(Q33938304)

English

Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

photoreceptor protein

0 references

Nicholas H Varvel

8

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Malia M Edwards

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Caralina Marín de Evsikova

2

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Gayle B Collin

3

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16 January 2020

Elaine Gifford

4

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16 January 2020

Jiang Wu

5

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16 January 2020

Wanda L Hicks

6

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16 January 2020

Carrie Whiting

7

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16 January 2020

Nicole Maphis

9

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16 January 2020

Bruce T Lamb

10

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16 January 2020

Jürgen K Naggert

11

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16 January 2020

Patsy M Nishina

12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Neal S Peachey

13

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16 January 2020

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publication date

13 January 2010

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16 January 2020

Investigative Ophthalmology Visual Science

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

51

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

3264-3272

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Functional roles of bestrophins in ocular epithelia

1 reference

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5 July 2018

Early synaptic defects in tulp1-/- mice

1 reference

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5 July 2018

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

1 reference

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5 July 2018

The cystic fibrosis transmembrane conductance regulator in reproductive health and disease.

1 reference

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5 July 2018

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

1 reference

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5 July 2018

Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1

1 reference

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5 July 2018

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)

1 reference

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5 July 2018

Functional abnormalities in the retinal pigment epithelium of CFTR mutant mice

1 reference

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5 July 2018

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

The electro-oculogram

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Chloride channels in physiological volume regulation of human spermatozoa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

CLC chloride channels and transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Cellular volume homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Light-Evoked Responses of the Mouse Retinal Pigment Epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Inherited neurodegenerative diseases: the one-hit model of neurodegeneration

1 reference

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5 July 2018

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Cellular and molecular physiology of volume-sensitive anion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

A common molecular basis for three inherited kidney stone diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Epithelial cell volume modulation and regulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Three light-evoked responses of the retinal pigment epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Effects of DIDS on the chick retinal pigment epithelium. II. Mechanism of the light peak and other responses originating at the basal membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Activation of ion transport pathways by changes in cell volume

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

5 July 2018

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2891478

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Phenotype and genotype correlations in two best families

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29 October 2018

Expression and localization of the inwardly rectifying potassium channel Kir7.1 in native bovine retinal pigment epithelium

1 reference

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Development in vitro of mouse oocytes from primordial follicles.

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29 October 2018

Light-evoked modulation of basolateral membrane Cl- conductance in chick retinal pigment epithelium: the light peak and fast oscillation

1 reference

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Isolation of DNA from biological specimens without extraction with phenol

1 reference

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Characterization of the ATP-promoted aspect of Na+-Ca2+ exchange present in squid retinal nerve axolemma

1 reference

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based on heuristic

inferred from PubMed ID database lookup

Treatment of male infertility

1 reference

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inferred from PubMed ID database lookup

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1 reference

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1 reference

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based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1167/IOVS.09-4887

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20071672%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PMC publication ID

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Europe PubMed Central

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16 January 2020

PubMed publication ID

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Europe PubMed Central

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16 January 2020

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