(Q28235111)

English

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

scientific article (publication date: March 2005)

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scholarly article

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Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases (English)

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macular degeneration

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inferred from title

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author name string

Koji M Nishiguchi

1

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Michael A Sandberg

2

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Nasim Gorji

3

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Eliot L Berson

4

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Thaddeus P Dryja

5

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language of work or name

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publication date

March 2005

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25

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3

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248-58

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Typical total monochromacy. A histological and psychophysical study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

21 January 2018

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive cone degeneration, dominantly inherited

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Rod Responses in Retinitis Pigmentosa, Dominantly Inherited

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features of achromatopsia in Swedish patients with defined genotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

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Functional co-assembly among subunits of cyclic-nucleotide-activated, nonselective cation channels, and across species from nematode to human

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital total color blindness: a clincopathological report

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive cone dystrophy associated with mutation in CNGB3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive peripheral cone dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Peripheral cone disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

An electroretinographic and molecular genetic study of X-linked cone degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Foveal cone electroretinograms in retinitis pigmentosa and juvenile maular degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic basis of total colourblindness among the Pingelapese islanders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of an inherited form of incomplete achromatopsia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Values of electroretinogram responses according to axial length

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

CNGA3 mutations in hereditary cone photoreceptor disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and function of cyclic nucleotide-gated channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20142

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20142

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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