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https://www.readbyqxmd.com/read/28549040/nordiqc-assessments-of-sox10-immunoassays
#1
Rasmus Røge, Søren Nielsen, Michael Bzorek, Mogens Vyberg
No abstract text is available yet for this article.
May 25, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28548128/genomic-profiling-of-breast-secretory-carcinomas-reveals-distinct-genetics-from-other-breast-cancers-and-similarity-to-mammary-analog-secretory-carcinomas
#2
Gregor Krings, Nancy M Joseph, Gregory R Bean, David Solomon, Courtney Onodera, Eric Talevich, Iwei Yeh, James P Grenert, Elizabeth Hosfield, Emily D Crawford, Richard C Jordan, Annemieke van Zante, Charles Zaloudek, Sandra J Shin, Yunn-Yi Chen
Secretory carcinomas of the breast are rare tumors with distinct histologic features, recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion and indolent clinical behavior. Mammary analog secretory carcinomas arising in other sites are histopathologically similar to the breast tumors and also harbor ETV6-NTRK3 fusions. Breast secretory carcinomas are often triple (estrogen and progesterone receptor, HER2) negative with a basal-like immunophenotype. However, genomic studies are lacking, and whether these tumors share genetic features with other basal and/or triple negative breast cancers is unknown...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#3
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28534044/hsp-and-deafness-neurocristopathy-caused-by-a-novel-mosaic-sox10-mutation
#4
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Ahmet Hoke, Wadih M Zein, Daniel Ezzo, Andrea M Atherton, Ann C Modrcin, Majed Dasouki, A Reghan Foley, Carsten G Bönnemann
OBJECTIVE: To identify the underlying genetic cause in 2 sisters affected with progressive lower extremity spasticity, neuropathy, and early-onset deafness. METHODS: Whole-exome sequencing was performed, and segregation testing of variants was investigated using targeted Sanger sequencing. An inherited paternal mosaic mutation was further evaluated through quantitative analysis of the ratio of mutant vs wild-type allele in genomic DNA from various tissues, including blood, dermal fibroblasts, and saliva...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28512649/purification-and-characterization-of-schwann-cells-from-adult-human-skin-and-nerve
#5
Jo Anne Stratton, Ranjan Kumar, Sarthak Sinha, Prajay Shah, Morgan Stykel, Yuval Shapira, Rajiv Midha, Jeff Biernaskie
Despite its modest capacity for regeneration, peripheral nervous system injury often results in significant long-term disability. Supplementing peripheral nervous system injury with autologous Schwann cells (SCs) may serve to rejuvenate the postinjury environment to enhance regeneration and ultimately improve functional outcomes. However, human nerve-derived SC (hN-SC) collection procedures require invasive surgical resection. Here, we describe the characterization of SCs from adult human skin (hSk-SCs) of four male donors ranging between 27 and 46 years old...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28510278/tfg-met-fusion-in-an-infantile-spindle-cell-sarcoma-with-neural-features
#6
Uta Flucke, Max M van Noesel, Marc Wijnen, Lei Zhang, Chun-Liang Chen, Yun-Shao Sung, Cristina R Antonescu
An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28500913/myb-fusions-and-cd-markers-as-tools-for-authentication-and-purification-of-cancer-stem-cells-from-salivary-adenoid-cystic-carcinoma
#7
Alex Panaccione, Yi Zhang, Molly Ryan, Christopher A Moskaluk, Karen S Anderson, Wendell G Yarbrough, Sergey V Ivanov
Cancer stem cells (CSC) are considered the major cause of aggressive tumor behavior, recurrence, metastases, and resistance to radiation, making them an attractive therapeutic target. However, isolation of CSC from tumor tissue and their characterization are challenging due to uncertainty about their molecular markers and conditions for their propagation. Adenoid cystic carcinoma (ACC), which arises predominantly in the salivary glands, is a slow-growing but relentless tumor that frequently invades nerves and metastasizes...
May 5, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28473753/mechanical-strain-promotes-oligodendrocyte-differentiation-by-global-changes-of-gene-expression
#8
Anna Jagielska, Alexis L Lowe, Ekta Makhija, Liliana Wroblewska, Jochen Guck, Robin J M Franklin, G V Shivashankar, Krystyn J Van Vliet
Differentiation of oligodendrocyte progenitor cells (OPC) to oligodendrocytes and subsequent axon myelination are critical steps in vertebrate central nervous system (CNS) development and regeneration. Growing evidence supports the significance of mechanical factors in oligodendrocyte biology. Here, we explore the effect of mechanical strains within physiological range on OPC proliferation and differentiation, and strain-associated changes in chromatin structure, epigenetics, and gene expression. Sustained tensile strain of 10-15% inhibited OPC proliferation and promoted differentiation into oligodendrocytes...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28455697/the-differentiation-of-skin-mesenchymal-stem-cells-towards-a-schwann-cell-phenotype-impact-of-sigma-1-receptor-activation
#9
L Saulite, E Vavers, L Zvejniece, M Dambrova, U Riekstina
Neural crest stem cells (NCSCs) are the source of mature Schwann cells in the peripheral nervous system (PNS). The NCSC population resides in the bulge of hair follicles and in the dermis. Recently, it was shown that 2-3% of the human dermis mesenchymal stem cell (MSC) population expresses the NCSC marker CD271, thus enabling the use of skin MSCs for studying Schwann cell differentiation in vitro. The aims of this study were to establish a protocol for human skin MSC differentiation towards Schwann cell-like cells (SC-lcs) and to analyse the expression of sigma-1 receptor (S1R) in SC-lcs...
