(Q35436403)

8 August 2017

title

Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations (English)

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8 August 2017

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R P Erickson

1

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8 August 2017

S L Dagenais

2

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8 August 2017

M S Caulder

3

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8 August 2017

C A Downs

4

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8 August 2017

G Herman

5

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8 August 2017

M C Jones

6

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8 August 2017

W S Kerstjens-Frederikse

7

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8 August 2017

A C Lidral

8

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8 August 2017

M McDonald

9

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8 August 2017

C C Nelson

10

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8 August 2017

M Witte

11

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8 August 2017

T W Glover

12

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8 August 2017

language of work or name

English

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publication date

1 November 2001

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

38

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8 August 2017

issue

11

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8 August 2017

page(s)

761-766

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A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Inhibition of lymphangiogenesis with resulting lymphedema in transgenic mice expressing soluble VEGF receptor-3.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Growth factors acting via endothelial cell-specific receptor tyrosine kinases: VEGFs, angiopoietins, and ephrins in vascular development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Mapping of primary congenital lymphedema to the 5q35.3 region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Hyperplasia of lymphatic vessels in VEGF-C transgenic mice

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

VEGF-C receptor binding and pattern of expression with VEGFR-3 suggests a role in lymphatic vascular development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

MFH-1, a new member of the fork head domain family, is expressed in developing mesenchyme

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Contrasting patterns of lymphatic and blood circulatory disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

VEGF-D promotes the metastatic spread of tumor cells via the lymphatics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734771

Vascular endothelial growth factor (VEGF) and VEGF-C show overlapping binding sites in embryonic endothelia and distinct sites in differentiated adult endothelia

26 September 2018

1 reference

12 December 2020

Distichiasis-lymphedema. A hereditary syndrome of multiple congenital defects

1 reference

12 December 2020

Hereditary spinal arachnoid cysts, distichiasis, and lymphedema

1 reference

12 December 2020

Congenital heart disease in patients with primary lymphedemas

1 reference

12 December 2020

Prox1 function is required for the development of the murine lymphatic system

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.11.761

1 reference

8 August 2017

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8 August 2017

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