Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia (Q24301631)

4 July 2017

title

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia (English)

1 reference

SRY-box transcription factor 18

4 July 2017

main subject

1 reference

GOA release 2020-03-11

hair cycle process

1 reference

GOA release 2020-03-11

Miikka Vikkula

Miikka

Vikkula

1 reference

4 July 2017

Jean-Pierre Fryns

Jean-Pierre

Fryns

1 reference

PubMed

ORCID Public Data File 2021

19 October 2023

1 reference

Alexandre Irrthum

Alexandre

Irrthum

1 reference

4 July 2017

Koenraad Devriendt

Koenraad

Devriendt

1 reference

4 July 2017

David Chitayat

David

Chitayat

1 reference

4 July 2017

Gert Matthijs

Gert

Matthijs

1 reference

4 July 2017

Conrad Glade

Conrad

Glade

1 reference

4 July 2017

Peter M Steijlen

Peter M

Steijlen

1 reference

4 July 2017

Maurice A M Van Steensel

1 reference

4 July 2017

language of work or name

English

0 references

publication date

8 May 2003

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

1 reference

4 July 2017

1 reference

4 July 2017

page(s)

1470-1478

1 reference

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

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

From head to toes: the multiple facets of Sox proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

A model for gene therapy of human hereditary lymphedema

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Cloning and functional analysis of the Sry-related HMG box gene, Sox18

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Mice null for sox18 are viable and display a mild coat defect

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

SOX7 transcription factor: sequence, chromosomal localisation, expression, transactivation and interference with Wnt signalling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Regulation of Wnt signaling by Sox proteins: XSox17 alpha/beta and XSox3 physically interact with beta-catenin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Analysis of genetic control of chylous ascites in ragged mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Mutations in SOX2 cause anophthalmia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Suppression of tumor lymphangiogenesis and lymph node metastasis by blocking vascular endothelial growth factor receptor 3 signaling.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Truncating mutations in FOXC2 cause multiple lymphedema syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Structure, mapping, and expression of human SOX18.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Juvenile myelomonocytic leukemia and Noonan syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Genetic evidence equating SRY and the testis-determining factor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

VEGFR3 gene structure, regulatory region, and sequence polymorphisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

Induction of tumor lymphangiogenesis by VEGF-C promotes breast cancer metastasis

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180307

From angiogenesis to lymphangiogenesis

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12740761

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12740761

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prevalence of priapism in children and adolescents with sickle cell anemia

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F375614

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/375614

1 reference

release_qtgce5fe2vhmpowsuqj7luf6wm

4 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

2994966

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2994966

1 reference