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1

Han, Yu, and Véronique Lefebvre. "L-Sox5 and Sox6 Drive Expression of the Aggrecan Gene in Cartilage by Securing Binding of Sox9 to a Far-Upstream Enhancer." Molecular and Cellular Biology 28, no. 16 (2008): 4999–5013. http://dx.doi.org/10.1128/mcb.00695-08.

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ABSTRACT The Sry-related high-mobility-group box transcription factor Sox9 recruits the redundant L-Sox5 and Sox6 proteins to effect chondrogenesis, but the mode of action of the trio remains unclear. We identify here a highly conserved 359-bp sequence 10 kb upstream of the Agc1 gene for aggrecan, a most essential cartilage proteoglycan and key marker of chondrocyte differentiation. This sequence directs expression of a minimal promoter in both embryonic and adult cartilage in transgenic mice, in a manner that matches Agc1 expression. The chondrogenic trio is required and sufficient to mediate
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Smits, Patrick, Peter Dy, Srijeet Mitra, and Véronique Lefebvre. "Sox5 and Sox6 are needed to develop and maintain source, columnar, and hypertrophic chondrocytes in the cartilage growth plate." Journal of Cell Biology 164, no. 5 (2004): 747–58. http://dx.doi.org/10.1083/jcb.200312045.

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Sox5 and Sox6 encode Sry-related transcription factors that redundantly promote early chondroblast differentiation. Using mouse embryos with three or four null alleles of Sox5 and Sox6, we show that they are also essential and redundant in major steps of growth plate chondrocyte differentiation. Sox5 and Sox6 promote the development of a highly proliferating pool of chondroblasts between the epiphyses and metaphyses of future long bones. This pool is the likely cellular source of growth plates. Sox5 and Sox6 permit formation of growth plate columnar zones by keeping chondroblasts proliferating
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Saad, Eman A., Rana M. Abdalla, and Mona A. Aboelkheir. "Significance of sex-determining region Y box family members (SOX6 and SOX9) in clear cell renal cell carcinoma: immunohistochemical study." Egyptian Journal of Pathology 44, no. 2 (2024): 183–89. https://doi.org/10.4103/egjp.egjp_27_24.

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Background Renal cell carcinoma (RCC) ranks as the third most common urological malignancy worldwide, comprising ~2.2% of all cancers. The clear cell subtype, which accounts for 80–90% of RCC cases, is characterized by a wide spectrum of survival outcomes. The sex-determining region Y box (SOX) family of proteins, expressed in multiple cell types, plays a crucial role in regulating cell differentiation and fate in various physiological contexts. Among them, SOX6 and SOX9 have been implicated in the regulation of carcinogenesis in several human cancers. Aim The primary objective of this study i
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Cantù, Claudio, Rossella Ierardi, Ilaria Alborelli, et al. "Sox6 enhances erythroid differentiation in human erythroid progenitors." Blood 117, no. 13 (2011): 3669–79. http://dx.doi.org/10.1182/blood-2010-04-282350.

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Abstract Sox6 belongs to the Sry (sex-determining region Y)–related high-mobility-group–box family of transcription factors, which control cell-fate specification of many cell types. Here, we explored the role of Sox6 in human erythropoiesis by its overexpression both in the erythroleukemic K562 cell line and in primary erythroid cultures from human cord blood CD34+ cells. Sox6 induced significant erythroid differentiation in both models. K562 cells underwent hemoglobinization and, despite their leukemic origin, died within 9 days after transduction; primary erythroid cultures accelerated thei
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Guimont, Philippe, Francine Grondin, and Claire M. Dubois. "Sox9-dependent transcriptional regulation of the proprotein convertase furin." American Journal of Physiology-Cell Physiology 293, no. 1 (2007): C172—C183. http://dx.doi.org/10.1152/ajpcell.00349.2006.

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The proprotein convertase furin participates in the maturation/bioactivation of a variety of proproteins involved in chondrogenesis events. These include parathyroid hormone-related peptide (PTHrP), an autocrine/paracrine factor that is crucial to both normal cartilage development and cartilage-related pathological processes. Despite the known importance of furin activity in the bioactivation of the polypeptides, the mechanisms that control furin regulation in chondrogenesis remain unknown. To gain insight into the molecular regulation of furin, we used the mouse prechondrogenic ATDC5 cell lin
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Amano, Katsuhiko, Kenji Hata, Atsushi Sugita, et al. "Sox9 Family Members Negatively Regulate Maturation and Calcification of Chondrocytes through Up-Regulation of Parathyroid Hormone–related Protein." Molecular Biology of the Cell 20, no. 21 (2009): 4541–51. http://dx.doi.org/10.1091/mbc.e09-03-0227.

