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Retinal layers and symptoms and inflammation in schizophrenia.

Autor: Carriello MA; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil. mcarriello@yahoo.com.br., Costa DFB; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Alvim PHP; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Pestana MC; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Bicudo DDS; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Gomes EMP; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Coelho TA; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Biava PJ; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Berlitz VG; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Bianchini AJ; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Shiokawa A; Retina and Vitreous Ophthalmology-Curitiba, Curitiba, Brazil., Shiokawa N; Retina and Vitreous Ophthalmology-Curitiba, Curitiba, Brazil., Sato MT; Retina and Vitreous Ophthalmology-Curitiba, Curitiba, Brazil.; Department of Ophthalmology, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil., Massuda R; Psychotic Disorders Research Program, Department of Psychiatry, Universidade Federal Do Paraná-UFPR, Curitiba, Brazil.

Publikováno v: European archives of psychiatry and clinical neuroscience [Eur Arch Psychiatry Clin Neurosci] 2024 Aug; Vol. 274 (5), pp. 1115-1124. Date of Electronic Publication: 2023 Mar 16.

Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D.

Autor: Bortolini M; Department of Veterinary Medicine, Federal University of Paraná, Curitiba, Puerto Rico, Brazil., Winkler PA; Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, USA., Moreno JCD; Department of Veterinary Medicine, Federal University of Paraná, Curitiba, Puerto Rico, Brazil., Sato MT; Department of Ophthalmology, Federal University of Paraná, Curitiba, Paraná, USA., Guareschi BLV; Department of Veterinary Medicine, Federal University of Paraná, Curitiba, Puerto Rico, Brazil., Petersen-Jones SM; Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan, USA., Montiani-Ferreira F; Department of Veterinary Medicine, Federal University of Paraná, Curitiba, Puerto Rico, Brazil.

Publikováno v: Veterinary ophthalmology [Vet Ophthalmol] 2023 Nov; Vol. 26 (6), pp. 532-547. Date of Electronic Publication: 2023 Mar 05.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Autor: Tenney AP; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA., Di Gioia SA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chan WM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Garnai SJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Ray T; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kosicki M; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robson CD; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang Z; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Collins TE; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Gelber A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Fujiwara Y; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Varshney A; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Lek M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Warburton PE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Center for Advanced Genomics Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Van Ryzin C; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lehky TJ; EMG Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Zalewski C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., King KA; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., Brewer CC; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, NIH, Bethesda, MD, USA., Facio FM; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Invitae Corporation, San Francisco, CA, USA., Narisu N; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bonnycastle LL; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Swift A; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Chines PS; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bell JL; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Mohan S; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, and University of Melbourne, Melbourne, Victoria, Australia.; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia., Elder JE; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia., Demer JL; Stein Eye Institute and Departments of Ophthalmology, Neurology, and Bioengineering, University of California, Los Angeles, Los Angeles, CA, USA., Torres A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Medical Center, Boston University Aram V. Chobanian & Edward Avedisian School of Medicine, Boston, MA, USA., Rachid E; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Al-Haddad C; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Boustany RM; Pediatrics & Adolescent Medicine/Biochemistry & Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon., Mackey DA; Lions Eye Institute, University of Western Australia, Perth, Australia., Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Fenollar-Cortés M; Unidad de Genética Clínica, Instituto de Medicina del Laboratorio. IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Fradin M; Service de Génétique Clinique, CHU Rennes, Centre Labellisé Anomalies du Développement, Rennes, France., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands., Padberg GW; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., Raskin S; Centro de Aconselhamento e Laboratório Genetika, Curitiba, Paraná, Brazil., Sato MT; Department of Ophthalmology & Otorhinolaryngology, Federal University of Paraná, Curitiba, Paraná, Brazil., Orkin SH; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Parker SCJ; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Hadlock TA; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Collins FS; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Pennacchio LA; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Engle EC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.

Publikováno v: Nature genetics [Nat Genet] 2023 Jul; Vol. 55 (7), pp. 1149-1163. Date of Electronic Publication: 2023 Jun 29.

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.

Autor: Stingl K; Centre for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany., Baumann B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany., De Angeli P; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany., Vincent A; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada., Héon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada., Cordonnier M; Department of Ophthalmology, Hôpital Erasme, Cliniques Universitaires de Bruxelles, Université Libre de Bruxelles, 1070 Bruxelles, Belgium., De Baere E; Center for Medical Genetics, Ghent University Hospital, Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium., Raskin S; Laboratório Genetika, Curitiba 80730-180, Brazil., Sato MT; Department of Ophthalmology & Otorhinolaryngology, Federal University of Paraná, Curitiba 80060-900, Brazil.; Retina and Vitreo Consulting Eye Clinic, Curitiba 80530-010, Brazil., Shiokawa N; Retina and Vitreo Consulting Eye Clinic, Curitiba 80530-010, Brazil., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany., Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, 72076 Tübingen, Germany.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2022 Jun 20; Vol. 23 (12). Date of Electronic Publication: 2022 Jun 20.