Literature DB >> 30578488

Autosomal Dominant Retinitis Pigmentosa.

Stephen H Tsang1,2, Tarun Sharma3.   

Abstract

More than 70 genes (over 3000 mutations) are known to cause non-syndromic retinitis pigmentosa (RP), including autosomal dominant (AD), autosomal recessive (AR), X-linked, and simplex forms (inheritance not known). The AD form accounts for approximately 15-25% of cases; AR, 5-20%; X-linked, 5-15%; and simplex, 40-50%.

Entities:  

Keywords:  Autosomal dominant; Retinitis pigmentosa

Mesh:

Year:  2018        PMID: 30578488     DOI: 10.1007/978-3-319-95046-4_15

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  7 in total

1.  Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa.

Authors:  Adam Ruff; Alangoya Tezel; Tongalp H Tezel
Journal:  PLoS One       Date:  2022-10-21       Impact factor: 3.752

2.  Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Authors:  Leonardo Colombo; Paolo E Maltese; Marco Castori; Said El Shamieh; Christina Zeitz; Isabelle Audo; Alessandra Zulian; Carla Marinelli; Sabrina Benedetti; Alisia Costantini; Simone Bressan; Marcella Percio; Paolo Ferri; Andi Abeshi; Matteo Bertelli; Luca Rossetti
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-02-01       Impact factor: 4.799

3.  Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Authors:  Zhouxian Bai; Yanchuan Xie; Lina Liu; Jingzhi Shao; Yuying Liu; Xiangdong Kong
Journal:  BMC Med Genomics       Date:  2021-03-29       Impact factor: 3.063

Review 4.  Retinal cell transplantation in retinitis pigmentosa.

Authors:  Tongalp H Tezel; Adam Ruff
Journal:  Taiwan J Ophthalmol       Date:  2021-12-06

5.  Management of retinitis pigmentosa by Wharton's jelly-derived mesenchymal stem cells: prospective analysis of 1-year results.

Authors:  Emin Özmert; Umut Arslan
Journal:  Stem Cell Res Ther       Date:  2020-08-12       Impact factor: 6.832

6.  Rod photoreceptor clearance due to misfolded rhodopsin is linked to a DAMP-immune checkpoint switch.

Authors:  Sang Joon Lee; Wei Wang; Lei Jin; Xiaoqin Lu; Lei Gao; Yao Chen; Tingting Liu; Douglas Emery; Eric Vukmanic; Yongqing Liu; Henry J Kaplan; Douglas C Dean
Journal:  J Biol Chem       Date:  2020-11-27       Impact factor: 5.157

7.  Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy.

Authors:  Lucie Crouzier; Camille Diez; Elodie M Richard; Nicolas Cubedo; Clément Barbereau; Mireille Rossel; Thomas Delaunay; Tangui Maurice; Benjamin Delprat
Journal:  Front Cell Dev Biol       Date:  2021-05-20
  7 in total

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