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Sox9 is a transcription factor that plays an essential role in chondrogenesis and has been proposed to inhibit the late stages of endochondral ossification. However, the molecular mechanisms underlying the regulation of chondrocyte maturation and calcification by Sox9 remain unknown. In this study, we attempted to clarify roles of Sox9 in the late stages of chondrocyte differentiation. We found that overexpression of Sox9 alone or Sox9 together with Sox5 and Sox6 (Sox5/6/9) inhibited the maturation and calcification of murine primary chondrocytes and up-regulated parathyroid hormone–related pr
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Binlateh, Thunwa, Supita Tanasawet, Onnicha Rattanaporn, Wanida Sukketsiri, and Pilaiwanwadee Hutamekalin. "Metformin Promotes Neuronal Differentiation via Crosstalk between Cdk5 and Sox6 in Neuroblastoma Cells." Evidence-Based Complementary and Alternative Medicine 2019 (February 19, 2019): 1–13. http://dx.doi.org/10.1155/2019/1765182.

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Metformin has recently emerged as a key player in promotion of neuroblastoma differentiation and neurite outgrowth. However, molecular mechanisms of how metformin promotes cellular differentiation have not yet been fully elucidated. In this study, we investigated how metformin promotes cell differentiation, via an inhibition of cell proliferation, by culturing SH-SY5Y neuroblastoma cells with or without metformin. Pretreatment with reactive oxygen species (ROS) scavenger, NAC, revealed that ROS plays a crucial role in induction of cell differentiation. Cell differentiation was observed under v
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8

Dumitriu, Bogdan, Michael R. Patrick, Jane P. Petschek, et al. "Sox6 cell-autonomously stimulates erythroid cell survival, proliferation, and terminal maturation and is thereby an important enhancer of definitive erythropoiesis during mouse development." Blood 108, no. 4 (2006): 1198–207. http://dx.doi.org/10.1182/blood-2006-02-004184.

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Abstract Erythropoiesis, the essential process of hematopoietic stem cell development into erythrocytes, is controlled by lineage-specific transcription factors that determine cell fate and differentiation and by the hormone erythropoietin that stimulates cell survival and proliferation. Here we identify the Sry-related high-mobility-group (HMG) box transcription factor Sox6 as an important enhancer of definitive erythropoiesis. Sox6 is highly expressed in proerythroblasts and erythroblasts in the fetal liver, neonatal spleen, and bone marrow. Mouse fetuses and pups lacking Sox6 develop erythr
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Haseeb, Abdul, and Véronique Lefebvre. "The SOXE transcription factors—SOX8, SOX9 and SOX10—share a bi-partite transactivation mechanism." Nucleic Acids Research 47, no. 13 (2019): 6917–31. http://dx.doi.org/10.1093/nar/gkz523.

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Abstract SOX8, SOX9 and SOX10 compose the SOXE transcription factor group. They govern cell fate and differentiation in many lineages, and mutations impairing their activity cause severe diseases, including campomelic dysplasia (SOX9), sex determination disorders (SOX8 and SOX9) and Waardenburg-Shah syndrome (SOX10). However, incomplete knowledge of their modes of action limits disease understanding. We here uncover that the proteins share a bipartite transactivation mechanism, whereby a transactivation domain in the middle of the proteins (TAM) synergizes with a C-terminal one (TAC). TAM comp
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10

Li, Yi, Ming Xiao, and Fangchun Guo. "The role of Sox6 and Netrin-1 in ovarian cancer cell growth, invasiveness, and angiogenesis." Tumor Biology 39, no. 5 (2017): 101042831770550. http://dx.doi.org/10.1177/1010428317705508.

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SOX6 plays important roles in cell proliferation, differentiation, and cell fate determination. It has been confirmed that SOX6 is a tumor suppressor and downregulated in various cancers, including esophageal squamous cell carcinoma, hepatocellular carcinoma, and chronic myeloid leukemia. Netrin-1 is highly expressed in various human cancers and acts as an anti-apoptotic and proangiogenic factor to drive tumorigenesis. The role of SOX6 and netrin-1 in regulating the growth of ovarian tumor cells still remains unclear. Real-time polymerase chain reaction and western blot were used to determine
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Zhang, Zihao, Shudai Lin, Wen Luo, et al. "Sox6 Differentially Regulates Inherited Myogenic Abilities and Muscle Fiber Types of Satellite Cells Derived from Fast- and Slow-Type Muscles." International Journal of Molecular Sciences 23, no. 19 (2022): 11327. http://dx.doi.org/10.3390/ijms231911327.

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Adult skeletal muscle is primarily divided into fast and slow-type muscles, which have distinct capacities for regeneration, metabolism and contractibility. Satellite cells plays an important role in adult skeletal muscle. However, the underlying mechanisms of satellite cell myogenesis are poorly understood. We previously found that Sox6 was highly expressed in adult fast-type muscle. Therefore, we aimed to validate the satellite cell myogenesis from different muscle fiber types and investigate the regulation of Sox6 on satellite cell myogenesis. First, we isolated satellite cells from fast- a
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12

Suzuki, Hidetsugu, Yoshiaki Ito, Masahiro Shinohara, et al. "Gene targeting of the transcription factor Mohawk in rats causes heterotopic ossification of Achilles tendon via failed tenogenesis." Proceedings of the National Academy of Sciences 113, no. 28 (2016): 7840–45. http://dx.doi.org/10.1073/pnas.1522054113.

