(Q48624721)

13 February 2018

title

Nail patella syndrome revisited: 50 years after linkage. (English)

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13 February 2018

main subject

nail-patella syndrome

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I McIntosh

1

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13 February 2018

J A Dunston

2

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13 February 2018

L Liu

3

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13 February 2018

J E Hoover-Fong

4

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13 February 2018

E Sweeney

5

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13 February 2018

language of work or name

English

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publication date

1 July 2005

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13 February 2018

published in

Annals of Human Genetics

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13 February 2018

volume

69

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13 February 2018

issue

Pt 4

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13 February 2018

page(s)

349-363

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13 February 2018

CNS expression pattern of Lmx1b and coexpression with ptx genes suggest functional cooperativity in the development of forebrain motor control systems

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RLIM inhibits functional activity of LIM homeodomain transcription factors via recruitment of the histone deacetylase complex

21 January 2018

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Molecular evolution of the homeodomain family of transcription factors

21 January 2018

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Nail-patella syndrome. Overview on clinical and molecular findings

21 January 2018

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

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Dorsoventral patterning of the vertebrate limb: a process governed by multiple events

21 January 2018

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

21 January 2018

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Multiple calvarial defects in lmx1b mutant mice.

21 January 2018

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

21 January 2018

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21 January 2018

DeLIMiting development

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Lmx1b is essential for the development of serotonergic neurons

21 January 2018

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Lmx1b controls the differentiation and migration of the superficial dorsal horn neurons of the spinal cord

21 January 2018

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LMX1B transactivation and expression in nail-patella syndrome

21 January 2018

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Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.

21 January 2018

1 reference

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Nonsense-mediated mRNA decay in health and disease

21 January 2018

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The International HapMap Project

21 January 2018

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Lbx1 specifies somatosensory association interneurons in the dorsal spinal cord

21 January 2018

1 reference

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Specification of dorsal spinal cord interneurons

21 January 2018

1 reference

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Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9

21 January 2018

1 reference

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Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Insulin gene enhancer binding protein Isl-1 is a member of a novel class of proteins containing both a homeo- and a Cys-His domain

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

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/10.1111%2FJ.1529-8817.2005.00191.X

The homeodomain factor lbx1 distinguishes two major programs of neuronal differentiation in the dorsal spinal cord

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Scanning Human Gene Deserts for Long-Range Enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Genomic strategies to identify mammalian regulatory sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Induction of the LIM homeobox gene Lmx1 by WNT6a establishes dorsoventral pattern in the vertebrate limb

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Skeletal integrity in patients with nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

Widespread occurrence of antisense transcription in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

ALC (adjacent to LMX1 in chick) is a novel dorsal limb mesenchyme marker

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00191.X

10.1111/J.1529-8817.2005.00191.X

21 January 2018

Identifiers

DOI

1 reference

13 February 2018

1 reference

13 February 2018