(Q35165296)

24809698

6 August 2017

title

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]. (English)

1 reference

6 August 2017

1

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2 June 2020

Joe Rainger

6

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2 June 2020

Caroline Thaung

7

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2 June 2020

Ian J. Jackson

18

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2 June 2020

author name string

Danilo G Macalinao

2

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2 June 2020

Lisa McKie

3

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2 June 2020

Lorraine Rose

4

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2 June 2020

Alison L Kearney

5

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2 June 2020

Margaret Keighren

8

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2 June 2020

Shalini Jadeja

9

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2 June 2020

Katrine West

10

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2 June 2020

Stephen C Kneeland

11

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2 June 2020

Richard S Smith

12

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2 June 2020

Gareth R Howell

13

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2 June 2020

Fiona Young

14

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2 June 2020

Morag Robertson

15

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2 June 2020

Rob van T' Hof

16

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2 June 2020

Simon W M John

17

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2 June 2020

publication date

8 May 2014

1 reference

6 August 2017

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2 June 2020

volume

10

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2 June 2020

issue

5

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2 June 2020

page(s)

e1004359

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Creative Commons Attribution 4.0 International

2 June 2020

copyright license

start time

8 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma

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Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

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Lmx1b is essential for Fgf8 and Wnt1 expression in the isthmic organizer during tectum and cerebellum development in mice

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

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Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma

13 July 2018

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Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage

13 July 2018

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Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

13 July 2018

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Heterozygous mutations of OTX2 cause severe ocular malformations

13 July 2018

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Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome

13 July 2018

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The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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Functional analysis of the nuclear LIM domain interactor NLI

13 July 2018

1 reference

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Transcriptional synergy between LIM-homeodomain proteins and basic helix-loop-helix proteins: the LIM2 domain determines specificity

13 July 2018

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Nuclear LIM interactor, a rhombotin and LIM homeodomain interacting protein, is expressed early in neuronal development

13 July 2018

1 reference

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xUBF, an RNA polymerase I transcription factor, binds crossover DNA with low sequence specificity

13 July 2018

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High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

13 July 2018

1 reference

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13 July 2018

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Synergistic activation of the insulin gene by a LIM-homeo domain protein and a basic helix-loop-helix protein: building a functional insulin minienhancer complex

13 July 2018

1 reference

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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

13 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

Novel ENU-induced eye mutations in the mouse: models for human eye disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

The functional domains of the Drosophila morphogen dorsal: evidence from the analysis of mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

Regional optic nerve damage in experimental mouse glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

Outflow facility in mice with a targeted type I collagen mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004359

Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4014447

Intraocular pressure in inbred mouse strains

27 September 2018

1 reference

12 December 2020

Functional characterization of LMX1B mutations associated with nail-patella syndrome

1 reference

12 December 2020

Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy

1 reference

12 December 2020

1 reference

12 December 2020

Cotranslation of activated mutant p53 with wild type drives the wild-type p53 protein into the mutant conformation

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1004359

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24809698%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24809698%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

24809698

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24809698%20AND%20SRC:MED&resulttype=core&format=json