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Cell-based or pharmacological approaches for promoting tendon repair are currently not available because the molecular mechanisms of tendon development and healing are not well understood. Although analysis of knockout mice provides many critical insights, small animals such as mice have some limitations. In particular, precise physiological examination for mechanical load and the ability to obtain a sufficient number of primary tendon cells for molecular biology studies are challenging using mice. Here, we generated Mohawk (Mkx)−/− rats by using CRISPR/Cas9, which showed not only systemic hyp
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13

Anderson, Douglas M., Rajani George, Marcus B. Noyes, et al. "Characterization of the DNA-binding Properties of the Mohawk Homeobox Transcription Factor." Journal of Biological Chemistry 287, no. 42 (2012): 35351–59. http://dx.doi.org/10.1074/jbc.m112.399386.

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The homeobox transcription factor Mohawk (Mkx) is a potent transcriptional repressor expressed in the embryonic precursors of skeletal muscle, cartilage, and bone. MKX has recently been shown to be a critical regulator of musculoskeletal tissue differentiation and gene expression; however, the genetic pathways through which MKX functions and its DNA-binding properties are currently unknown. Using a modified bacterial one-hybrid site selection assay, we determined the core DNA-recognition motif of the mouse monomeric Mkx homeodomain to be A-C-A. Using cell-based assays, we have identified a min
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14

Ji, Jing, Ya-Qin Sun, Zheng Zha, et al. "Bu Shen Yi Sui Capsules Promote Remyelination by Regulating MicroRNA-219 and MicroRNA-338 in Exosomes to Promote Oligodendrocyte Precursor Cell Differentiation." Evidence-Based Complementary and Alternative Medicine 2022 (April 13, 2022): 1–19. http://dx.doi.org/10.1155/2022/3341481.

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Remyelination is a refractory feature of demyelinating diseases such as multiple sclerosis (MS). Studies have shown that promoting oligodendrocyte precursor cell (OPC) differentiation, which cannot be achieved by currently available therapeutic agents, is the key to enhancing remyelination. Bu Shen Yi Sui capsule (BSYSC) is a traditional Chinese herbal medicine over many years of clinical practice. We have found that BSYSC can effectively treat MS. In this study, the effects of BSYSC in promoting OPCs differentiation and remyelination were assessed using an experimental autoimmune encephalomye
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15

Dinh, Minhan L., Yao Dong, and Nobuko Hagiwara. "Evolutionary conservation of the role of Sox6 in terminal differentiation of skeletal muscle." Developmental Biology 344, no. 1 (2010): 533. http://dx.doi.org/10.1016/j.ydbio.2010.05.402.

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Chang, Yao-Jen, Zhifu Kang, Jiayuan Bei, et al. "Generation of TRIM28 Knockout K562 Cells by CRISPR/Cas9 Genome Editing and Characterization of TRIM28-Regulated Gene Expression in Cell Proliferation and Hemoglobin Beta Subunits." International Journal of Molecular Sciences 23, no. 12 (2022): 6839. http://dx.doi.org/10.3390/ijms23126839.

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TRIM28 is a scaffold protein that interacts with DNA-binding proteins and recruits corepressor complexes to cause gene silencing. TRIM28 contributes to physiological functions such as cell growth and differentiation. In the chronic myeloid leukemia cell line K562, we edited TRIM28 using CRISPR/Cas9 technology, and the complete and partial knockout (KO) cell clones were obtained and confirmed using quantitative droplet digital PCR (ddPCR) technology. The amplicon sequencing demonstrated no off-target effects in our gene editing experiments. The TRIM28 KO cells grew slowly and appeared red, seem
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Snyder, Marylynn, Xin-Yun Huang, and J. Jillian Zhang. "Stat3 is essential for neuronal differentiation through direct transcriptional regulation of the Sox6 gene." FEBS Letters 585, no. 1 (2010): 148–52. http://dx.doi.org/10.1016/j.febslet.2010.11.030.

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Shearstone, Jeffrey R., Olga Golonzhka, Apurva Chonkar, and Matthew Jarpe. "Pharmacological Inhibition of Histone Deacetylases 1 and 2 (HDAC1/2) Induces Fetal Hemoglobin (HbF) through Activation of Gata2." Blood 124, no. 21 (2014): 335. http://dx.doi.org/10.1182/blood.v124.21.335.335.

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Abstract Induction of HbF is an established therapeutic strategy for the treatment of sickle cell disease, and could also be effective in treating beta-thalassemia. Genetic ablation of HDAC1 or HDAC2, but not HDAC3, results in the induction of the fetal beta-like globin gene (HbG) transcript (Bradner JE, Proc Natl Acad Sci, 2010). We have previously shown that selective chemical inhibitors of HDAC1/2 elicit a dose and time dependent induction of HbG mRNA and HbF protein in cultured human CD34+ bone marrow cells undergoing erythroid differentiation (Shearstone JS, ASH Annual Meeting Abstracts,
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19

Li, Xianhui, Jiaji Wang, Zhuqing Jia, et al. "MiR-499 Regulates Cell Proliferation and Apoptosis during Late-Stage Cardiac Differentiation via Sox6 and Cyclin D1." PLoS ONE 8, no. 9 (2013): e74504. http://dx.doi.org/10.1371/journal.pone.0074504.

