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SRY-box containing gene 18

SOX18, R a
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Sox, Sox7, SRY, HAIR, FOXC2
Papers on SOX18
Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.
New
Bassett et al., Toronto, Canada. In Int J Cardiol, Mar 2016
Established and novel candidate susceptibility genes identified included ACKR3, IFT57, ITGB8, KL, NF1, NKX1-2, RERE, SLC8A1, SOX18, and ULK1.
SOX18 knockdown suppresses the proliferation and metastasis, and induces the apoptosis of osteosarcoma cells.
New
Zhang et al., Shanghai, China. In Mol Med Report, Jan 2016
Sex determining region Y‑box 18 (SOX18) has been found to be overexpressed in several types of tumor.
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
New
Preuss et al., Montréal, Canada. In Can J Cardiol, Jan 2016
RESULTS: We identified a novel de novo mutation in the transcription factor SOX18 (c.481C>T:p.Gln161*) in the patient, which was absent in all unaffected family members.
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
New
Hamzeh et al., Dubai, United Arab Emirates. In Mol Cell Probes, Dec 2015
SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS).
Silencing NKD2 by promoter region hypermethylation promotes gastric cancer invasion and metastasis by up-regulating SOX18 in human gastric cancer.
New
Guo et al., Beijing, China. In Oncotarget, Nov 2015
NKD2 inhibits SOX18 and MMP-2,7,9 expression and suppresses BGC823 cell xenograft growth.
Knockdown of SOX18 inhibits the proliferation, migration and invasion of hepatocellular carcinoma cells.
New
Zhao et al., Taiyuan, China. In Oncol Rep, Sep 2015
Recent studies have demonstrated that SOX18 is highly expressed in various types of cancer.
CHD6 regulates the topological arrangement of the CFTR locus.
New
Walsh et al., Los Angeles, United States. In Hum Mol Genet, Jun 2015
Finally, we indicate that CHD6 structurally coordinates a three-dimensional stricture between intragenic elements of CFTR bound by several cell-type specific transcription factors, such as CDX2, SOX18, HNF4α and HNF1α.
SOXE transcription factors form selective dimers on non-compact DNA motifs through multifaceted interactions between dimerization and high-mobility group domains.
Jauch et al., Guangzhou, China. In Sci Rep, 2014
All SOXE members can also heterodimerize in this fashion, whereas SOXE heterodimers with SOX2, SOX4, SOX6 and SOX18 are not supported.
SOX18 Is a Novel Target Gene of Hedgehog Signaling in Cervical Carcinoma Cell Lines.
Stevanovic et al., Belgrade, Serbia. In Plos One, 2014
SOX18 protein plays an important role in promoting tumor angiogenesis and therefore emerged as a promising potential target in antiangiogenic tumor therapy.
The lymphangiogenic factor SOX 18: a key indicator to stage gastric tumor progression.
GeneRIF
Lee et al., South Korea. In Int J Cancer, 2012
of the 679 gastric cancer cases, 177 (26.1%) were positive for SOX 18 expression in their tumor stroma, and the frequencies of both lymphovascular invasion and lymph node metastases were higher in the SOX 18 positive than in the negative group.
Genetic ablation of SOX18 function suppresses tumor lymphangiogenesis and metastasis of melanoma in mice.
GeneRIF
Francois et al., Brisbane, Australia. In Cancer Res, 2012
SOX18 induction is a key step in mediating tumor lymphangiogenesis and metastasis
The transcription factor SOX18 regulates the expression of matrix metalloproteinase 7 and guidance molecules in human endothelial cells.
GeneRIF
de Martin et al., Vienna, Austria. In Plos One, 2011
The identification of MMP7 as a direct SOX18 target gene as well as other potential candidates including guidance molecules provides a molecular basis for the proposed function of this transcription factor in the regulation of vessel formation.
Heterogeneity and degree of TIMP4, GATA4, SOX18, and EGFL7 gene promoter methylation in non-small cell lung cancer and surrounding tissues.
GeneRIF
Sverdlov et al., Moscow, Russia. In Cancer Genet, 2011
Heterogeneous methylation in the promoter region of SOX18 was associated with cancer progression in non-small cell lung cancer.
[Primary lymphedema of limbs].
Review
Tauveron et al., Tours, France. In Presse Med, 2010
It is often associated with mutation in a gene involved in lymphangiogenesis (FOX C2, VEGFR 3, SOX18, PROX 1…).
Sox proteins in melanocyte development and melanoma.
Review
Pavan et al., Bethesda, United States. In Pigment Cell Melanoma Res, 2010
Since then, we have discovered that SOX5, SOX9, SOX10 and SOX18 all participate as transcription factors that affect key melanocytic genes in both regulatory and modulatory fashions.
Sox7 and Sox17 are strain-specific modifiers of the lymphangiogenic defects caused by Sox18 dysfunction in mice.
GeneRIF
Koopman et al., Brisbane, Australia. In Development, 2009
SOX7 and SOX17 are not normally expressed during lymphatic development, excluding a conventional redundancy mechanism with SOX18. Instead, these genes are activated specifically in the absence of SOX18 function, and only in certain strains.
Sox18 induces development of the lymphatic vasculature in mice.
Impact
GeneRIF
Koopman et al., Brisbane, Australia. In Nature, 2009
findings demonstrate a critical role for Sox18 in developmental lymphangiogenesis, and suggest new avenues to investigate for therapeutic management of human lymphangiopathies
Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.
Review
Wang et al., Cleveland, United States. In Cell Mol Life Sci, 2005
Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN.
Update on the molecular genetics of vascular anomalies.
Review
Wang, Cleveland, United States. In Lymphat Res Biol, 2004
These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome.
SOX18 and the transcriptional regulation of blood vessel development.
Review
Koopman et al., Brisbane, Australia. In Trends Cardiovasc Med, 2001
SOX18 is a transcription factor that is transiently expressed in nascent endothelial cells during embryonic development and adult neovascularization.
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