(Q33845128)

29 July 2017

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations (English)

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lissencephaly with cerebellar hypoplasia

29 July 2017

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lissencephaly

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cerebellar hypoplasia

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Hong SE

1

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29 July 2017

Shugart YY

2

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29 July 2017

Huang DT

3

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29 July 2017

Shahwan SA

4

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29 July 2017

Grant PE

5

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29 July 2017

Hourihane JO

6

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29 July 2017

Martin ND

7

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29 July 2017

Walsh CA

8

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29 July 2017

language of work or name

English

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publication date

1 September 2000

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29 July 2017

4

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inferred from page(s)

published in

Nature Genetics

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29 July 2017

26

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29 July 2017

93-96

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29 July 2017

1

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https://scigraph.springernature.com/pub.10.1038/79246

29 July 2017

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cites work

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

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7 January 2021

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

1 reference

7 January 2021

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

1 reference

7 January 2021

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

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7 January 2021

Genetic malformations of the human cerebral cortex

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7 January 2021

Mechanisms of Cortical Development: A View From Mutations in Mice

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7 January 2021

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7 January 2021

Reelin is a ligand for lipoprotein receptors

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7 January 2021

Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation

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7 January 2021

Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2

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7 January 2021

Reelin binds alpha3beta1 integrin and inhibits neuronal migration.

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7 January 2021

Proteins of the CNR family are multiple receptors for Reelin

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7 January 2021

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

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7 January 2021

The human reelin gene: isolation, sequencing, and mapping on chromosome 7.

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7 January 2021

Cloning of human DAB1 and mapping to chromosome 1p31-p32.

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7 January 2021

Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype.

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7 January 2021

Genomic organization of the mouse reelin gene.

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7 January 2021

Evolutionarily conserved, alternative splicing of reelin during brain development.

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

Expression of reelin in adult mammalian blood, liver, pituitary pars intermedia, and adrenal chromaffin cells

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7 January 2021

Reelin is a secreted glycoprotein recognized by the CR-50 monoclonal antibody.

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7 January 2021

A truncated Reelin protein is produced but not secreted in the 'Orleans' reeler mutation (Reln[rl-Orl]).

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7 January 2021

Reln(rl-Alb2), an allele of reeler isolated from a chlorambucil screen, is due to an IAP insertion with exon skipping

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7 January 2021

Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon

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7 January 2021

The reeler gene encodes a protein with an EGF-like motif expressed by pioneer neurons

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7 January 2021

A decrease of reelin expression as a putative vulnerability factor in schizophrenia

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7 January 2021

Identifiers

DOI

10.1038/79246

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29 July 2017

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