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Li, Wang, Jie Fang, Jingxuan Shen, et al. "MicroRNA-135a-5p promotes neuronal differentiation of pluripotent embryonal carcinoma cells by repressing Sox6/CD44 pathway." Biochemical and Biophysical Research Communications 509, no. 2 (2019): 603–10. http://dx.doi.org/10.1016/j.bbrc.2018.12.162.

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Zhang, Zhilong, Min Chu, Qi Bao, et al. "Two Different Copy Number Variations of the SOX5 and SOX8 Genes in Yak and Their Association with Growth Traits." Animals 12, no. 12 (2022): 1587. http://dx.doi.org/10.3390/ani12121587.

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Copy number variation (CNV) is a structural variant with significant impact on genetic diversity. CNV has been widely used in breeding for growth traits, meat production or quality, and coat color. SRY-like box genes (SOXs) are a class of transcription factors that play a regulatory role in cell fate specification and differentiation. SOX5 and SOX8 belong to subgroups D and E of the SOXs, respectively. Previous studies have shown that SOX5 and SOX8 are essential in the development of bones. In this study, we explored the association between the growth traits and CNVs of SOX5 and SOX8 in 326 As
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Dulmovits, Brian M., Abena O. Appiah-Kubi, Julien Papoin, et al. "Pomalidomide Transcriptionally Reprograms Adult Erythroid Progenitors Independently of Ikaros Proteasomal Degradation." Blood 126, no. 23 (2015): 160. http://dx.doi.org/10.1182/blood.v126.23.160.160.

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Abstract Pomalidomide, a second-generation immunomodulatory drug, is a fetal hemoglobin (HbF) inducing agent with potential implications for the treatment of β-hemoglobinopathies such as sickle cell disease (SCD). However, its mechanism of action remains unknown. Through an in-depth characterization of human erythropoiesis and globin gene regulatory networks, we now provide evidence that pomalidomide alters transcription networks involved in erythropoiesis and globin switching, thereby leading to a partial reprogramming of adult hematopoietic progenitors toward fetal-like erythropoiesis. Adult
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Dulmovits, Brian M., Abena O. Appiah-Kubi, Julien Papoin, et al. "Pomalidomide Modulates Transcription Networks Regulating Human Erythropoiesis and Globin Switching: Implications for Treatment of Hemoglobinopathies." Blood 124, no. 21 (2014): 1375. http://dx.doi.org/10.1182/blood.v124.21.1375.1375.

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Abstract Sickle cell disease (SCD) represents a major challenge in hematology, with approximately 100,000 Americans afflicted and the annual number of newborns with SCD set to rise over the next 40 years worldwide. Current treatment approaches rely on increasing levels of fetal hemoglobin (HbF) to prevent painful vaso-occlusive crises and hemolysis secondary to red cell sickling. Hydroxyurea remains the only pharmacologic intervention approved for SCD; however, it has limited efficacy and carries significant side effects such as myelosuppression. Thus, there is a critical need to develop drugs
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Shearstone, Jeffrey R., John H. van Duzer, Simon S. Jones, and Matthew Jarpe. "Mechanistic Insights Into Fetal Hemoglobin (HbF) Induction Through Chemical Inhibition Of Histone Deacetylase 1 and 2 (HDAC1/2)." Blood 122, no. 21 (2013): 2253. http://dx.doi.org/10.1182/blood.v122.21.2253.2253.

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Abstract Induction of HbF is an established therapeutic strategy for the treatment of sickle cell disease (SCD), and could also be effective in treating beta-thalassemia (bT). Fetal beta-like globin gene (HbG) expression is silenced in adults partly through the nucleosome remodeling and histone deacetylase (NuRD) complex, which contains HDAC1/2 (Sankaran VG, Science, 2008). Genetic ablation of HDAC1 or HDAC2, but not HDAC3, results in the induction of HbG expression (Bradner JE, Proc Natl Acad Sci, 2010). Furthermore, we have previously shown that selective chemical inhibitors of HDAC1 and 2 e
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Lee, Seo-Ho, Dennis M. Bonal, Diana Olguta Treaba, et al. "Sry-Box Transcription Factor 9 (SOX9)-Driven Mesenchymal Stromal Cell Differentiation Signature As a Determinant of Induction Chemotherapy Responsiveness in Acute Myeloid Leukemia Core Bone Marrow Biopsies." Blood 142, Supplement 1 (2023): 4299. http://dx.doi.org/10.1182/blood-2023-189679.

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Leukemic clones in acute myeloid leukemia (AML) alter the bone marrow (BM) microenvironment so that the normal functions of hematopoietic stem cells (HSCs) are interrupted, aiding malignant progression. Accumulating evidence points to a protective role that the microenvironment provides for the AML clone (Colmone et al., Science, 2008). It is therefore crucial to detail the mechanisms by which the BM stroma promotes leukemia progression to inform the development of more effective targeted therapies. Most studies focused on detailing the role of BM stroma in AML etiology use BM aspirates, which
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Kishi, M., K. Mizuseki, N. Sasai, et al. "Requirement of Sox2-mediated signaling for differentiation of early Xenopus neuroectoderm." Development 127, no. 4 (2000): 791–800. http://dx.doi.org/10.1242/dev.127.4.791.

