(Q35204918)

7 August 2017

title

High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2 (English)

1 reference

7 August 2017

1 reference

Ohad S Birk

13

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Johanna Myllyharju

12

object named as

Johanna Myllyharju

1 reference

7 August 2017

Shikma Mordechai

1

1 reference

7 August 2017

Libe Gradstein

2

1 reference

7 August 2017

Annika Pasanen

3

1 reference

7 August 2017

Rivka Ofir

4

1 reference

7 August 2017

Khalil El Amour

5

1 reference

7 August 2017

Jaime Levy

6

1 reference

7 August 2017

Nadav Belfair

7

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7 August 2017

Tova Lifshitz

8

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7 August 2017

Sara Joshua

9

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7 August 2017

Ginat Narkis

10

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7 August 2017

Khalil Elbedour

11

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7 August 2017

language of work or name

English

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publication date

1 September 2011

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

89

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7 August 2017

issue

3

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7 August 2017

page(s)

438-445

1 reference

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Syndrome to gene (S2G): in-silico identification of candidate genes for human diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Myopia genetics: a review of current research and emerging trends

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

LEPREL1, a novel ER and Golgi resident member of the Leprecan family

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

The biological basis of myopic refractive error

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Interactions of genes and environment in myopia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Pathologic myopia: where are we now?.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Cloning of the human prolyl 4-hydroxylase alpha subunit isoform alpha(II) and characterization of the type II enzyme tetramer. The alpha(I) and alpha(II) subunits do not form a mixed alpha(I)alpha(II)beta2 tetramer

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Improvements in protein secondary structure prediction by an enhanced neural network

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Expression of prolyl 3-hydroxylase genes in embryonic and adult mouse tissues

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Regulation of eye size by the retinal basement membrane and vitreous body

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Optimizing exact genetic linkage computations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Presence of collagen IV in the ciliary zonules of the human eye: an immunohistochemical study by LM and TEM.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169819

Collagen gene expression and the altered accumulation of scleral collagen during the development of high myopia

26 September 2018

1 reference

12 December 2020

Covalent structure of mouse type-IV collagen. Isolation, order and partial amino-acid sequence of cyanogen-bromide and tryptic peptides of pepsin fragment P1 from the alpha 1(IV) chain

1 reference

12 December 2020

10 Posttranslational enzymes in the biosynthesis of collagen: Intracellular enzymes

1 reference

12 December 2020

Immunolocalization of prolyl 4-hydroxylase subunits, alpha-smooth muscle actin, and extracellular matrix components in human lens capsules with lens implants

1 reference

12 December 2020

10.1016/J.AJHG.2011.08.003

Identifiers

DOI

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Fatcat

https://api.fatcat.wiki/v0/release/tb6io5jonjg7tfo4jj47mo4klq

30 July 2022

release_tb6io5jonjg7tfo4jj47mo4klq

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/tb6io5jonjg7tfo4jj47mo4klq

30 July 2022

https://api.fatcat.wiki/v0/release/tb6io5jonjg7tfo4jj47mo4klq

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/tb6io5jonjg7tfo4jj47mo4klq

1 reference

30 July 2022