Similar articles for PMID: 19887631

Year	Number of Results
1993	1
1998	1
1999	1
2000	2
2002	3
2003	1
2004	4
2005	6
2006	2
2007	5
2008	3
2009	3
2010	12
2011	3
2012	5
2013	4
2014	6
2015	11
2016	4
2017	6
2018	8
2019	5
2020	6
2021	5
2022	4
2023	5
2024	0

1

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B. Chang B, et al. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov 3. Proc Natl Acad Sci U S A. 2009. PMID: 19887631 Free PMC article.

2

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Thiadens AA, et al. Am J Hum Genet. 2009 Aug;85(2):240-7. doi: 10.1016/j.ajhg.2009.06.016. Epub 2009 Jul 16. Am J Hum Genet. 2009. PMID: 19615668 Free PMC article.

3

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Weisschuh N, et al. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30080950 Free article.

4

Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.

Bushehri A, Zare-Abdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorram Khorshid HR. Bushehri A, et al. Iran Biomed J. 2020 Jul;24(4):257-63. doi: 10.29252/ibj.24.4.257. Epub 2020 Dec 28. Iran Biomed J. 2020. PMID: 32306724 Free PMC article.

5

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Grau T, et al. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub 2010 Dec 1. Hum Mol Genet. 2011. PMID: 21127010 Free PMC article.

6

Mechanisms of mutant PDE6 proteins underlying retinal diseases.

Gopalakrishna KN, Boyd K, Artemyev NO. Gopalakrishna KN, et al. Cell Signal. 2017 Sep;37:74-80. doi: 10.1016/j.cellsig.2017.06.002. Epub 2017 Jun 2. Cell Signal. 2017. PMID: 28583373 Free PMC article.

7

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

Daich Varela M, Ullah E, Yousaf S, Brooks BP, Hufnagel RB, Huryn LA. Daich Varela M, et al. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):1. doi: 10.1167/iovs.61.12.1. Invest Ophthalmol Vis Sci. 2020. PMID: 33001157 Free PMC article.

8

Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.

Cheguru P, Majumder A, Artemyev NO. Cheguru P, et al. Mol Cell Neurosci. 2015 Jan;64:1-8. doi: 10.1016/j.mcn.2014.10.007. Epub 2014 Nov 11. Mol Cell Neurosci. 2015. PMID: 25461672 Free PMC article.

9

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Kohl S, et al. Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107. Hum Mol Genet. 2000. PMID: 10958649

10

Two novel PDE6C gene mutations in Chinese family with achromatopsia.

Yuan S, Qi R, Fang X, Wang X, Zhou L, Sheng X. Yuan S, et al. Ophthalmic Genet. 2020 Dec;41(6):591-598. doi: 10.1080/13816810.2020.1802762. Epub 2020 Aug 12. Ophthalmic Genet. 2020. PMID: 32787476

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