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From early stages of development, Sox2-class transcription factors (Sox1, Sox2 and Sox3) are expressed in neural tissues and sensory epithelia. In this report, we show that Sox2 function is required for neural differentiation of early Xenopus ectoderm. Microinjection of dominant-negative forms of Sox2 (dnSox2) mRNA inhibits neural differentiation of animal caps caused by attenuation of BMP signals. Expression of dnSox2 in developing embryos suppresses expression of N-CAM and regional neural markers. We have analyzed temporal requirement of Sox2-mediated signaling by using an inducible dnSox2 c
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Hamada-Kanazawa, Michiko, Kyoko Ishikawa, Kaori Nomoto, et al. "Sox6 overexpression causes cellular aggregation and the neuronal differentiation of P19 embryonic carcinoma cells in the absence of retinoic acid." FEBS Letters 560, no. 1-3 (2004): 192–98. http://dx.doi.org/10.1016/s0014-5793(04)00086-9.

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Zhao, Youshan, Feng Xu, Juan Guo, Sida Zhao, Chunkang Chang, and Xiao Li. "Dysregulation of ANKRD11 Influenced Hematopoisis By Histone Acetylation-Mediated Gene Expression in Myelodysplastic Syndrome." Blood 128, no. 22 (2016): 4292. http://dx.doi.org/10.1182/blood.v128.22.4292.4292.

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Abstract Background and Object In addition to histone deacetylation, the importance of histone over-acetylation induced oncogene transcription in initiation and progression of myelodysplastic syndrome (MDS) has been proposed recently. Our previous whole-exome sequencing identified a new somatic mutation, ANKRD11, an important factor in histone acetylation regulation. Its roles in MDS pathophysiology need to be clarified. Methods The next generation target sequencing (Including ANKRD11) was carried out in 320 patients with MDS using the MiSeq Benchtop Sequencer. ANKRD11 mRNA expression in bone
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Lebedeva, Olga S., Elena I. Sharova, Dmitriy A. Grekhnev, et al. "An Efficient 2D Protocol for Differentiation of iPSCs into Mature Postmitotic Dopaminergic Neurons: Application for Modeling Parkinson’s Disease." International Journal of Molecular Sciences 24, no. 8 (2023): 7297. http://dx.doi.org/10.3390/ijms24087297.

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About 15% of patients with parkinsonism have a hereditary form of Parkinson’s disease (PD). Studies on the early stages of PD pathogenesis are challenging due to the lack of relevant models. The most promising ones are models based on dopaminergic neurons (DAns) differentiated from induced pluripotent stem cells (iPSCs) of patients with hereditary forms of PD. This work describes a highly efficient 2D protocol for obtaining DAns from iPSCs. The protocol is rather simple, comparable in efficiency with previously published protocols, and does not require viral vectors. The resulting neurons have
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Hamada-Kanazawa, Michiko, Kyoko Ishikawa, Daisuke Ogawa, et al. "Suppression of Sox6 in P19 cells leads to failure of neuronal differentiation by retinoic acid and induces retinoic acid-dependent apoptosis." FEBS Letters 577, no. 1-2 (2004): 60–66. http://dx.doi.org/10.1016/j.febslet.2004.09.063.

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Pongpaksupasin, Phitchapa, Tiwaporn Nualkaew, Suradej Hongeng, Suthat Fucharoen, Natee Jearawiriyapaisarn та Orapan Sripichai. "Lysine-Specific Histone Demethylase 1 Inhibition Enhances Robust Fetal Hemoglobin Induction in Human β0-Thalassemia/Hemoglobin E Rrythroid Cells". Hematology Reports 13, № 4 (2021): 9215. http://dx.doi.org/10.4081/hr.2021.9215.

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Induction of fetal hemoglobin (HbF) ameliorates the clinical severity of β-thalassemias. Histone methyltransferase LSD1 enzyme removes methyl groups from the activating chromatin mark histone 3 lysine 4 at silenced genes, including the γ-globin genes. LSD1 inhibitor RN-1 induces HbF levels in cultured human erythroid cells. Here, the HbF-inducing activity of RN-1 was investigated in erythroid progenitor cells derived from β0-thalassemia/HbE patients. The significant and reproducible increases in γ-globin transcript and HbF expression upon RN-1 treatment was demonstrated in erythroid cells with
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Baričević, Zrinko, Marta Pongrac, Matea Ivaničić, et al. "SOX2 and SOX9 Expression in Developing Postnatal Opossum (Monodelphis domestica) Cortex." Biomolecules 14, no. 1 (2024): 70. http://dx.doi.org/10.3390/biom14010070.

