Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.

Autor: Xu L; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Ruddick WN; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Bolch SN; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Klingeborn M; McLaughlin Research Institute, Great Falls, Montana; Helen Wills Neuroscience Institute, Berkeley, California., Dyka FM; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Kulkarni MM; Division of Experimental Retinal Therapies, Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Simpson CP; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Beltran WA; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina., Bowes Rickman C; Helen Wills Neuroscience Institute, Berkeley, California; Department of Cell Biology, Duke University Medical Center, Durham, North Carolina., Smith WC; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida., Dinculescu A; Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida. Electronic address: astra@ufl.edu.

Publikováno v: The American journal of pathology [Am J Pathol] 2023 Nov; Vol. 193 (11), pp. 1706-1720. Date of Electronic Publication: 2022 Oct 31.

Clarin-1 expression in adult mouse and human retina highlights a role of Müller glia in Usher syndrome.

Autor: Xu L; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Bolch SN; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Santiago CP; Solomon H Snyder Department of Neuroscience, Johns Hopkins University, School of Medicine, Baltimore, MD, USA., Dyka FM; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Akil O; Department of Otolaryngology-HNS, University of California, San Francisco, CA, USA., Lobanova ES; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Wang Y; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, USA., Martemyanov KA; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, USA., Hauswirth WW; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Smith WC; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Handa JT; Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Blackshaw S; Solomon H Snyder Department of Neuroscience, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.; Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Human Systems Biology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Kavli Neuroscience Discovery Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ash JD; Department of Ophthalmology, University of Florida, Gainesville, FL, USA., Dinculescu A; Department of Ophthalmology, University of Florida, Gainesville, FL, USA.

Publikováno v: The Journal of pathology [J Pathol] 2020 Feb; Vol. 250 (2), pp. 195-204. Date of Electronic Publication: 2019 Dec 04.

A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.

Autor: Bolch SN; Department of Ophthalmology, University of Florida, Gainesville, Florida, United States of America., Dugger DR; Department of Ophthalmology, University of Florida, Gainesville, Florida, United States of America., Chong T; Department of Ophthalmology, University of Florida, Gainesville, Florida, United States of America., McDowell JH; Department of Ophthalmology, University of Florida, Gainesville, Florida, United States of America., Smith WC; Department of Ophthalmology, University of Florida, Gainesville, Florida, United States of America.

Publikováno v: PloS one [PLoS One] 2016 Feb 11; Vol. 11 (2), pp. e0148773. Date of Electronic Publication: 2016 Feb 11 (Print Publication: 2016).

Synergistic interactions between two skeletal mutations in mice: individual and combined effects of the semidominants cleidocranial dysplasia (Ccd) and short digits (Dsh).

Autor: Selby PB; Biology Division, Oak Ridge National Laboratory (ORNL), Tennessee., Bolch SN, Mierzejewski VS, McKinley TW Jr, Raymer GD

Publikováno v: The Journal of heredity [J Hered] 1993 Nov-Dec; Vol. 84 (6), pp. 466-74.