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Wyszukujesz frazę ""Usher Syndromes"" wg kryterium: Temat


Tytuł:
Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
Autorzy:
Wang H; Department of Pediatric Neurology, Shengjing Hospital of China Medical University, Shenyang, P.R. China.
Huo L; Department of Pediatric Neurology, Shengjing Hospital of China Medical University, Shenyang, P.R. China.
Wang Y; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.
Sun W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.
Gu W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1779. Date of Electronic Publication: 2021 Aug 18.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosomes, Human, Pair 1*
Paternal Inheritance*
Uniparental Disomy*
Glycogen Storage Disease Type III/*complications
Glycogen Storage Disease Type III/*diagnosis
Usher Syndromes/*complications
Usher Syndromes/*diagnosis
Adult ; Biomarkers ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Glycogen Debranching Enzyme System/chemistry ; Glycogen Debranching Enzyme System/genetics ; Glycogen Storage Disease Type III/etiology ; Glycogen Storage Disease Type III/metabolism ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Sequence Analysis, DNA ; Structure-Activity Relationship ; Usher Syndromes/etiology ; Usher Syndromes/metabolism ; Exome Sequencing
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł:
Variant analysis of 92 Chinese Han families with hearing loss.
Autorzy:
Jin X; Graduate School of Peking Union Medical College, Beijing, 100730, China.; National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, 100081, China.
Huang S; Department of Otolaryngology Head and Neck Surgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, 100853, China.
An L; Graduate School of Peking Union Medical College, Beijing, 100730, China.; National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, 100081, China.
Zhang C; Graduate School of Peking Union Medical College, Beijing, 100730, China.; National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, 100081, China.; Center for Medical Genetics, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, 730050, Gansu, China.
Dai P; Department of Otolaryngology Head and Neck Surgery, Chinese People's Liberation Army (PLA) General Hospital, Beijing, 100853, China.
Gao H; Graduate School of Peking Union Medical College, Beijing, 100730, China. .; National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, 100081, China. .
Ma X; Graduate School of Peking Union Medical College, Beijing, 100730, China. .; National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, 100081, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2022 Jan 21; Vol. 15 (1), pp. 12. Date of Electronic Publication: 2022 Jan 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Deafness*/genetics
Usher Syndromes*
Asian People/genetics ; China ; High-Throughput Nucleotide Sequencing ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Membrane Proteins/genetics ; Mutation ; Neoplasm Proteins/genetics ; POU Domain Factors/genetics ; Pedigree ; Serine Endopeptidases/genetics
Czasopismo naukowe
Tytuł:
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A .
Autorzy:
Mansard L; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Baux D; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
Vaché C; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
Blanchet C; National Reference Centre for Inherited Sensory Diseases, University Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Oto Laryngology Department, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Meunier I; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.; National Reference Centre for Inherited Sensory Diseases, University Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Willems M; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.; Medical Genetics Department, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Faugère V; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Baudoin C; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Moclyn M; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Bianchi J; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Dollfus H; Reference Center for Rare Affections in Ophthalmology Genetics (CARGO), Institute of Medical Genetics of Alsace, University of Strasbourg, CHU Strasbourg, F-67000 Strasbourg, France.
Gilbert-Dussardier B; Medical Genetics Department, University of Poitiers, CHU Poitiers, F-86000 Poitiers, France.
Dupin-Deguine D; Medical Genetics Department, University of Toulouse, CHU Purpan, F-31000 Toulouse, France.
Bonneau D; Medical Genetics Department, University of Angers, CHU Angers, F-49000 Angers, France.
Drumare I; Vision and Neuro-Ophthalmology Department, University of Lille, CHU Lille, F-59000 Lille, France.
Odent S; Clinical Genetics Service, University Hospital, Genetics and Development Institute of Rennes IDGDR, UMR6290 University of Rennes, F-35000 Rennes, France.
Zanlonghi X; Center of Competence for Rare Diseases, Jules Verne Clinic, F-44000 Nantes, France.
Claustres M; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Koenig M; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.
Kalatzis V; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
Roux AF; Molecular Genetics Laboratory, University of Montpellier, CHU Montpellier, F-34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, F-34000 Montpellier, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 10; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 10.