April 28, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28449850/migration-pathways-of-sacral-neural-crest-during-development-of-lower-urogenital-tract-innervation
#10
Carrie B Wiese, Karen K Deal, Sara J Ireland, V Ashley Cantrell, E Michelle Southard-Smith
The migration and fate of cranial and vagal neural crest-derived progenitor cells (NCPCs) have been extensively studied; however, much less is known about sacral NCPCs particularly in regard to their distribution in the urogenital system. To construct a spatiotemporal map of NCPC migration pathways into the developing lower urinary tract, we utilized the Sox10-H2BVenus transgene to visualize NCPCs expressing Sox10. Our aim was to define the relationship of Sox10-expressing NCPCs relative to bladder innervation, smooth muscle differentiation, and vascularization through fetal development into adulthood...
April 24, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28443644/a-reciprocal-regulatory-loop-between-taz-yap-and-g-protein-g%C3%AE-s-regulates-schwann-cell-proliferation-and-myelination
#11
Yaqi Deng, Lai Man Natalie Wu, Shujun Bai, Chuntao Zhao, Haibo Wang, Jincheng Wang, Lingli Xu, Masahide Sakabe, Wenhao Zhou, Mei Xin, Q Richard Lu
Schwann cell (SC) myelination in the peripheral nervous system is essential for motor function, and uncontrolled SC proliferation occurs in cancer. Here, we show that a dual role for Hippo effectors TAZ and YAP in SC proliferation and myelination through modulating G-protein expression and interacting with SOX10, respectively. Developmentally regulated mutagenesis indicates that TAZ/YAP are critical for SC proliferation and differentiation in a stage-dependent manner. Genome-wide occupancy mapping and transcriptome profiling reveal that nuclear TAZ/YAP promote SC proliferation by activating cell cycle regulators, while targeting critical differentiation regulators in cooperation with SOX10 for myelination...
April 26, 2017: Nature Communications
https://www.readbyqxmd.com/read/28435246/cuprous-oxide-nanoparticle-inhibited-melanoma-progress-by-targeting-melanoma-stem-cells
#12
Bin Yu, Ye Wang, Xinlu Yu, Hongxia Zhang, Ji Zhu, Chen Wang, Fei Chen, Changcheng Liu, Jingqiang Wang, Haiying Zhu
Recent studies have shown that metal and metal oxide have a potential function in antitumor therapy. Our previous studies demonstrated that cuprous oxide nanoparticles (CONPs) not only selectively induce apoptosis of tumor cells in vitro but also inhibit the growth and metastasis of melanoma by targeting mitochondria with little hepatic and renal toxicities in mice. As a further study, our current research revealed that CONPs induced apoptosis of human melanoma stem cells (CD271(+/high) cells) in A375 and WM266-4 melanoma cell lines and could significantly suppress the expression of MITF, SOX10 and CD271 involved in the stemness maintenance and tumorigenesis of melanoma stem cells...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28431046/brg1-interacts-with-sox10-to-establish-the-melanocyte-lineage-and-to-promote-differentiation
#13
Himangi G Marathe, Dawn E Watkins-Chow, Matthias Weider, Alana Hoffmann, Gaurav Mehta, Archit Trivedi, Shweta Aras, Tupa Basuroy, Aanchal Mehrotra, Dorothy C Bennett, Michael Wegner, William J Pavan, Ivana L de la Serna
Mutations in SOX10 cause neurocristopathies which display varying degrees of hypopigmentation. Using a sensitized mutagenesis screen, we identified Smarca4 as a modifier gene that exacerbates the phenotypic severity of Sox10 haplo-insufficient mice. Conditional deletion of Smarca4 in SOX10 expressing cells resulted in reduced numbers of cranial and ventral trunk melanoblasts. To define the requirement for the Smarca4 -encoded BRG1 subunit of the SWI/SNF chromatin remodeling complex, we employed in vitro models of melanocyte differentiation in which induction of melanocyte-specific gene expression is closely linked to chromatin alterations...
