Nail patella syndrome revisited: 50 years after linkage. (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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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

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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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DeLIMiting development

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Lmx1b is essential for the development of serotonergic neurons

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

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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

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

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Lbx1 specifies somatosensory association interneurons in the dorsal spinal cord

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

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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

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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

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

21 January 2018

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

21 January 2018

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Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Scanning Human Gene Deserts for Long-Range Enhancers

21 January 2018

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Ubiquitination-dependent cofactor exchange on LIM homeodomain transcription factors

21 January 2018

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Genomic strategies to identify mammalian regulatory sequences

21 January 2018

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Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Skeletal integrity in patients with nail patella syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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Widespread occurrence of antisense transcription in the human genome

21 January 2018

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

21 January 2018

1 reference

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10.1111/J.1529-8817.2005.00191.X

21 January 2018

Identifiers

DOI

1 reference

13 February 2018

PubMed ID

15996164

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13 February 2018