Typ publikacji:
Clinical Trial; Journal Article
MeSH Terms:
Genotype*
Mutation, Missense*
RNA Splice Sites*
Usher Syndromes*/classification
Usher Syndromes*/genetics
Extracellular Matrix Proteins/*genetics
Myosin VIIa/*genetics
Adult ; Female ; France ; Humans ; Male
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł:
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Autorzy:
Igelman AD; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
Ku C; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
da Palma MM; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.; Department of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
Georgiou M; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Schiff ER; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Lam BL; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
Sankila EM; Department of Ophthalmology, Helsinki University Eye Hospital, Helsinki, Finland.
Ahn J; UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Ophthalmology, Seoul National University, College of Medicine, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul, South Korea.
Pyers L; UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Vincent A; Department of Ophthalmology and Vision Sciences, the Hospital for Sick Children, University of Toronto, Canada.; Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada.
Ferraz Sallum JM; Department of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Oh JK; Jonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.; College of Medicine, State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
Maldonado RS; Department of Ophthalmology and Visual Sciences, University of Kentucky, Lexington, KY, USA.
Ryu J; Jonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.
Tsang SH; Jonas Children's Vision Care, Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, New York, USA.; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Gorin MB; UCLA Stein Eye Institute, Division of Retinal Disorders and Ophthalmic Genetics, Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2021 Dec; Vol. 42 (6), pp. 664-673. Date of Electronic Publication: 2021 Jul 05.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Arylsulfatases/*genetics
Autoantigens/*genetics
Cell Cycle Proteins/*genetics
Codon, Nonsense/*genetics
Frameshift Mutation/*genetics
Monoacylglycerol Lipases/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Aged ; Cone-Rod Dystrophies/diagnosis ; Cone-Rod Dystrophies/genetics ; Female ; Genetic Testing ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/genetics ; Humans ; Male ; Middle Aged ; Multimodal Imaging ; Phenotype ; Retinal Pigment Epithelium/pathology ; Retrospective Studies ; Tomography, Optical Coherence ; Usher Syndromes/diagnostic imaging ; Visual Acuity/physiology ; Young Adult
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Autorzy:
Galbis-Martínez L; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Blanco-Kelly F; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
García-García G; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Ávila-Fernández A; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Jaijo T; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Fuster-García C; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Perea-Romero I; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Zurita-Muñoz O; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
Jimenez-Rolando B; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.
Carreño E; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.
García-Sandoval B; CIBERER, ISCIII, Madrid, Spain.; Department of Ophthalmology, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.
Millán JM; CIBERER, ISCIII, Madrid, Spain.; Unit of Genetics, University Hospital La Fe - IIS La Fe, Valencia, Spain.; Joint Unit for Rare Diseases IIS La Fe-CIPF, Valencia, Spain.
Ayuso C; Department of Genetics, University Hospital Fundacion Jimenez Diaz, IIS-FJD, UAM, Madrid, Spain.; CIBERER, ISCIII, Madrid, Spain.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Dec; Vol. 99 (8), pp. 922-930. Date of Electronic Publication: 2021 Feb 11.
Typ publikacji:
Journal Article; Multicenter Study
MeSH Terms:
Clinical Trials as Topic*
Mutation, Missense*
DNA/*genetics
Genetic Association Studies/*methods
Myosin VIIa/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Aged ; Child ; DNA Mutational Analysis ; Female ; Fluorescein Angiography/methods ; Fundus Oculi ; Genotype ; Humans ; Male ; Middle Aged ; Myosin VIIa/metabolism ; Pedigree ; Phenotype ; Retina/diagnostic imaging ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Usher Syndromes/diagnosis ; Young Adult
Czasopismo naukowe
Tytuł:
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Autorzy:
Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Bonnet C; Institut de l'audition, Institut Pasteur, Université de Paris, INSERM, 75012 Paris, France.
Kurtenbach A; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
Mohand-Said S; Institut de la Vision, Sorbonne Université, INSERM, CNRS, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France.
Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tuebingen, 72076 Tuebingen, Germany.; Center for Rare Eye Diseases, University of Tuebingen, 72076 Tuebingen, Germany.
Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy.
Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy.
Sahel JA; Institut de la Vision, Sorbonne Université, INSERM, CNRS, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France.; Department of Ophthalmology, Fondation Ophtalmologique Adolphe De Rothschild, 75019 Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Audo I; Institut de la Vision, Sorbonne Université, INSERM, CNRS, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France.
