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SRY-box containing gene 5

Sox5, L-Sox5
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. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: Sox, Sox6, COL2A1, CAN, SRY
Papers on Sox5
PSCA acts as a tumor suppressor by facilitating the nuclear translocation of RB1CC1 in esophageal squamous cell carcinoma.
Fu et al., Hong Kong, Hong Kong. In Carcinogenesis, Feb 2016
Here, we reported decreased expression of PSCA in 188/218 (86.2%) of primary ESCC cases and was negatively regulated by its transcription factor SOX5 which was significantly associated with the poor differentiation (p = 0.003), increased lymph node metastasis (p < 0.0001), advanced stage (p = 0.007) and disease-specific survival (p < 0.0001), but not associated with the recently reported transcrible rs2294008 (C>T) polymorphism in ESCC.
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Santani et al., Philadelphia, United States. In Am J Med Genet A, Nov 2015
The SOX5 haploinsufficiency syndrome is characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features.
Integrative analysis of genome-wide association studies and gene expression profiles identified candidate genes for osteoporosis in Kashin-Beck disease patients.
Zhang et al., Xi'an, China. In Osteoporos Int, Nov 2015
GWAS meta-analysis identified six candidate genes with pleiotropic effects, including PDGFD, SOX5, DPYD, CTR9, SPP1, and COL4A1.
Multifaceted roles of 5'-regulatory region of the cancer associated gene B4GALT1 and its comparison with the gene family.
Srivenugopal et al., Amarillo, United States. In Int J Oncol, Oct 2015
The 5'-regulatory axis of B4GALT1 also included five more novel TFBSs for CTCF, GLI1, TCF7L2, GATA3 and SOX5, in addition to unique (TG)18 repeats in conjunction with 22 nucleotide TG-associated sequence (TGAS).
Novel genetic causes for cerebral visual impairment.
de Vries et al., Nijmegen, Netherlands. In Eur J Hum Genet, Oct 2015
In addition, in 11 patients (44%) with CVI, variants in one or more candidate genes were identified (ACP6, AMOT, ARHGEF10L, ATP6V1A, DCAF6, DLG4, GABRB2, GRIN1, GRIN2B, KCNQ3, KCTD19, RERE, SLC1A1, SLC25A16, SLC35A2, SOX5, UFSP2, UHMK1, ZFP30).
[Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].
Rodríguez-Revenga et al., Cáceres, Spain. In Rev Neurol, Jun 2015
Abstract available from the publisher.
Gradient Fractionated Separation of Chondrogenically Committed Cells Derived from Human Embryonic Stem Cells.
Lysdahl et al., Århus, Denmark. In Biores Open Access, 2014
In general, we found that the chondrogenic condition compared with the control condition had a significant effect on the following gene expression levels: NANOG, OCT4, SOX5, SOX9, ACAN, and COL2A1 in all fractions.
Cartilage development requires the function of Estrogen-related receptor alpha that directly regulates sox9 expression in zebrafish.
Park et al., Iksan, South Korea. In Sci Rep, 2014
Loss of function analysis shows that knockdown of esrra impairs expression of genes including sox9, col2a1, sox5, sox6, runx2 and col10a1 thus induces abnormally formed cartilage in pharyngeal arches.
Screening feature genes of lung carcinoma with DNA microarray analysis.
Yuan et al., Wuhan, China. In Int J Clin Exp Med, 2014
The transcription biding site analysis showed that these genes were regulated by LHX3, HNF3B, CDP, HFH1, FOXO4, STAT, SOX5, MEF2, FOXO3 and SRY.
Transcriptional dysregulation of neocortical circuit assembly in ASD.
Kwan, Ann Arbor, United States. In Int Rev Neurobiol, 2012
Many of these TFs (TBR1, SOX5, FEZF2, and SATB2) have been implicated in ASD.
L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity.
Asahara et al., Tokyo, Japan. In J Biol Chem, 2012
L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity
Cis-regulatory control of corticospinal system development and evolution.
Sestan et al., New Haven, United States. In Nature, 2012
We find that SOX4 and SOX11 functionally compete with the repressor SOX5 in the transactivation of E4.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Shaffer et al., Spokane, United States. In Hum Mutat, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
Sha et al., Nanjing, China. In Nat Genet, 2012
P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1:
MiR-194 regulates chondrogenic differentiation of human adipose-derived stem cells by targeting Sox5.
Yu et al., Guangzhou, China. In Plos One, 2011
MiR-194 regulates chondrogenic differentiation of adipose-derived stem cells by targeting Sox5
SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development.
Mariani et al., Boston, United States. In Am J Respir Crit Care Med, 2011
Genetic variation in the transcription factor SOX5 is associated with COPD susceptibility
SOX trio decrease in the articular cartilage with the advancement of osteoarthritis.
Im et al., South Korea. In Connect Tissue Res, 2010
SOX trio gene and protein decreased with advancement of osteoarthritis in human articular cartilage.
Sox proteins in melanocyte development and melanoma.
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.
Genome-wide association study of PR interval.
Heckbert et al., München, Germany. In Nat Genet, 2010
Six of the loci were near cardiac developmental genes, including CAV1-CAV2, NKX2-5 (CSX1), SOX5, WNT11, MEIS1, and TBX5-TBX3, providing pathophysiologically interesting candidate genes.
Molecular mechanism of osteochondroprogenitor fate determination during bone formation.
Bünger et al., Århus, Denmark. In Adv Exp Med Biol, 2005
Sox9, together with L-Sox5 and Sox6, of the Sox family is required for chondrogenic differentiation commitment, while Runx2/Cbfa 1, a member of runt family and Osterix/Osx, a novel zinc finger-containing transcription factor play a pivotal role in osteoblast differentiation decision and hypertrophic chondrocyte maturation.
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