(Q34229237)

English

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome (English)

1 reference

Europe PubMed Central

31 July 2017

author name string

C Ståhl-Hallengren

1

1 reference

Europe PubMed Central

31 July 2017

T Ukkonen

2

1 reference

Europe PubMed Central

31 July 2017

K Kainulainen

3

1 reference

Europe PubMed Central

31 July 2017

U Kristofersson

4

1 reference

Europe PubMed Central

31 July 2017

T Saxne

5

1 reference

Europe PubMed Central

31 July 2017

K Tornqvist

6

1 reference

Europe PubMed Central

31 July 2017

L Peltonen

7

1 reference

Europe PubMed Central

31 July 2017

language of work or name

0 references

publication date

1 August 1994

1 reference

Europe PubMed Central

31 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

31 July 2017

94

1 reference

Europe PubMed Central

31 July 2017

709-713

1 reference

Europe PubMed Central

31 July 2017

2

1 reference

Europe PubMed Central

31 July 2017

Fall accident patterns. Characterization of most frequent work surface-related injuries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

A program for prediction of protein secondary structure from nucleotide sequence data: application to histocompatibility antigens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Biologically active synthetic fragments of epidermal growth factor: localization of a major receptor-binding region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Blot hybridisation analysis of genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Automated DNA sequencing: ultrasensitive detection of fluorescent bands during electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

The receptor-binding sequence of urokinase. A biological function for the growth-factor module of proteases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Prediction of beta-turns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

6 July 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296150

28 July 2018

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8040326

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117389

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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0 references

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