Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease (Q57923292)

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30 December 2019

title

Defective splicing of Megf7/Lrp4, a regulator of distal limb development, in autosomal recessive mulefoot disease (English)

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30 December 2019

author name string

Eric B Johnson

1

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30 December 2019

David J Steffen

2

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30 December 2019

Kristen W Lynch

3

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30 December 2019

Joachim Herz

4

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30 December 2019

language of work or name

English

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publication date

11 September 2006

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30 December 2019

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30 December 2019

volume

88

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30 December 2019

page(s)

600-609

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30 December 2019

issue

5

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

30 December 2019

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Patterning Systems—From One End of the Limb to the Other

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Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice

7 January 2021

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Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse

7 January 2021

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Lipoprotein receptors in the nervous system

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The low-density lipoprotein receptor gene family: a cellular Swiss army knife?

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LRP2/megalin is required for patterning of the ventral telencephalon

7 January 2021

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Megalin functions as an endocytic sonic hedgehog receptor

7 January 2021

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The low density lipoprotein receptor-1, LRP1, interacts with the human frizzled-1 (HFz1) and down-regulates the canonical Wnt signaling pathway

7 January 2021

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An LDL-receptor-related protein mediates Wnt signalling in mice

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arrow encodes an LDL-receptor-related protein essential for Wingless signalling

7 January 2021

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 January 2021

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Differential expression of CD45 isoforms is controlled by the combined activity of basal and inducible splicing-regulatory elements in each of the variable exons

7 January 2021

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A conserved signal-responsive sequence mediates activation-induced alternative splicing of CD45.

7 January 2021

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Interaction of cytosolic adaptor proteins with neuronal apolipoprotein E receptors and the amyloid precursor protein

7 January 2021

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The YXXL motif, but not the two NPXY motifs, serves as the dominant endocytosis signal for low density lipoprotein receptor-related protein

7 January 2021

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Origins of peptide selectivity and phosphoinositide binding revealed by structures of disabled-1 PTB domain complexes

7 January 2021

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Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction

7 January 2021

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Pre-mRNA splicing and human disease

7 January 2021

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Exon recognition in vertebrate splicing

7 January 2021

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Serine/arginine-rich protein-dependent suppression of exon skipping by exonic splicing enhancers

7 January 2021

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Molecular mechanisms of lipoprotein receptor signalling

7 January 2021

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A model system for activation-induced alternative splicing of CD45 pre-mRNA in T cells implicates protein kinase C and Ras.

7 January 2021

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7 January 2021

Identifiers

DOI

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30 December 2019

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