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(1) Background: Central nervous system (CNS) development is characterized by dynamic changes in cell proliferation and differentiation. Key regulators of these transitions are the transcription factors such as SOX2 and SOX9. SOX2 is involved in the maintenance of progenitor cell state and neural stem cell multipotency, while SOX9, expressed in neurogenic niches, plays an important role in neuron/glia switch with predominant expression in astrocytes in the adult brain. (2) Methods: To validate SOX2 and SOX9 expression patterns in developing opossum (Monodelphis domestica) cortex, we used immuno
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Mojsin, Marija, Grujičić Nataša Kovačević, Vićentić Jelena Marjanović, et al. "SOX genes as prognostic markers and potential therapeutic targets in cancer." Biologia Serbica 39, no. 1 (2017): 53–58. https://doi.org/10.5281/zenodo.826890.

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<strong>Summary.</strong> Human <em>SOX</em> genes (SRY-related HMG-box genes) represent a family of transcription factors with essential roles in various developmental processes. They control stem cell pluripotency maintenance, cell fate determination and cell differentiation. In the past decade, the focus on <em>SOX</em> gene research changed from their roles in development to their functions in disease, particularly cancer. The growing amount of data has shown <em>SOX</em> genes to be amplified in various types of cancer. SOX proteins are involved in cancer cell functions through modulation
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Danopoulos, Soula, Irving Alonso, Matthew E. Thornton, et al. "Human lung branching morphogenesis is orchestrated by the spatiotemporal distribution of ACTA2, SOX2, and SOX9." American Journal of Physiology-Lung Cellular and Molecular Physiology 314, no. 1 (2018): L144—L149. http://dx.doi.org/10.1152/ajplung.00379.2017.

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Lung morphogenesis relies on a number of important processes, including proximal-distal patterning, cell proliferation, migration and differentiation, as well as epithelial-mesenchymal interactions. In mouse lung development, SOX2+ cells are localized in the proximal epithelium, whereas SOX9+ cells are present in the distal epithelium. We show that, in human lung, expression of these transcription factors differs, in that during the pseudoglandular stage distal epithelial progenitors at the tips coexpress SOX2 and SOX9. This double-positive population was no longer present by the canalicular s
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Li, Biaoru, Lianghao Ding, Chinrang Yang, Michael Story, and Betty S. Pace. "Transcription Factor Networks Involved in Fetal Stem Cell Erythropoiesis." Blood 120, no. 21 (2012): 3444. http://dx.doi.org/10.1182/blood.v120.21.3444.3444.

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Abstract Abstract 3444 CD34+ fetal stem cells (FSC) are primitive cells which can be isolated from umbilical cord blood. They have hematopoietic potential and can reconstitute the different cell lineages of the bone marrow similar to adult CD34+ stem cells. There are gaps in knowledge related to mechanisms of FSC differentiation which can be used to develop therapy for genetic diseases such as the hemoglobinopathies. Insights into fetal erythropoiesis can be gained by understanding mechanisms of globin gene regulation in the human β-globin locus where five functional genes (ε, Aγ, Gγ, δ, β-glo
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36

Fu, Yu-Hsuan, Lianjun Zhang, Ying-Chieh Chen, et al. "Single-Cell RNA-Seq Reveals Intermediate Cell States and Identifies Features Defining Cellular Heterogeneity in Inv(16) Acute Myeloid Leukemia (AML)." Blood 142, Supplement 1 (2023): 5683. http://dx.doi.org/10.1182/blood-2023-182484.

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AML is an aggressive hematological malignancy with heterogeneous genetic abnormalities. One recurrent chromosomal translocation common in AML is chromosome 16 inversion, inv(16)(p13.1q22), which results in the leukemogenic fusion gene CBFB- MYH11. Using a conditional Cbfb-MYH11 (CM) knock-in mouse model to mimic the somatic expression of the CM fusion gene, we demonstrated that CM expression leads to impaired hematopoietic differentiation as well as accumulation of phenotypic hematopoietic stem cells (HSC) and pre-megakaryocyte/erythrocyte (Pre-Meg/E) progenitors, which are predisposed to leuk
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37

Akinyemi, Mabel O., Jessica Finucan, Anastasia Grytsay, et al. "Molecular Evolution and Inheritance Pattern of Sox Gene Family among Bovidae." Genes 13, no. 10 (2022): 1783. http://dx.doi.org/10.3390/genes13101783.

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Sox genes are an evolutionarily conserved family of transcription factors that play important roles in cellular differentiation and numerous complex developmental processes. In vertebrates, Sox proteins are required for cell fate decisions, morphogenesis, and the control of self-renewal in embryonic and adult stem cells. The Sox gene family has been well-studied in multiple species including humans but there has been scanty or no research into Bovidae. In this study, we conducted a detailed evolutionary analysis of this gene family in Bovidae, including their physicochemical properties, biolog
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38

Treccarichi, Simone, Francesco Calì, Mirella Vinci, et al. "Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders." Current Issues in Molecular Biology 46, no. 7 (2024): 6407–22. http://dx.doi.org/10.3390/cimb46070383.

