The human LMX1B gene: transcription unit, promoter, and pathogenic mutations (Q28289050)

1

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Jeanette D Hamlington

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Jayshree Zaveri

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Elizabeth Sweeney

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Julie Sibbring

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Catherine Tran

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Maria Malbroux

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John P O'Neill

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Roger Mountford

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Iain McIntosh

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language of work or name

English

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publication date

September 2004

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published in

Genomics

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volume

84

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issue

3

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page(s)

565-76

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cites work

DeLIMiting development

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Functional analysis of the nuclear LIM domain interactor NLI

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Molecular evolution of the homeodomain family of transcription factors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Mutation analysis of LMX1B gene in nail-patella syndrome patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Multiple calvarial defects in lmx1b mutant mice.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Lmx1b is essential for the development of serotonergic neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Nail-patella syndrome. Overview on clinical and molecular findings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Cosegregation of open-angle glaucoma and the nail-patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Nail patella syndrome: a review of the phenotype aided by developmental biology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

The Sequence of the Human Genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Initial sequencing and analysis of the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Conserved noncoding sequences are reliable guides to regulatory elements.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Enrichment of regulatory signals in conserved non-coding genomic sequence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Control of eukaryotic protein synthesis by upstream open reading frames in the 5'-untranslated region of an mRNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Eukaryotic mRNAs encoding abundant and scarce proteins are statistically dissimilar in many structural features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Pushing the limits of the scanning mechanism for initiation of translation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Tight control of platelet-derived growth factor B/c-sis expression by interplay between the 5'-untranslated region sequence and the major upstream promoter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Regulation of constitutive expression of mouse PTEN by the 5'-untranslated region

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

LMX1B transactivation and expression in nail-patella syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Nonsense-mediated mRNA decay in health and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

PipMaker--a web server for aligning two genomic DNA sequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

CpG islands as gene markers in the human genome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

TRANSFAC: an integrated system for gene expression regulation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2004.06.002