Zrenner E; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
Hawlina M; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Petit C; Institut de l'audition, Institut Pasteur, Université de Paris, INSERM, 75012 Paris, France.; Collège de France, 75231 Paris, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 26; Vol. 22 (19). Date of Electronic Publication: 2021 Sep 26.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Loss of Function Mutation*
Extracellular Matrix Proteins/*genetics
Receptors, G-Protein-Coupled/*genetics
Retinitis Pigmentosa/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Retinitis Pigmentosa/diagnostic imaging ; Retinitis Pigmentosa/epidemiology ; Tomography, Optical Coherence ; Usher Syndromes/diagnostic imaging ; Usher Syndromes/epidemiology
Czasopismo naukowe
Tytuł:
Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.
Autorzy:
Meng X; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.
Liu X; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.
Li Y; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.
Guo T; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.
Yang L; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2021 Jun; Vol. 99 (4), pp. e447-e460. Date of Electronic Publication: 2020 Oct 29.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Mutation*
DNA/*genetics
Extracellular Matrix Proteins/*genetics
Retinitis Pigmentosa/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Age of Onset ; Aged ; Child ; China/epidemiology ; DNA Mutational Analysis ; Electroretinography ; Extracellular Matrix Proteins/metabolism ; Female ; Genetic Association Studies ; Genotype ; Humans ; Male ; Middle Aged ; Morbidity/trends ; Pedigree ; Phenotype ; Retina/diagnostic imaging ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/epidemiology ; Retrospective Studies ; Tomography, Optical Coherence/methods ; Usher Syndromes/diagnosis ; Usher Syndromes/epidemiology ; Young Adult
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł:
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
Autorzy:
de Joya EM; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Colbert BM; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Medical Scientist Training Program, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Tang PC; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Lam BL; Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL 33136, USA.
Yang J; John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, UT 84132, USA.
Blanton SH; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Dykxhoorn DM; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Liu X; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 10; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 10.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Genetic Therapy*
Ear, Inner/*pathology
Hearing Loss/*therapy
Retinitis Pigmentosa/*therapy
Usher Syndromes/*therapy
Ear, Inner/growth & development ; Hearing Loss/etiology ; Hearing Loss/genetics ; Hearing Loss/pathology ; Humans ; Mutation/genetics ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/pathology ; Usher Syndromes/etiology ; Usher Syndromes/genetics ; Usher Syndromes/pathology
Czasopismo naukowe
Tytuł:
A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.
Autorzy:
Zhou C; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Prenatal Diagnosis Center of Sichuan Province, 20 Section 3 Renmin South Road, Chengdu, 610041, Sichuan, People's Republic of China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, People's Republic of China.
Xiao Y; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Prenatal Diagnosis Center of Sichuan Province, 20 Section 3 Renmin South Road, Chengdu, 610041, Sichuan, People's Republic of China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, People's Republic of China.
Xie H; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Prenatal Diagnosis Center of Sichuan Province, 20 Section 3 Renmin South Road, Chengdu, 610041, Sichuan, People's Republic of China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, People's Republic of China.
Liu S; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Prenatal Diagnosis Center of Sichuan Province, 20 Section 3 Renmin South Road, Chengdu, 610041, Sichuan, People's Republic of China. .; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, People's Republic of China. .
Wang J; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Prenatal Diagnosis Center of Sichuan Province, 20 Section 3 Renmin South Road, Chengdu, 610041, Sichuan, People's Republic of China. hhwj_.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, People's Republic of China. hhwj_.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2021 Aug 10; Vol. 14 (1), pp. 200. Date of Electronic Publication: 2021 Aug 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Usher Syndromes*
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł:
Usher Syndrome: Genetics of a Human Ciliopathy.
Autorzy:
Fuster-García C; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.; Biomedical Research Network for Rare Diseases, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
García-Bohórquez B; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.
Rodríguez-Muñoz A; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.