April 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28423538/gene-regulatory-pattern-analysis-reveals-essential-role-of-core-transcriptional-factors-activation-in-triple-negative-breast-cancer
#14
Li Min, Cheng Zhang, Like Qu, Jialiang Huang, Lan Jiang, Jiafei Liu, Luca Pinello, Guo-Cheng Yuan, Chengchao Shou
BACKGROUND: Triple-negative breast cancer (TNBC) is an aggressive breast cancer subtype. Genome-scale molecular characteristics and regulatory mechanisms that distinguish TNBC from other subtypes remain incompletely characterized. RESULTS: By combining gene expression analysis and PANDA network, we defined three different TF regulatory patterns. A core TNBC-Specific TF Activation Driven Pattern (TNBCac) was specifically identified in TNBC by computational analysis...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28420791/adult-enteric-nervous-system-in-health-is-maintained-by-a-dynamic-balance-between-neuronal-apoptosis-and-neurogenesis
#15
Subhash Kulkarni, Maria-Adelaide Micci, Jenna Leser, Changsik Shin, Shiue-Cheng Tang, Ya-Yuan Fu, Liansheng Liu, Qian Li, Monalee Saha, Cuiping Li, Grigori Enikolopov, Laren Becker, Nikolai Rakhilin, Michael Anderson, Xiling Shen, Xinzhong Dong, Manish J Butte, Hongjun Song, E Michelle Southard-Smith, Raj P Kapur, Milena Bogunovic, Pankaj J Pasricha
According to current dogma, there is little or no ongoing neurogenesis in the fully developed adult enteric nervous system. This lack of neurogenesis leaves unanswered the question of how enteric neuronal populations are maintained in adult guts, given previous reports of ongoing neuronal death. Here, we confirm that despite ongoing neuronal cell loss because of apoptosis in the myenteric ganglia of the adult small intestine, total myenteric neuronal numbers remain constant. This observed neuronal homeostasis is maintained by new neurons formed in vivo from dividing precursor cells that are located within myenteric ganglia and express both Nestin and p75NTR, but not the pan-glial marker Sox10...
May 2, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28412212/mucoepidermoid-carcinoma-with-extensive-spindled-morphology-and-melanocytic-marker-expression
#16
Takashi Oide, Kenzo Hiroshima, Yoko Takahashi, Kazunori Fugo, Masanobu Yamatoji, Atsushi Kasamatsu, Yosuke Endo-Sakamoto, Masashi Shiiba, Katsuhiro Uzawa, Hideki Tanzawa, Toshitaka Nagao, Yukio Nakatani
Mucoepidermoid carcinoma (MEC) is the most common malignant neoplasm of the salivary gland. Albeit common, histological variants have rarely been noted in MEC. Here, we report a 49-year-old man with a sublingual gland tumor. Histologically, the tumor was composed of spindle cells arranged in interlacing fascicules or globular nests. A few bland small glands containing mucous cells were also scattered. The spindle tumor cells completely lacked immunoreactivity for cytokeratin, and exhibited immunoreactivity for vimentin, S-100, HMB-45, Melan A, and SOX10...
April 12, 2017: Human Pathology
https://www.readbyqxmd.com/read/28395065/on-ependymomas-and-sox10
#17
Roman Mezencev, Marián Švajdler
No abstract text is available yet for this article.
February 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28394798/sox10-and-dog1-expression-in-primary-adnexal-tumors-of-the-skin
#18
Cecilia Lezcano, Jonhan Ho, Raja R Seethala
Primary skin adnexal tumors can be challenging to classify and must be discerned from cutaneous adenocarcinoma metastases from various sites. We evaluated expression of Sox10 and DOG1 in normal cutaneous adnexa and in 194 primary skin adnexal tumors, and compared their performance in discriminating primary skin adnexal tumors from cutaneous metastatic adenocarcinomas with that of p40 and p63. In normal skin adnexa, we noted Sox10 expression in both the secretory and myoepithelial cells in eccrine glands, but only in myoepithelial cells in apocrine glands...
March 27, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28390600/sox10-mutation-causes-waardenburg-syndrome-associated-with-distinctive-phenotypic-features-in-an-iranian-family-a-clue-for-phenotype-directed-genetic-analysis
#19
Nazanin Jalilian, Mohammad Amin Tabatabaiefar, Hossein Alimadadi, Mohammad Reza Noori-Daloii
BACKGROUND: Waardenburg syndrome (WS) is a neurocristopathy characterized by hearing impairment and pigmentary disturbances in hair, eyes, and skin. WS is clinically heterogeneous and can be subdivided into four major types (WS1-WS4) where WS4 or Shah-Waardenburg is diagnosed when WS2 is accompanied by Hirschsprung disease (HD). Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4. This study was aimed to determine the pathogenic variant in an Iranian pedigree affected with WS4...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28374892/in-vitro-adult-astrocytes-are-derived-from-mature-cells-and-reproduce-in-vivo-redox-profile
#20
Débora Guerini Souza, Bruna Bellaver, Silvia Resende Terra, Fatima Costa Rodrigues Guma, Diogo Onofre Souza, André Quincozes-Santos
Astrocytes are versatile cells involved in synaptic information processing, energy metabolism, redox homeostasis, inflammatory response and structural support of the brain. Recently, we established a routine protocol of cultured astrocytes derived from adult and aged Wistar rats, which present several different responses compared to newborn astrocytes, commonly used to characterize the role of the astrocytes in the central nervous system. Previous studies hypothesized that astrocyte cultures prepared from adult animals derive from immature precursors present in the adult tissue throughout life...
April 4, 2017: Journal of Cellular Biochemistry
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