Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human (Q21144982)

2

Camasamudram

Vijayasarathy

1 reference

17 August 2022

Jacob D Brown

3

Jacob D

Brown

1 reference

17 August 2022

Mohit Mehtani

4

Mohit

Mehtani

1 reference

17 August 2022

Ighovie F Onojafe

5

Ighovie F

Onojafe

1 reference

17 August 2022

Yuri V Sergeev

6

Yuri V

Sergeev

1 reference

17 August 2022

Elangovan Boobalan

7

Elangovan

Boobalan

1 reference

17 August 2022

Marypat Jones

8

Marypat

Jones

1 reference

17 August 2022

Ke Tang

9

Ke

Tang

1 reference

17 August 2022

Haiquan Liu

10

Haiquan

Liu

1 reference

17 August 2022

Chun-Hong Xia

11

Chun-Hong

Xia

1 reference

17 August 2022

Xiaohua Gong

12

Xiaohua

Gong

1 reference

17 August 2022

Brian P Brooks

13

Brian P

Creative Commons CC0 License

Brooks

1 reference

17 August 2022

language of work or name

English

0 references

publication date

March 2010

0 references

published in

PLOS Genetics

0 references

volume

6

0 references

page(s)

e1000870

0 references

issue

3

0 references

copyright license

start time

5 March 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

Development of a method for screening short-lived proteins using green fluorescent protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

A general method applicable to the search for similarities in the amino acid sequence of two proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Phosphorylation of Pax2 by the c-Jun N-terminal kinase and enhanced Pax2-dependent transcription activation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Pax2 contributes to inner ear patterning and optic nerve trajectory

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Accurate modeling of protein conformation by automatic segment matching

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

A Hox-Eya-Pax complex regulates early kidney developmental gene expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Pax-2 controls multiple steps of urogenital development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Velvet, a dominant Egfr mutation that causes wavy hair and defective eyelid development in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Pax2 expression and retinal morphogenesis in the normal and Krd mouse

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Mapping of Pax-2 transcription activation domains

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Mutation of PAX2 in two siblings with renal-coloboma syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Molecular analysis of a human PAX6 homeobox mutant

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Groucho suppresses Pax2 transactivation by inhibition of JNK-mediated phosphorylation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Prediction of protein side-chain conformation by packing optimization.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

30 May 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

21 January 2018

Renal coloboma syndrome

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Astrocyte-endothelial cell relationships during human retinal vascular development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Predicting protein mutant energetics by self-consistent ensemble optimization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

PROCHECK: a program to check the stereochemical quality of protein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000870

Differentiation and migration of astrocyte precursor cells and astrocytes in human fetal retina: relevance to optic nerve coloboma.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2832668

PAX2 gene mutation in a family with isolated renal hypoplasia

29 November 2018

1 reference

12 December 2020

Renal-coloboma syndrome: report of a novel PAX2 gene mutation

1 reference

12 December 2020

Spatially and temporally restricted expression of Pax2 during murine neurogenesis

1 reference

12 December 2020

Murine Pax-2 protein is a sequence-specific trans-activator with expression in the genital system

1 reference

12 December 2020

Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus

1 reference

12 December 2020

Purification and characterization of astrocyte precursor cells in the developing rat optic nerve

1 reference

12 December 2020

Identification of genes within the Krd deletion on mouse chromosome 19

1 reference

12 December 2020

Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation

1 reference

12 December 2020

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome

1 reference

12 December 2020

Early diagnosis of the papillorenal syndrome by optic disc morphology

1 reference

12 December 2020

A clinico-genetic study of renal coloboma syndrome in children

1 reference

12 December 2020