Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. (Q33829262)

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23 January 2020

title

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis (English)

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23 January 2020

1

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23 January 2020

John Mcgrath

6

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23 January 2020

author name string

Khaled K Abu-Amero

2

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23 January 2020

Saleh Alrasheed

3

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23 January 2020

Ibrahim A Alorainy

4

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23 January 2020

Lu Liu

5

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23 January 2020

Yasser H Al-Faky

8

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23 January 2020

Adel H AlSuhaibani

9

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23 January 2020

Darren T Oystreck

10

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23 January 2020

Thomas M Bosley

11

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23 January 2020

Lionel Van Maldergem

7

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23 January 2020

publication date

24 February 2011

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23 January 2020

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23 January 2020

volume

12

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page(s)

31

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https://scigraph.springernature.com/pub.10.1186/1471-2350-12-31

23 January 2020

exact match

0 references

cites work

ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain

1 reference

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Important role of matrix metalloproteinase 9 in epileptogenesis

4 July 2018

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The neuropsychiatry and neuropsychology of lipoid proteinosis

4 July 2018

1 reference

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Amygdalae calcifications associated with disease duration in lipoid proteinosis

4 July 2018

1 reference

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Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions

4 July 2018

1 reference

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Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa

4 July 2018

1 reference

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Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease

4 July 2018

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Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis

4 July 2018

1 reference

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Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

4 July 2018

1 reference

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Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3050790

Prediction of deleterious human alleles

4 July 2018

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Urbach-Wiethe disease (Lipoid proteinosis).

4 July 2018

1 reference

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Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.

4 July 2018

1 reference

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The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization

4 July 2018

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Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis): A clinical, ultrastructural, and chemical study

4 July 2018

1 reference

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Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review

4 July 2018

1 reference

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Lipoid proteinosis presenting with neuropsychiatric manifestations

4 July 2018

1 reference

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Lipoid proteinosis; a clinical, pathological and genetic study

4 July 2018

1 reference

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Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin.

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-12-31

Panic attacks in an individual with bilateral selective lesions of the amygdala.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-12-31

Amygdalae and striatum calcification in lipoid proteinosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-12-31

Differential expression of extracellular matrix and adhesion molecule genes in the brain of juvenile versus adult mice in responses to intracerebroventricular administration of IL-1

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21349189

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21349189

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-12-31

1 reference

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Dimensions Publication ID

23 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21349189%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference