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https://www.readbyqxmd.com/read/28340171/immunohistochemical-approach-to-the-differential-diagnosis-of-meningiomas-and-their-mimics
#1
Camille Boulagnon-Rombi, Clémence Fleury, Caroline Fichel, Sophie Lefour, Aude Marchal Bressenot, Guillaume Gauchotte
The differential diagnosis between meningioma and others tumors can be challenging. This study aimed to evaluate different immunohistochemical markers for the differential diagnosis between meningioma and their morphological mimics. Immunohistochemistry was performed on tissue microarray with antiepithelial membrane antigen (EMA), progesterone receptor, somatostatin receptor 2A (SSTR2A), CD34, STAT6, S100, SOX10, HMB45, MelanA, GFAP, inhibin, and BCL2 antibodies. One hundred and twenty-seven meningiomas, 26 solitary fibrous tumor/hemangiopericytomas (SFT/HPC), 39 schwannomas, 17 hemangioblastomas, 21 melanomas, 9 gliosarcomas, 5 neurofibromas, 9 peripheral primitive neuroectodermal tumors, 7 synovial sarcomas, and 5 malignant peripheral nerve sheath tumors were included in the microarray...
March 14, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28328136/22q11-2q13-duplication-including-sox10-causes-sex-reversal-and-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-hirschsprung-disease
#2
Nadia Falah, Jennifer E Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R Lupski, Tamar Harel
Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28302385/primary-cutaneous-interdigitating-dendritic-cell-sarcoma-is-a-morphologic-and-phenotypic-simulator-of-poorly-differentiated-metastatic-melanoma-a-report-of-2-cases-and-review-of-the-literature
#3
REVIEW
Cynthia M Magro, Luke C Olson, Gerard Nuovo, Garron J Solomon
Interdigitating dendritic cell sarcoma (IDS) is a rare form of hematologic malignancy associated with an aggressive clinical course. Only 4 prior cases have been described as originating in the skin. We encountered two male patients ages 47 and 61years of age who presented with solitary cutaneous neoplasms diagnosed as IDS. Histologic exam showed a coalescing nested and multinodular proliferation of large pleomorphic epithelioid cells. In one case an initial diagnosis of melanoma was rendered. A recurrence 8months later was then interpreted as a primary cutaneous IDS...
February 20, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28282952/a%C3%A2-frameshift%C3%A2-mutation%C3%A2-in%C3%A2-kit%C3%A2-is%C3%A2-associated%C3%A2-with%C3%A2-white%C3%A2-spotting%C3%A2-in%C3%A2-the%C3%A2-arabian%C3%A2-camel
#4
Heather Holl, Ramiro Isaza, Yasmin Mohamoud, Ayeda Ahmed, Faisal Almathen, Cherifi Youcef, Semir Gaouar, Douglas F Antczak, Samantha Brooks
While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with health disorders. Though mutations have been found in a diverse array of species, fewer than 30 genes have been associated with spotting patterns, thus providing a key set of candidate genes for the Arabian camel...
March 9, 2017: Genes
https://www.readbyqxmd.com/read/28280459/arundic-acid-prevents-developmental-upregulation-of-s100b-expression-and-inhibits-enteric-glial-development
#5
Marlene M Hao, Elena Capoccia, Carla Cirillo, Werend Boesmans, Pieter Vanden Berghe
S100B is expressed in various types of glial cells and is involved in regulating many aspects of their function. However, little is known about its role during nervous system development. In this study, we investigated the effect of inhibiting the onset of S100B synthesis in the development of the enteric nervous system, a network of neurons and glia located in the wall of the gut that is vital for control of gastrointestinal function. Intact gut explants were taken from embryonic day (E)13.5 mice, the day before the first immunohistochemical detection of S100B, and cultured in the presence of arundic acid, an inhibitor of S100B synthesis, for 48 h...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28276298/a-scoring-system-to-predict-the-severity-of-hirschsprung-disease-at-diagnosis-and-its-correlation-with-molecular-genetics
#6
Raquel Núñez-Ramos, Raquel M Fernández, Miguel González-Velasco, Jesús Ruiz-Contreras, Enrique Galán-Gómez, Ramón Núñez-Núñez, Salud Borrego
Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Methods We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and nonsevere disease according to the number of surgical procedures, hospitalization time, and episodes of enterocolitis...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28261273/capacity-of-human-dental-follicle-cells-to-differentiate-into-neural-cells-in-vitro