Aller E; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.; Biomedical Research Network for Rare Diseases, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
Jaijo T; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.; Biomedical Research Network for Rare Diseases, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.; Genetics Unit, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
Millán JM; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.; Biomedical Research Network for Rare Diseases, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
García-García G; Molecular, Cellular and Genomics Biomedicine Research Group, Instituto de Investigación Sanitaria La Fe (IIS La Fe), 46026 Valencia, Spain.; Unidad Mixta de Enfermedades Raras IIS La Fe-Centro de Investigación Príncipe Felipe, 46026 Valencia, Spain.; Biomedical Research Network for Rare Diseases, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 23; Vol. 22 (13). Date of Electronic Publication: 2021 Jun 23.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Mutation*
Usher Syndromes/*genetics
Animals ; Cadherin Related Proteins ; Cadherins/genetics ; Cell Cycle Proteins/genetics ; Ciliopathies/etiology ; Ciliopathies/pathology ; Cytoskeletal Proteins/genetics ; Disease Models, Animal ; Genetic Association Studies ; Humans ; Membrane Proteins/genetics ; Myosin VIIa/genetics ; Protein Interaction Maps/genetics ; Usher Syndromes/pathology
Czasopismo naukowe
Tytuł:
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Autorzy:
Reurink J; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Dockery A; The School of Genetics & Microbiology, Trinity College Dublin, D02 VF25 Dublin, Ireland.
Oziębło D; Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw/Kajetany, Poland.; Postgraduate School of Molecular Medicine, Medical University of Warsaw, 02-091 Warsaw, Poland.
Farrar GJ; The School of Genetics & Microbiology, Trinity College Dublin, D02 VF25 Dublin, Ireland.
Ołdak M; Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw/Kajetany, Poland.
Ten Brink JB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, The Netherlands.
Bergen AA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, The Netherlands.
Rinne T; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.
Yntema HG; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Pennings RJE; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
van den Born LI; The Rotterdam Eye Hospital, 3000 Rotterdam, The Netherlands.
Aben M; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.
Oostrik J; Department of Otorhinolaryngology, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Plomp AS; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, The Netherlands.
Khan MI; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.
van Wijk E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Roosing S; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
Kremer H; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, 6500 Nijmegen, The Netherlands.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 15; Vol. 22 (12). Date of Electronic Publication: 2021 Jun 15.
Typ publikacji:
Journal Article
MeSH Terms:
Cost-Benefit Analysis*
Sequence Analysis, DNA*
Exons/*genetics
Extracellular Matrix Proteins/*genetics
Molecular Probes/*metabolism
RNA Splice Sites/*genetics
Retinitis Pigmentosa/*genetics
Usher Syndromes/*genetics
Base Sequence ; DNA Copy Number Variations/genetics ; Gene Deletion ; Humans ; Polymorphism, Single Nucleotide/genetics ; Retinitis Pigmentosa/economics ; Usher Syndromes/economics
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł:
Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient.
Autorzy:
Wang K; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Statler B; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Ramos M; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
DeBenedictis MJ; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Babiuch A; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Yuan A; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Traboulsi EI; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 465-469. Date of Electronic Publication: 2020 Jul 15.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
Extracellular Matrix Proteins/*genetics
Multidrug Resistance-Associated Proteins/*genetics
Pseudoxanthoma Elasticum/*pathology
Usher Syndromes/*pathology
Adult ; Female ; Humans ; Prognosis ; Pseudoxanthoma Elasticum/complications ; Pseudoxanthoma Elasticum/genetics ; Retrospective Studies ; Usher Syndromes/complications ; Usher Syndromes/genetics
Czasopismo naukowe
Tytuł:
Atypical and ultra-rare Usher syndrome: a review.
Autorzy:
Nolen RM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Turriff AE; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Brewer CC; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Zalewski CK; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
King KA; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Wafa TT; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Griffith AJ; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 401-412. Date of Electronic Publication: 2020 May 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Intramural; Review
MeSH Terms:
Chromosome Aberrations*
Phenotype*
Rare Diseases/*genetics
Rare Diseases/*pathology
Usher Syndromes/*genetics
Usher Syndromes/*pathology
Animals ; Genotype ; Humans ; Rare Diseases/classification ; Usher Syndromes/classification
Czasopismo naukowe
Tytuł:
A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.
