(Q24337544)

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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway

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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway (English)

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congenital disorder

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Erb-b2 receptor tyrosine kinase 3

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GOA release 2020-03-11

extrinsic apoptotic signaling pathway in absence of ligand

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GOA release 2020-03-11

object named as

Ohad S Birk

6

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author name string

Ginat Narkis

1

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Rivka Ofir

2

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Esther Manor

3

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Daniella Landau

4

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Khalil Elbedour

5

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language of work or name

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publication date

September 2007

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American Journal of Human Genetics

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81

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3

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589-95

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Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

A naturally occurring secreted human ErbB3 receptor isoform inhibits heregulin-stimulated activation of ErbB2, ErbB3, and ErbB4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Structure of the extracellular region of HER3 reveals an interdomain tether

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Reconstitution of the mammalian PI3K/PTEN/Akt pathway in yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Synthesis and function of 3-phosphorylated inositol lipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Severe neuropathies in mice with targeted mutations in the ErbB3 receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

19 March 2017

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

27 September 2017

An emerging role for PtdIns(4,5)P2-mediated signalling in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

27 September 2017

Phosphatidylinositol Phosphate Kinases Put PI4,5P 2 in Its Place

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

27 September 2017

Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

27 September 2017

ErbB3 (HER3) interaction with the p85 regulatory subunit of phosphoinositide 3-kinase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

27 September 2017

The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

27 September 2017

The ErbB signaling network in embryogenesis and oncogenesis: signal diversification through combinatorial ligand-receptor interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

30 May 2018

Cyclin-dependent kinase-5 is involved in neuregulin-dependent activation of phosphatidylinositol 3-kinase and Akt activity mediating neuronal survival

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950827

29 November 2018

A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/17701904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13

1 reference

https://pubmed.ncbi.nlm.nih.gov/17701904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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