Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome (Q37203797)

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English	Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

18 August 2017

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome (English)

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Europe PubMed Central

PMC publication ID

18 August 2017

Knobloch syndrome

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7

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Czeizel AE

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18 August 2017

author name string

Suzuki OT

1

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18 August 2017

Sertié AL

2

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18 August 2017

Der Kaloustian VM

3

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18 August 2017

Kok F

4

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18 August 2017

Carpenter M

5

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18 August 2017

Murray J

6

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18 August 2017

Kliemann SE

8

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18 August 2017

Rosemberg S

9

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18 August 2017

Monteiro M

10

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18 August 2017

Olsen BR

11

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18 August 2017

Passos-Bueno MR

12

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18 August 2017

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publication date

1 November 2002

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18 August 2017

American Journal of Human Genetics

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18 August 2017

71

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18 August 2017

6

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18 August 2017

1320-1329

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18 August 2017

Epitope-defined monoclonal antibodies against multiplexin collagens demonstrate that type XV and XVIII collagens are expressed in specialized basement membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Lack of collagen XVIII/endostatin results in eye abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

The NC1/endostatin domain of Caenorhabditis elegans type XVIII collagen affects cell migration and axon guidance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Knobloch syndrome involving midline scalp defect of the frontal region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Structure, function and tissue forms of the C-terminal globular domain of collagen XVIII containing the angiogenesis inhibitor endostatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Endostatin: an endogenous inhibitor of angiogenesis and tumor growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Alpha 1(XVIII), a collagen chain with frequent interruptions in the collagenous sequence, a distinct tissue distribution, and homology with type XV collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Mouse Col18a1 is expressed in a tissue-specific manner as three alternative variants and is localized in basement membrane zones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

6 September 2017

Induced repatterning of type XVIII collagen expression in ureter bud from kidney to lung type: association with sonic hedgehog and ectopic surfactant protein C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

28 September 2017

The short and long forms of type XVIII collagen show clear tissue specificities in their expression and location in basement membrane zones in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

26 June 2018

Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

3 September 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

3 September 2018

Identification of three N-terminal ends of type XVIII collagen chains and tissue-specific differences in the expression of the corresponding transcripts. The longest form contains a novel motif homologous to rat and Drosophila frizzled proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378571

3 September 2018

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online

1 reference

https://pubmed.ncbi.nlm.nih.gov/12415512

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The second report of Knobloch syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12415512

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12415512

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/12415512

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12415512

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

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