Autorzy:
Zheng C; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Ren X; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Xing D; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Bu S; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Wen D; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
He Y; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Zhang J; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Dong L; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Li X; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 501-504. Date of Electronic Publication: 2020 Aug 24.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Heterozygote*
Mutation, Missense*
Cadherins/*genetics
Usher Syndromes/*pathology
Adolescent ; Adult ; Cadherin Related Proteins ; Cadherins/metabolism ; Child, Preschool ; Humans ; Male ; Middle Aged ; Pedigree ; Prognosis ; Usher Syndromes/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Living with type I Usher syndrome: insights from patients and their parents.
Autorzy:
Roborel de Climens A; Clinical Outcomes Generation, Sanofi , Lyon, France.
Tugaut B; Patient-Centered Outcomes, ICON Plc , Lyon, France.
Piscopo A; Global HEVA Early Portfolio, Sanofi , Chilly-Mazarin, France.
Arnould B; Patient-Centered Outcomes, ICON Plc , Lyon, France.
Buggage R; Research and Development, Sanofi , Chilly-Mazarin, France.
Brun-Strang C; Global HEVA Early Portfolio, Sanofi , Chilly-Mazarin, France.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Jun; Vol. 41 (3), pp. 240-251. Date of Electronic Publication: 2020 May 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adaptation, Psychological*
Patient Reported Outcome Measures*
Activities of Daily Living/*psychology
Parents/*psychology
Usher Syndromes/*psychology
Adolescent ; Adult ; Aged ; Child ; Female ; Follow-Up Studies ; Humans ; Interviews as Topic ; Male ; Middle Aged ; Prognosis ; Qualitative Research ; Usher Syndromes/physiopathology ; Usher Syndromes/rehabilitation ; Young Adult
Czasopismo naukowe
Tytuł:
New compound heterozygous USH2A mutations in Usher syndrome.
Autorzy:
Kuang L; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.; School of Optometry, Shenzhen University, Shenzhen, China.
Chen Q; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.; School of Optometry, Shenzhen University, Shenzhen, China.
Gan R; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.; School of Optometry, Shenzhen University, Shenzhen, China.
Yan X; Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.; School of Optometry, Shenzhen University, Shenzhen, China.
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Źródło:
Acta ophthalmologica [Acta Ophthalmol] 2020 Feb; Vol. 98 (1), pp. e134-e135. Date of Electronic Publication: 2018 Nov 02.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Mutation*
DNA/*genetics
Extracellular Matrix Proteins/*genetics
Usher Syndromes/*genetics
DNA Mutational Analysis ; Electroretinography ; Extracellular Matrix Proteins/metabolism ; Female ; Humans ; Pedigree ; Retina/metabolism ; Retina/pathology ; Tomography, Optical Coherence ; Usher Syndromes/diagnosis ; Usher Syndromes/metabolism ; Young Adult
SCR Disease Name:
Usher syndrome, type 2A
Raport
Tytuł:
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Autorzy:
Stiff HA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Sloan-Heggen CM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
Ko A; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
Pfeifer WL; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Nishimura CJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Frees KL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Kamholz J; Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
Drack AV; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; The University of Iowa Institute for Vision Research, Iowa City, Iowa, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Apr; Vol. 41 (2), pp. 151-158. Date of Electronic Publication: 2020 Apr 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Markers*
Mutation*
Blindness/*diagnosis
Deafness/*diagnosis
Usher Syndromes/*diagnosis
Adolescent ; Adult ; Blindness/genetics ; Child ; Child, Preschool ; Deafness/genetics ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Usher Syndromes/genetics
Czasopismo naukowe
Tytuł:
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
Autorzy:
Samanta A; Institute of Developmental Biology and Neurobiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.; Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.
Stingl K; University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, 72074 Tübingen, Germany.; Center for Rare Eye Diseases, University of Tuebingen, 72076 Tübingen, Germany.
Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tübingen, Germany.
Ries J; Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.
Linnert J; Institute of Developmental Biology and Neurobiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.
Nagel-Wolfrum K; Institute of Developmental Biology and Neurobiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.; Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, 55122 Mainz, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2019 Dec 12; Vol. 20 (24). Date of Electronic Publication: 2019 Dec 12.
Typ publikacji:
Journal Article
MeSH Terms:
Codon, Nonsense*
Oxadiazoles/*therapeutic use
Usher Syndromes/*drug therapy
Usher Syndromes/*genetics
Cells, Cultured ; Extracellular Matrix Proteins/chemistry ; Extracellular Matrix Proteins/genetics ; Extracellular Matrix Proteins/metabolism ; Fibroblasts/drug effects ; Fibroblasts/metabolism ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Immunohistochemistry ; Models, Biological ; Mutation ; Oxadiazoles/pharmacology ; Protein Biosynthesis/drug effects ; Structure-Activity Relationship ; Usher Syndromes/diagnosis
SCR Disease Name:
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł:
Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.
Autorzy:
Wang L; Department of Ophthalmology, First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
Wei B; Department of Neurosurgery, China‑Japan Union Hospital, Jilin University, Changchun, Jilin 130033, P.R. China.
Fu X; Edmond H. Fischer Signal Transduction Laboratory, School of Life Sciences, Jilin University, Changchun, Jilin 130012, P.R. China.
Wang Y; Edmond H. Fischer Signal Transduction Laboratory, School of Life Sciences, Jilin University, Changchun, Jilin 130012, P.R. China.
Sui Y; Edmond H. Fischer Signal Transduction Laboratory, School of Life Sciences, Jilin University, Changchun, Jilin 130012, P.R. China.
Ma J; Edmond H. Fischer Signal Transduction Laboratory, School of Life Sciences, Jilin University, Changchun, Jilin 130012, P.R. China.
Gong X; Department of Opthalmology, Eye Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Hao J; Department of Ophthalmology, First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
Xing S; Edmond H. Fischer Signal Transduction Laboratory, School of Life Sciences, Jilin University, Changchun, Jilin 130012, P.R. China.
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Źródło:
Molecular medicine reports [Mol Med Rep] 2019 Dec; Vol. 20 (6), pp. 5111-5117. Date of Electronic Publication: 2019 Oct 07.
Typ publikacji:
Journal Article
MeSH Terms:
Disease Susceptibility*
Protein Interaction Domains and Motifs*
Extracellular Matrix Proteins/*metabolism
Microfilament Proteins/*metabolism
Usher Syndromes/*etiology
Usher Syndromes/*metabolism
Animals ; COS Cells ; Chlorocebus aethiops ; Extracellular Matrix Proteins/chemistry ; Extracellular Matrix Proteins/genetics ; Fluorescent Antibody Technique ; Gene Expression ; Humans ; Microfilament Proteins/chemistry ; Microfilament Proteins/genetics ; Protein Binding ; Protein Domains ; Protein Transport ; Recombinant Fusion Proteins/genetics ; Recombinant Fusion Proteins/metabolism ; Usher Syndromes/diagnosis
Czasopismo naukowe
Tytuł:
Subjective visual vertical in patients with Usher syndrome.
Autorzy:
Baghdadi M; EFEE - Center for children balance disorders evaluation. ENT Departement, Robert Debré Universitary Hospital , 48, Bld Sérurier, 75019 Paris, France.; UMR 7114 MoDyCo, CNRS-Université Paris Nanterre. Nanterre, France.
Caldani S; EFEE - Center for children balance disorders evaluation. ENT Departement, Robert Debré Universitary Hospital , 48, Bld Sérurier, 75019 Paris, France.; UMR 7114 MoDyCo, CNRS-Université Paris Nanterre. Nanterre, France.
Maudoux A; EFEE - Center for children balance disorders evaluation. ENT Departement, Robert Debré Universitary Hospital , 48, Bld Sérurier, 75019 Paris, France.
Audo I; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, Paris, France.
Bucci MP; EFEE - Center for children balance disorders evaluation. ENT Departement, Robert Debré Universitary Hospital , 48, Bld Sérurier, 75019 Paris, France.; UMR 7114 MoDyCo, CNRS-Université Paris Nanterre. Nanterre, France.
Wiener-Vacher SR; EFEE - Center for children balance disorders evaluation. ENT Departement, Robert Debré Universitary Hospital , 48, Bld Sérurier, 75019 Paris, France.
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Źródło:
Journal of vestibular research : equilibrium & orientation [J Vestib Res] 2020; Vol. 30 (4), pp. 275-282.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Orientation, Spatial/*physiology
Photic Stimulation/*methods
Space Perception/*physiology
Usher Syndromes/*physiopathology
Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Usher Syndromes/diagnosis ; Vestibule, Labyrinth/physiopathology ; Young Adult
Czasopismo naukowe

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