Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema

S Martin-Almedina, PS Mortimer… - Physiological …, 2021 - journals.physiology.org
Primary lymphedema is a long-term (chronic) condition characterized by tissue lymph
retention and swelling that can affect any part of the body, although it usually develops in the …

A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis–lymphedema–telangiectasia syndrome

H Wangberg, K Wigby, MC Jones - American Journal of Medical …, 2018 - Wiley Online Library
Hypotrichosis–lymphedema–telangiectasia syndrome (HLTS) is a rare disorder caused by
autosomal recessive and autosomal dominant mutations in SOX18. This gene encodes a …

SOX18 Is a Novel Target Gene of Hedgehog Signaling in Cervical Carcinoma Cell Lines

I Petrovic, M Milivojevic, J Popovic, M Schwirtlich… - PloS one, 2015 - journals.plos.org
Although there is much evidence showing functional relationship between Hedgehog
pathway, in particular Sonic hedgehog, and SOX transcription factors during embryonic …

Influence of miR-7a and miR-24-3p on the SOX18 transcript in lung adenocarcinoma

M Olbromski, A Rzechonek… - Oncology …, 2018 - spandidos-publications.com
The molecular pathogenesis of the development of non-small cell lung carcinomas
(NSCLCs) is extremely complex. Understanding the molecular basis of the development of …

A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity

AJ McCann, J Lou, M Moustaqil, MS Graus… - Nucleic Acids …, 2021 - academic.oup.com
Few genetically dominant mutations involved in human disease have been fully explained at
the molecular level. In cases where the mutant gene encodes a transcription factor, the …

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing

F Bastaki, M Mohamed, P Nair, F Saif, N Tawfiq… - Molecular and cellular …, 2016 - Elsevier
The SOX18 gene encodes a transcription factor that plays a notable role in certain
developmental contexts such as lymphangiogenesis, hair follicle development and …

The role of SOX18 in bladder cancer and its underlying mechanism in mediating cellular functions

Y Huaqi, Q Caipeng, W Qiang, D Yiqing, X Tao - Life sciences, 2019 - Elsevier
Abstract Aims SRY-box 18 (SOX18) is a transcription factor known for its role in regulating
cell differentiation and lymphatic and blood vessel development. It has been reported that …

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)

I Valenzuela, P Fernández-Alvarez, A Plaja… - European Journal of …, 2018 - Elsevier
The transcription factor SOX18 has been shown to play a role in the development of hair,
blood and lymphatic vessels. Mutations in SOX18 result in hereditary lymphedema, with the …

[PDF][PDF] Retinoic acid affects basic cellular processes and SOX2 and SOX18 expression in breast carcinoma cells

I Petrović, M Milivojević, A Arsenijević, A Lazić… - …, 2021 - imagine.imgge.bg.ac.rs
Genetic and molecular heterogeneity, together with intrinsic and acquired resistance to
therapy, represent the major obstacles to the successful treatment of different types of breast …

[PDF][PDF] SOX18 as a Key Factor for Oncogenic Human Virus Replication

P Staab, P Ojala, K Tuohinto - 2024 - helda.helsinki.fi
Kaposi sarcoma (KS) is a cancer characterized by spindle cells thought to originate from
endothelial cells. The most aggressive form is AIDS-related KS, which is one of the most …