(Q28118637)

4 January 2017

title

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease (English)

1 reference

Elastin microfibril interfacer 1

4 January 2017

0 references

1 reference

1 reference

connective tissue disease

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Peter J Hulick

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Paola Spessotto

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Alfonso Colombatti

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Francesco Bucciotti

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Brigette Tippin Davis

4

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Cameron Mroske

5

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Qingshen Gao

8

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Roberto Doliana

11

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Kelly D Farwell

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Scott M Weissman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

publication date

1 January 2016

1 reference

4 January 2017

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

37

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

84-97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

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

4 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Emilin1 links TGF-beta maturation to blood pressure homeostasis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

20 March 2017

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20 March 2017

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Self-assembly and supramolecular organization of EMILIN

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

EMILIN, a component of the elastic fiber and a new member of the C1q/tumor necrosis factor superfamily of proteins

20 March 2017

1 reference

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Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1

20 March 2017

1 reference

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Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

20 March 2017

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The revised Ghent nosology for the Marfan syndrome

20 March 2017

1 reference

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Aneurysm syndromes caused by mutations in the TGF-beta receptor

6 April 2017

1 reference

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EMILIN-1 deficiency induces elastogenesis and vascular cell defects

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

20 March 2017

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Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

7 April 2017

1 reference

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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Clinical exome sequencing for genetic identification of rare Mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Molecular findings among patients referred for clinical whole-exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

TGF-β mediates early angiogenesis and latent fibrosis in an Emilin1-deficient mouse model of aortic valve disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Permanent neonatal diabetes due to a novel insulin signal peptide mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

The EMILIN/Multimerin family.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

EMILIN1-α4/α9 integrin interaction inhibits dermal fibroblast and keratinocyte proliferation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

The unfolded protein response and its relevance to connective tissue diseases.

29 September 2017

1 reference

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29 September 2017

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Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

29 September 2017

1 reference

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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Emilin1 deficiency causes structural and functional defects of lymphatic vasculature.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia

29 September 2017

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29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

The EMILIN protein family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Elastin-Associated Microfibrils and Microfibrillar Proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Protein targeting signals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

A novel luciferase fusion protein for highly sensitive optical imaging: from single-cell analysis to in vivo whole-body bioluminescence imaging

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Glycoprotein 115, a glycoprotein isolated from chick blood vessels, is widely distributed in connective tissue

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738430

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.

28 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22920

The usefulness of whole-exome sequencing in routine clinical practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22920

Signal sequences: more than just greasy peptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22920

Clinical whole exome sequencing in child neurology practice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22920

Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22920

Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum

21 January 2018

1 reference

12 December 2020

Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease

1 reference

12 December 2020

A novel type of mutation at the propeptide cleavage site (AlA+1Thr) causing symptomatic protein C type II deficiency

1 reference

12 December 2020

The protein components of the 12-nanometer microfibrils of elastic and nonelastic tissues

1 reference

12 December 2020

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.22920

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26462740%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

2 references

4 January 2017