Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency (Q34410196)

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

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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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8 February 2020

Haploinsufficiency

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Marianne Rohrbach

2

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8 February 2020

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8 February 2020

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8 February 2020

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Thierry Carrel

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8 February 2020

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Janine Meienberg

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8 February 2020

Stefan Neuenschwander

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8 February 2020

Katharina Spanaus

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8 February 2020

Sira Alonso

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8 February 2020

Eliane Arnold

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8 February 2020

Caroline Henggeler

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8 February 2020

Stephan Regenass

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8 February 2020

Andrea Patrignani

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8 February 2020

Silvia Azzarello-Burri

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8 February 2020

Bernhard Steiner

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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

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21 July 2010

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8 February 2020

European Journal of Human Genetics

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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

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8 February 2020

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

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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.

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Mechanisms for human genomic rearrangements

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Ehlers-Danlos syndrome type IV

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

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Heterozygous TGFBR2 mutations in Marfan syndrome

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Myostatin mutation associated with gross muscle hypertrophy in a child

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

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Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

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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.

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6 July 2018

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

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6 July 2018

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

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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

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6 July 2018

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

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6 July 2018

The Marfan syndrome

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

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

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

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Revised diagnostic criteria for the Marfan syndrome

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

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

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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

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

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

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Segmental copy number variation shapes tissue transcriptomes

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

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based on heuristic

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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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8 February 2020

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8 February 2020

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