(Q36817312)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23602711%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

case report

0 references

title

Mutations in ANTXR1 cause GAPO syndrome (English)

1 reference

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29 February 2020

1

1 reference

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29 February 2020

Hana Hartmannová

3

1 reference

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29 February 2020

Maha Zaki

4

1 reference

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29 February 2020

Lenka Noskova

7

1 reference

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29 February 2020

Veronika Barešová

8

1 reference

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29 February 2020

Anna Přistoupilová

9

1 reference

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29 February 2020

Kateřina Hodaňová

10

1 reference

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29 February 2020

Helena Hůlková

12

1 reference

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29 February 2020

Lenka Piherová

13

1 reference

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29 February 2020

Jiri Zeman

18

1 reference

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29 February 2020

Pavel Martásek

19

1 reference

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29 February 2020

Alice Baxová

20

1 reference

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29 February 2020

Hanan H. Afifi

21

1 reference

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29 February 2020

Samia A Temtamy

24

1 reference

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29 February 2020

23

Han G Brunner

1 reference

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29 February 2020

11

Jana Sovová

1 reference

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29 February 2020

author name string

Amit Chaudhary

5

1 reference

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29 February 2020

Enrique Zudaire

6

1 reference

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29 February 2020

Jayne Y Hehir-Kwa

14

1 reference

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29 February 2020

Deepthi de Silva

15

1 reference

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29 February 2020

Manouri P Senanayake

16

1 reference

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29 February 2020

Sameh Farrag

17

1 reference

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29 February 2020

Brad St Croix

22

1 reference

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29 February 2020

Stanislav Kmoch

25

1 reference

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29 February 2020

Alexander Hoischen

2

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

18 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23602711%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 February 2020

published in

1 reference

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29 February 2020

volume

92

1 reference

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29 February 2020

issue

5

1 reference

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29 February 2020

page(s)

792-799

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23602711%20AND%20SRC:MED&resulttype=core&format=json

Broad expression analysis of human ANTXR1/TEM8 transcripts reveals differential expression and novel splizce variants

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Selective blockade of tumor angiogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Tumor endothelial marker 8 amplifies canonical Wnt signaling in blood vessels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

The cell surface structure of tumor endothelial marker 8 (TEM8) is regulated by the actin cytoskeleton

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Exome sequencing identifies WDR35 variants involved in Sensenbrenner 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=3644626

GAPO syndrome: a report of two siblings and a review of literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Endosomal recycling regulates Anthrax Toxin Receptor 1/Tumor Endothelial Marker 8-dependent cell spreading.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Unexpected matrix diseases and novel therapeutic strategies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Host-derived tumor endothelial marker 8 promotes the growth of melanoma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Capillary morphogenesis protein-2 is the major receptor mediating lethality of anthrax toxin in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Elevated levels of tumour endothelial marker-8 in human breast cancer and its clinical significance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Anthrax toxin receptor 1/tumor endothelium marker 8 mediates cell spreading by coupling extracellular ligands to the actin cytoskeleton

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

TEM8 expression stimulates endothelial cell adhesion and migration by regulating cell-matrix interactions on collagen

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

ESEfinder: A web resource to identify exonic splicing enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Cell surface tumor endothelium marker 8 cytoplasmic tail-independent anthrax toxin binding, proteolytic processing, oligomer formation, and internalization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Identification of the cellular receptor for anthrax toxin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Cell surface tumor endothelial markers are conserved in mice and humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Genes expressed in human tumor endothelium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

Anesthetic management of a patient with GAPO syndrome for glaucoma surgery.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

TEM8 interacts with the cleaved C5 domain of collagen alpha 3(VI).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

GAPO syndrome (Radiographic clues to early diagnosis).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

GAPO syndrome (McKusick 23074)—A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644626

4 December 2018

1 reference

12 December 2020

GAPO syndrome associated with dilated cardiomyopathy: an unreported association

1 reference

12 December 2020

GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism

1 reference

12 December 2020

GAPO syndrome associated with craniofacial vascular malformation

1 reference

12 December 2020

GAPO syndrome: a case associated with bilateral interstitial keratitis and hypothyroidism

1 reference

12 December 2020

10.1016/J.AJHG.2013.03.023

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23602711%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23602711%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23602711%20AND%20SRC:MED&resulttype=core&format=json