Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. (Q35397090)

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English	Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.	scientific article

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scholarly article

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22 February 2020

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4 September 2020

6 February 2021

28 November 2023

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review (English)

1 reference

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22 February 2020

joint instability

1 reference

14 September 2019

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14 September 2019

vascular malformation

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14 July 2020

4 September 2020

6 February 2021

missense mutation

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14 September 2019

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10 October 2019

glucose transporters

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28 November 2019

infant respiratory distress syndrome

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14 July 2020

newborn respiratory distress syndrome

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4 September 2020

perinatal disease

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6 February 2021

arterial tortuosity syndrome

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based on heuristic

inferred from title

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based on heuristic

inferred from title

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based on heuristic

inferred from title

1

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22 February 2020

Nicola Chiarelli

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Maria Giovanna Russo

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22 February 2020

Piergiacomo Calzavara-Pinton

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22 February 2020

Ornella Milanesi

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22 February 2020

Gioacchino Scarano

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Gioacchino Scarano

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author name string

Chiara Dordoni

3

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22 February 2020

Elena Reffo

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22 February 2020

Marina Venturini

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22 February 2020

Stefano Quinzani

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22 February 2020

Matteo Della Monica

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22 February 2020

Giuseppe Santoro

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22 February 2020

language of work or name

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publication date

6 November 2014

16 references

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14 July 2020

4 September 2020

6 February 2021

28 November 2023

BMC Medical Genetics

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20 June 2019

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copyright license

Creative Commons Attribution

15 references

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copyright status

0 references

on focus list of Wikimedia project

0 references

https://scigraph.springernature.com/pub.10.1186/s12881-014-0122-5

0 references

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

1 reference

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12 July 2018

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Early outcomes of total pulmonary arterial reconstruction in patients with arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Arterial tortuosity syndrome in two Italian paediatric patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Sequence and functional analysis of GLUT10: a glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Clinicopathologic findings in congenital aneurysms of the great vessels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Four sibs with arterial tortuosity: description and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Diffuse Tortuosity and Lengthening of the Arteries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

12 July 2018

Successful outcome in pregnancy with arterial tortuosity syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

26 September 2018

A neonate with cyanosis and tortuous great arteries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

26 September 2018

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin

1 reference

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26 September 2018

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

26 September 2018

Hybrid approach in a case of arterial tortuosity syndrome

1 reference

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26 September 2018

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

26 September 2018

Three new families with arterial tortuosity syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4412100

26 September 2018

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0122-5

21 January 2018

Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vascular abnormalities in congenital generalized elastolysis (cutis laxa): report of a case

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sweet link between TGFbeta and vascular disease?

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arterial tortuosity syndrome: case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Successful surgical pulmonary artery reconstruction in arterial tortuosity syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of candidate genes in a family with arterial tortuosity syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arterial tortuosity syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial aggregation of a "new" connective-tissue disorder: a nosologic problem

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity

1 reference

https://pubmed.ncbi.nlm.nih.gov/25373504

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S12881-014-0122-5

1 reference

Europe PubMed Central

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22 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373504%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25373504%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

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