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SRY-box transcription factor (SOX) genes, a recently discovered gene family, play crucial roles in the regulation of neuronal stem cell proliferation and glial differentiation during nervous system development and neurogenesis. Whole exome sequencing (WES) in patients presenting with generalized epilepsy, intellectual disability, and childhood emotional behavioral disorder, uncovered a de novo variation within SOX12 gene. Notably, this gene has never been associated with neurodevelopmental disorders. No variants in known genes linked with the patient’s symptoms have been detected by the WES Tr
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Stevanović, Milena, Danijela Drakulić, Marija Švirtlih, et al. "SOX2 gene – master regulator of numerous cellular processes." Biologia Serbica 39, no. 1 (2017): 9–15. https://doi.org/10.5281/zenodo.826595.

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<strong>S</strong><strong>ummary.</strong> The SOX (Sry-related HMG box) proteins comprise a group of transcription factors that act as key regulators of diverse developmental and physiological processes, ranging from blastocyst and germ layer formation to differentiation into adult tissues and organs. SOX proteins influence survival and proliferation, as well as cell fate decisions and consecutive lineage progression. Accordingly, SOX proteins are involved in multiple events, from maintenance of stem cells pluripotency, to driving their terminal differentiation into specialized cell types. Th
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40

Steinberg Shemer, Orna, Marta Byrska-Bishop, Jacob C. Ulirsch, et al. "Temporally Distinct Developmental Waves of Erythropoiesis from Human Pluripotent Stem Cells." Blood 126, no. 23 (2015): 1170. http://dx.doi.org/10.1182/blood.v126.23.1170.1170.

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Abstract Mammalian erythropoiesis during embryogenesis occurs in several distinct stages or "waves" that vary according to timing, site of production, gene expression and physiology. The ontogeny of mammalian erythropoiesis is most thoroughly studied in mice where the earliest circulating erythroblasts released from the yolk sac are termed primitive. Later, the first definitive erythroid lineage is established by erythro-myeloid progenitors (EMPs) that originate in the yolk sac and migrate to the fetal liver for terminal differentiation. A second wave of definitive erythropoiesis is establishe
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41

Formeister, Eric J., Ayn L. Sionas, David K. Lorance, Carey L. Barkley, Ginny H. Lee, and Scott T. Magness. "Distinct SOX9 levels differentially mark stem/progenitor populations and enteroendocrine cells of the small intestine epithelium." American Journal of Physiology-Gastrointestinal and Liver Physiology 296, no. 5 (2009): G1108—G1118. http://dx.doi.org/10.1152/ajpgi.00004.2009.

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SOX transcription factors have the capacity to modulate stem/progenitor cell proliferation and differentiation in a dose-dependent manner. SOX9 is expressed in the small intestine epithelial stem cell zone. Therefore, we hypothesized that differential levels of SOX9 may exist, influencing proliferation and/or differentiation of the small intestine epithelium. Sox9 expression levels in the small intestine were investigated using a Sox9 enhanced green fluorescent protein ( Sox9 EGFP) transgenic mouse. Sox9 EGFP levels correlate with endogenous SOX9 levels, which are expressed at two steady-state
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Graham, JD, SM Hunt, N. Tran, and CL Clarke. "Regulation of the expression and activity by progestins of a member of the SOX gene family of transcriptional modulators." Journal of Molecular Endocrinology 22, no. 3 (1999): 295–304. http://dx.doi.org/10.1677/jme.0.0220295.

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The mammalian testis-determining gene Sry and the related Sox genes define a family of transcriptional regulators widely expressed during embryogenesis. Tightly controlled temporal profiles of expression are a feature of the Sox gene family and may be required for initiation of a cascade of gene expression, yet the molecular mechanisms that control Sox gene expression are unknown. We now show that human SOX4 is expressed in the normal breast and in breast cancer cells. In these cells SOX4 is a progesterone-regulated gene, the expression of which is increased by progestins, leading to a marked
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43

Chew, Joon-Lin, Yuin-Han Loh, Wensheng Zhang, et al. "Reciprocal Transcriptional Regulation of Pou5f1 and Sox2 via the Oct4/Sox2 Complex in Embryonic Stem Cells." Molecular and Cellular Biology 25, no. 14 (2005): 6031–46. http://dx.doi.org/10.1128/mcb.25.14.6031-6046.2005.

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ABSTRACT Embryonic stem cells (ESCs) are pluripotent cells that can either self-renew or differentiate into many cell types. Oct4 and Sox2 are transcription factors essential to the pluripotent and self-renewing phenotypes of ESCs. Both factors are upstream in the hierarchy of the transcription regulatory network and are partners in regulating several ESC-specific genes. In ESCs, Sox2 is transcriptionally regulated by an enhancer containing a composite sox-oct element that Oct4 and Sox2 bind in a combinatorial interaction. It has previously been shown that Pou5f1, the Oct4 gene, contains a dis
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de Vasconcellos, Jaira F., Colleen Byrnes, Y. Terry Lee, et al. "Targeted Reduction of Let-7a miRNA Increases Fetal Hemoglobin in Human Adult Erythroblasts." Blood 124, no. 21 (2014): 451. http://dx.doi.org/10.1182/blood.v124.21.451.451.

