(Q34410196)

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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648054%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648054%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

haploinsufficiency

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Marianne Rohrbach

2

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8 February 2020

5

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8 February 2020

16

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8 February 2020

14

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Thierry Carrel

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8 February 2020

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Janine Meienberg

1

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8 February 2020

Stefan Neuenschwander

3

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8 February 2020

Katharina Spanaus

4

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8 February 2020

Sira Alonso

6

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8 February 2020

Eliane Arnold

7

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8 February 2020

Caroline Henggeler

8

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8 February 2020

Stephan Regenass

9

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8 February 2020

Andrea Patrignani

10

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8 February 2020

Silvia Azzarello-Burri

11

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8 February 2020

Bernhard Steiner

12

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8 February 2020

Anders O H Nygren

13

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8 February 2020

Beat Steinmann

15

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8 February 2020

publication date

21 July 2010

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8 February 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

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8 February 2020

18

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8 February 2020

12

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8 February 2020

1315-1321

1 reference

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8 February 2020

Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

1 reference

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6 July 2018

Mechanisms for human genomic rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Ehlers-Danlos syndrome type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Myostatin mutation associated with gross muscle hypertrophy in a child

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Development of a functional skin matrix requires deposition of collagen V heterotrimers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

The Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Human recombinant alpha1(V) collagen chain. Homotrimeric assembly and subsequent processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

6 July 2018

Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

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=3002852

28 July 2018

Segmental copy number variation shapes tissue transcriptomes

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27 October 2018

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

27 October 2018

Functional changes in bladder tissue from type III collagen-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

27 October 2018

Genetic and clinical heterogeneity of ferroportin disease.

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27 October 2018

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

27 October 2018

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3002852

27 October 2018

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20648054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20648054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/20648054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20648054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20648054

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.105

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.105

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/EJHG.2010.105

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648054%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648054%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20648054%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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