Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene (Q28363963)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11328746%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene (English)

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7 November 2019

1 reference

1

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7 November 2019

author name string

Y Liu

2

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7 November 2019

M M Sohocki

3

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7 November 2019

D J Zack

4

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7 November 2019

J R Heckenlively

6

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7 November 2019

D G Birch

7

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7 November 2019

S P Daiger

5

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7 November 2019

language of work or name

English

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publication date

1 May 2001

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Investigative Ophthalmology Visual Science

7 November 2019

published in

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7 November 2019

volume

42

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7 November 2019

issue

6

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7 November 2019

page(s)

1319-1327

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A novel locus for Leber congenital amaurosis maps to chromosome 6q

7 November 2019

cites work

1 reference

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

20 March 2017

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A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

20 March 2017

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Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

20 March 2017

1 reference

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A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

20 March 2017

1 reference

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

20 March 2017

1 reference

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Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

20 March 2017

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

20 March 2017

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Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes

20 March 2017

1 reference

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Mutations in RPE65 cause Leber's congenital amaurosis

20 March 2017

1 reference

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

20 March 2017

1 reference

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The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression

20 March 2017

1 reference

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A conserved retina-specific gene encodes a basic motif/leucine zipper domain

20 March 2017

1 reference

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A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX

20 March 2017

1 reference

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Risk factors for longitudinal bone loss in elderly men and women: the Framingham Osteoporosis Study

20 March 2017

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Leber congenital amaurosis

29 September 2017

1 reference

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Melatonin stimulates proliferation and type I collagen synthesis in human bone cells in vitro

29 September 2017

1 reference

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A novel locus for Leber congenital amaurosis on chromosome 14q24.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581450

Effects on bone mass after eight years of hormonal replacement therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581450

Leber congenital amaurosis and its association with keratoconus and keratoglobus.

29 September 2017

1 reference

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Is Postmenopausal Osteoporosis Related to Pineal Gland Functions?

29 September 2017

1 reference

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Melatonin promotes osteoblast differentiation and bone formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581450

Molecular cloning of the cone-rod homeobox gene (Crx) from the rat and its temporal expression pattern in the retina under a daily light-dark cycle

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581450

Endocrine secretions under abnormal light-dark cycles and in the blind.

2 June 2018

1 reference

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Assessing abnormal rod photoreceptor activity with the a-wave of the electroretinogram: applications and methods

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581450

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2581450

Light adaptation of human rod receptors: the leading edge of the human a-wave and models of rod receptor activity.

2 June 2018

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Standardized full-field electroretinography. Normal values and their variation with age

2 June 2018

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Retinal Aplasia as a Clinical Entity

2 June 2018

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Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

27 November 2018

1 reference

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Long-term effects of continuous combined HRT on bone turnover and lipid metabolism in postmenopausal women.

27 November 2018

1 reference

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Bone mineral density, muscle strength and physical activity. A population-based study of 332 subjects aged 15-42 years.

27 November 2018

1 reference

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Pineal and adrenal effects on calcium homeostasis in the rat.

27 November 2018

1 reference

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Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene

27 November 2018

1 reference

12 December 2020

Melatonin and the pituitary-thyroid axis status in blind adults: a possible resetting after puberty

1 reference

12 December 2020

Physical activity and osteoporotic fracture risk in older women. Study of Osteoporotic Fractures Research Group

1 reference

12 December 2020

On-line analysis of electrolytes in extracorporeally circulating blood: application of a rat model to examine the effect of a single pharmacological dose of melatonin on electrolyte levels in blood

1 reference

12 December 2020

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene

1 reference

12 December 2020

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13

1 reference

12 December 2020

1 reference

12 December 2020

Long-term effects of transdermal and oral hormone replacement therapy on postmenopausal bone loss

1 reference

12 December 2020

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype

1 reference

12 December 2020

Concordance and recessive inheritance of Leber congenital amaurosis

1 reference

12 December 2020

Leber's congenital tapetoretinal degeneration

1 reference

12 December 2020

Criteria for monocular acuity deficit in infancy and early childhood

1 reference

12 December 2020

1 reference

12 December 2020

Physical activity and predisposition for hip fractures: a review

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11328746%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

11328746

1 reference