Mutations in a novel serine protease PRSS56 in families with nanophthalmos. (Q35108810)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850159%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Mutations in a novel serine protease PRSS56 in families with nanophthalmos (English)

1 reference

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11 February 2020

author

Simon Papillon-Cavanagh

14

object named as

Simon Papillon-Cavanagh

0 references

Marie-Pierre Dubé

2

object named as

Marie-Pierre Dubé

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author name string

Andrew Orr

1

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11 February 2020

Marie-Pierre Dubé

2

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11 February 2020

Juan C Zenteno

3

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11 February 2020

Haiyan Jiang

4

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11 February 2020

Geraldine Asselin

5

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11 February 2020

Susan C Evans

6

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11 February 2020

Aurore Caqueret

7

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11 February 2020

Hesham Lakosha

8

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11 February 2020

Louis Letourneau

9

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11 February 2020

Julien Marcadier

10

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11 February 2020

Makoto Matsuoka

11

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11 February 2020

Christine Macgillivray

12

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11 February 2020

Mathew Nightingale

13

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11 February 2020

Scott Perry

15

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11 February 2020

Sylvie Provost

16

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11 February 2020

Mark Ludman

17

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11 February 2020

Duane L Guernsey

18

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11 February 2020

Mark E Samuels

19

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11 February 2020

Simon Papillon-Cavanagh

14

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11 February 2020

publication date

12 July 2011

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11 February 2020

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11 February 2020

volume

17

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11 February 2020

page(s)

1850-1861

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Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

A method and server for predicting damaging missense mutations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Homeostasis of eye growth and the question of myopia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

MUSCLE: multiple sequence alignment with high accuracy and high throughput

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

ConSurf: an algorithmic tool for the identification of functional regions in proteins by surface mapping of phylogenetic information

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Myopia. The nature versus nurture debate goes on.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

9 July 2018

Familial Nanophthalmos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

27 September 2018

The nanophthalmic macula

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137557

Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850159

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Posterior microphthalmos versus nanophthalmos

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850159

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Refractive development of the human eye

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21850159

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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11 February 2020

PubMed publication ID

21850159

1 reference