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Abstract MicroRNAs (miRNAs) are a class of small, noncoding RNAs that bind and regulate target messenger RNAs (mRNAs). The let-7 family consists of twelve genes encoding nine highly conserved miRNAs that are involved in developmental timing events in multicellular organisms. Previous studies showed regulation during the fetal-to-adult transition in the erythroid lineage with significant increases in let-7 miRNAs from adult compared to umbilical cord blood reticulocytes (1). Further studies indicated that reduced expression of let-7 in adult CD34+ cells by “sponge” targeting the miRNA family se
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Lindeman, Robin E., Mark W. Murphy, Kellie S. Agrimson, et al. "The conserved sex regulator DMRT1 recruits SOX9 in sexual cell fate reprogramming." Nucleic Acids Research 49, no. 11 (2021): 6144–64. http://dx.doi.org/10.1093/nar/gkab448.

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Abstract Mammalian sexual development commences when fetal bipotential progenitor cells adopt male Sertoli (in XY) or female granulosa (in XX) gonadal cell fates. Differentiation of these cells involves extensive divergence in chromatin state and gene expression, reflecting distinct roles in sexual differentiation and gametogenesis. Surprisingly, differentiated gonadal cell fates require active maintenance through postnatal life to prevent sexual transdifferentiation and female cell fate can be reprogrammed by ectopic expression of the sex regulator DMRT1. Here we examine how DMRT1 reprograms
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Diks, Sander H., Robert J. Bink, Sandra van de Water, et al. "The novel gene asb11: a regulator of the size of the neural progenitor compartment." Journal of Cell Biology 174, no. 4 (2006): 581–92. http://dx.doi.org/10.1083/jcb.200601081.

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From a differential display designed to isolate genes that are down-regulated upon differentiation of the central nervous system in Danio rerio embryos, we isolated d-asb11 (ankyrin repeat and suppressor of cytokine signaling box–containing protein 11). Knockdown of the d-Asb11 protein altered the expression of neural precursor genes sox2 and sox3 and resulted in an initial relative increase in proneural cell numbers. This was reflected by neurogenin1 expansion followed by premature neuronal differentiation, as demonstrated by HuC labeling and resulting in reduced size of the definitive neuron
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Huang, Kevin Y., and Enrico Petretto. "Cross-species integration of single-cell RNA-seq resolved alveolar-epithelial transitional states in idiopathic pulmonary fibrosis." American Journal of Physiology-Lung Cellular and Molecular Physiology 321, no. 3 (2021): L491—L506. http://dx.doi.org/10.1152/ajplung.00594.2020.

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Single-cell transcriptomics analyses of the fibrotic lung uncovered two cell states critical to lung injury recovery in the alveolar epithelium—a reparative transitional cell state in the mouse and a disease-specific cell state ( KRT5−/ KRT17+) in human idiopathic pulmonary fibrosis (IPF). The murine transitional cell state lies between the differentiation from type 2 (AT2) to type 1 pneumocyte (AT1), and the human KRT5−/ KRT17+ cell state may arise from the dysregulation of this differentiation process. We review major findings of single-cell transcriptomics analyses of the fibrotic lung and
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Wan, HaiXia, Howard C. H. Chow, Tsz-Kan Fung, et al. "Lineage-Specific Sox7 Expression In Hematopoietic Progenitor Cells Derived From Human Umbilical Cord Blood." Blood 116, no. 21 (2010): 4781. http://dx.doi.org/10.1182/blood.v116.21.4781.4781.

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Abstract Abstract 4781 Introduction: The SOX (Sry-related HMG box) genes belong to a family of transcription factors containing a High-Mobility-Group box domain. In an initial screen of SOX genes in human leukemias, SOX7 is uniquely down-regulated in acute myeloid leukemia, myelodysplastic syndrome and chronic myelogenous leukemia but up-regulated in most cases of acute lymphoblastic leukemia. The observation led to the proposition that SOX7 may play a role in lineage differentiation in hematopoiesis. In this study, we examined SOX7 expression in human umbilical cord blood (UCB) with a view to
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Hoffmann, S. A., D. Hos, M. Kuspert, et al. "Stem cell factor Sox2 and its close relative Sox3 have differentiation functions in oligodendrocytes." Development 141, no. 1 (2013): 39–50. http://dx.doi.org/10.1242/dev.098418.

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Manshaei, Saba, Thea L. Willis, Virinder Reen, et al. "RF13 | PMON143 BRF1-Mediated Paracrine Signalling by a Subset of SOX2-Expressing Stem Cells is Required for Normal Development of the Stem Cell Compartment and Terminal Differentiation of Pituitary Committed Progenitors." Journal of the Endocrine Society 6, Supplement_1 (2022): A580—A581. http://dx.doi.org/10.1210/jendso/bvac150.1203.

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Abstract Introduction Hormone-producing pituitary cell lineages are derived from a population of embryonic precursors expressing SOX2. These cells maintain multipotency into early postnatal life, acting as the resident population of pituitary stem cells (PSCs) and contributing extensively to all the endocrine cell lineages. In addition to this direct contribution to pituitary turnover, paracrine signalling from PSCs has been shown to be important for cell proliferation of neighbouring progenitors (PMC7803373). It is not known if SOX2+ PSCs are involved in the regulation of additional cell attr
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