Literature DB >> 23486539

Clinical utility gene card for: Achromatopsia - update 2013.

Susanne Kohl1, Christian Hamel.   

Abstract

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Mesh：

Year:  2013        PMID： 23486539      PMCID： PMC3798849          DOI： 10.1038/ejhg.2013.44

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  4 in total

1.  Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Authors:  Alberta A H J Thiadens; Susanne Roosing; Rob W J Collin; Norka van Moll-Ramirez; Janneke J C van Lith-Verhoeven; Mary J van Schooneveld; Anneke I den Hollander; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Journal:  Ophthalmology       Date:  2010-01-15       Impact factor: 12.079

2.  CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Authors:  Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Agnes Farkas; Sten Andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Helene Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul A Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2005-03       Impact factor: 4.246

3.  CNGA3 mutations in hereditary cone photoreceptor disorders.

Authors:  B Wissinger; D Gamer; H Jägle; R Giorda; T Marx; S Mayer; S Tippmann; M Broghammer; B Jurklies; T Rosenberg; S G Jacobson; E C Sener; S Tatlipinar; C B Hoyng; C Castellan; P Bitoun; S Andreasson; G Rudolph; U Kellner; B Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; F P Cremers; E Apfelstedt-Sylla; E Zrenner; R Salati; L T Sharpe; S Kohl
Journal:  Am J Hum Genet       Date:  2001-08-30       Impact factor: 11.025

4.  Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Authors:  Alberta A H J Thiadens; Niki W R Slingerland; Susanne Roosing; Mary J van Schooneveld; Janneke J C van Lith-Verhoeven; Norka van Moll-Ramirez; L Ingeborgh van den Born; Carel B Hoyng; Frans P M Cremers; Caroline C W Klaver
Journal:  Ophthalmology       Date:  2009-07-09       Impact factor: 12.079
  4 in total
  10 in total

Review 1.  Clinical characteristics and current therapies for inherited retinal degenerations.

Authors:  José-Alain Sahel; Katia Marazova; Isabelle Audo
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-16       Impact factor: 6.915

2.  Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.

Authors:  Manca Tekavčič Pompe; Nika Vrabič; Marija Volk; Andrej Meglič; Martina Jarc-Vidmar; Borut Peterlin; Marko Hawlina; Ana Fakin
Journal:  Curr Issues Mol Biol       Date:  2021-08-16       Impact factor: 2.976

3.  Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.

Authors:  Kazuki Kuniyoshi; Sanae Muraki-Oda; Hisao Ueyama; Futoshi Toyoda; Hiroyuki Sakuramoto; Hisakazu Ogita; Motohiro Irifune; Shuji Yamamoto; Akira Nakao; Kazushige Tsunoda; Takeshi Iwata; Masahito Ohji; Yoshikazu Shimomura
Journal:  Jpn J Ophthalmol       Date:  2016-02-05       Impact factor: 2.447

Review 4.  Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.

Authors:  Stylianos Michalakis; Elvir Becirovic; Martin Biel
Journal:  Int J Mol Sci       Date:  2018-03-07       Impact factor: 5.923

Review 5.  Achromatopsia: Genetics and Gene Therapy.

Authors:  Stylianos Michalakis; Maximilian Gerhardt; Günther Rudolph; Siegfried Priglinger; Claudia Priglinger
Journal:  Mol Diagn Ther       Date:  2021-12-03       Impact factor: 4.074

6.  Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.

Authors:  Xiangdong Zheng; Huan Li; Zhengshan Hu; Deyuan Su; Jian Yang
Journal:  Commun Biol       Date:  2022-03-01

7.  Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.

Authors:  Magdalini Triantafylla; Eleni Papageorgiou; Mervyn G Thomas; Rebecca McLean; Susanne Kohl; Viral Sheth; Zhanhan Tu; Frank A Proudlock; Irene Gottlob
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-08-02       Impact factor: 4.925

8.  A nonhuman primate model of inherited retinal disease.

Authors:  Ala Moshiri; Rui Chen; Soohyun Kim; R Alan Harris; Yumei Li; Muthuswamy Raveendran; Sarah Davis; Qingnan Liang; Ori Pomerantz; Jun Wang; Laura Garzel; Ashley Cameron; Glenn Yiu; J Timothy Stout; Yijun Huang; Christopher J Murphy; Jeffrey Roberts; Kota N Gopalakrishna; Kimberly Boyd; Nikolai O Artemyev; Jeffrey Rogers; Sara M Thomasy
Journal:  J Clin Invest       Date:  2019-01-22       Impact factor: 14.808

9.  Validating Fluorescent Chrnb4.EGFP Mouse Models for the Study of Cone Photoreceptor Degeneration.

Authors:  Alicia A Brunet; Paula I Fuller-Carter; Annie L Miller; Valentina Voigt; Sophia Vasiliou; Rabab Rashwan; David M Hunt; Livia S Carvalho
Journal:  Transl Vis Sci Technol       Date:  2020-08-18       Impact factor: 3.283

10.  Mouse Models of Achromatopsia in Addressing Temporal "Point of No Return" in Gene-Therapy.

Authors:  Nan-Kai Wang; Pei-Kang Liu; Yang Kong; Sarah R Levi; Wan-Chun Huang; Chun-Wei Hsu; Hung-Hsi Wang; Nelson Chen; Yun-Ju Tseng; Peter M J Quinn; Ming-Hong Tai; Chyuan-Sheng Lin; Stephen H Tsang
Journal:  Int J Mol Sci       Date:  2021-07-28       Impact factor: 5.923
  10 in total

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