Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations (Q33722167)

28 July 2017

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title

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

1 reference

28 July 2017

developmental disorder

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Eccles MR

1

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PubMed ID

10466411

28 July 2017

Schimmenti LA

series ordinal

2

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28 July 2017

1 July 1999

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28 July 2017

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28 July 2017

56

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28 July 2017

1-9

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28 July 2017

1

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Optic nerve coloboma associated with renal disease

28 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Mutation of PAX2 in two siblings with renal-coloboma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Pax genes and their roles in cell differentiation and development

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Pax genes and organogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Mapping of the human homologs of the murine paired-box-containing genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Mapping of Pax-2 transcription activation domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Evolution and role of Pax genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Genomic structure of the human PAX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Pax2 expression and retinal morphogenesis in the normal and Krd mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Molecular Biology Database List

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

Unravelling the genetics of vesicoureteric reflux: a common familial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

The development of the vertebrate inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

The PAX2 tanscription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

7 January 2021

C-terminal activating and inhibitory domains determine the transactivation potential of BSAP (Pax-5), Pax-2 and Pax-8.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

7 January 2021

Dominant inheritance of optic pits

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560101.X

7 January 2021

10.1034/J.1399-0004.1999.560101.X

Identifiers

DOI

1 reference

28 July 2017

1 reference

PubMed ID

10466411