutations in the RP1L1 gene.
Affiliation: Aichi Medical University, Nagakute, Aichi, 480-1195, Japan. .
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20: Title: Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
Authors: Takahashi, Hidenori, et.al. .
Journal: Documenta ophthalmologica. Advances in ophthalmology (Doc Ophthalmol), Vol. 129 (1): 49-56, 2014 .
Snippet: Mutational analysis of the retinitis pigmentosa 1-like 1 (RP1L1) gene was performed by Sanger sequencing.
Affiliation: Department of Ophthalmology, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0431, Japan, takahah-tky@umin.ac.jp. .
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