#7
Shingo Kanao, Naomi Ogura, Kosuke Takahashi, Ko Ito, Masaaki Suemitsu, Kayo Kuyama, Toshirou Kondoh
The dental follicle is an ectomesenchymal tissue surrounding the developing tooth germ. Human dental follicle cells (hDFCs) have the capacity to commit to differentiation into multiple cell types. Here we investigated the capacity of hDFCs to differentiate into neural cells and the efficiency of a two-step strategy involving floating neurosphere-like bodies for neural differentiation. Undifferentiated hDFCs showed a spindle-like morphology and were positive for neural markers such as nestin, β-III-tubulin, and S100β...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28258492/sox10-is-over-expressed-in-bladder-cancer-and-contributes-to-the-malignant-bladder-cancer-cell-behaviors
#8
H Yin, C Qin, Y Zhao, Y Du, Z Sheng, Q Wang, Q Song, L Chen, C Liu, T Xu
PURPOSE: To detect the expression level and significance of SOX10 in human bladder cancer. METHODS: Immunohistochemical analyses were performed to assess SOX10 protein level using a bladder cancer tissue microarray (including 59 spots of cancer tissues and 46 spots of paired normal tissues) and 31 specimens and to define the relationship between SOX10 and clinicopathological bladder cancer characteristics in patients. SOX10 protein and mRNA levels in bladder cancer cell lines (T24, 5637, BIU87, EJ) and transitional cell papilloma cell line (RT4) were tested by western blotting and quantitative real-time PCR (q-PCR), respectively...
March 3, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28256528/human-eyelid-adipose-tissue-derived-schwann-cells-promote-regeneration-of-a-transected-sciatic-nerve
#9
Gangyang Wang, Lingling Cao, Yang Wang, Yingqi Hua, Zhengdong Cai, Jun Chen, Lulu Chen, Yuqing Jin, Lina Niu, Hua Shen, Yan Lu, Zunli Shen
Schwann cells (SCs) can promote the regeneration of injured peripheral nerves while the clinical application is limited by donor site complications and the inability to generate an ample amount of cells. In this study, we have isolated human eyelid adipose-derived Schwann cells (hE-SCs) from human eyelid adipose tissue and identified the cell phenotype and function. Using immunofluorescence and H &E staining, we detected subtle nerve fibers and SCs in human eyelid adipose tissue. Immunofluorescence staining indicated that hE-SCs expressed glial markers, such as S100, p75NTR GFAP, Sox10 and Krox20...
March 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28253350/sox10-contributes-to-the-balance-of-fate-choice-in-dorsal-root-ganglion-progenitors
#10
Mariana Delfino-Machín, Romain Madelaine, Giorgia Busolin, Masataka Nikaido, Sarah Colanesi, Karen Camargo-Sosa, Edward W P Law, Stefano Toppo, Patrick Blader, Natascia Tiso, Robert N Kelsh
The development of functional peripheral ganglia requires a balance of specification of both neuronal and glial components. In the developing dorsal root ganglia (DRGs), these components form from partially-restricted bipotent neuroglial precursors derived from the neural crest. Work in mouse and chick has identified several factors, including Delta/Notch signaling, required for specification of a balance of these components. We have previously shown in zebrafish that the Sry-related HMG domain transcription factor, Sox10, plays an unexpected, but crucial, role in sensory neuron fate specification in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28248716/intraepithelial-melanoma-in-the-stomach-after-treatment-with-immune-checkpoint-blockade-therapy
#11
Elina Shustef, Carlos A Torres-Cabala, Jonathan L Curry, Michael T Tetzlaff, Priyadharsini Nagarajan, Doina Ivan, Victor G Prieto, Phyu P Aung
Melanoma is the most common tumor to metastasize to the gastrointestinal tract, commonly affecting the small intestine, colon, and anorectum. Primary mucosal melanoma can arise in any gastrointestinal site, most frequently affecting anorectal mucosa. Melanoma involving the gastric mucosa, specifically, is exceedingly rare and carries a poor prognosis with a median survival of 5 months. The presence of atypical melanocytes exclusively within gastric epithelium has not been previously described. We report a case of a 52-year-old man with widespread BRAFV600E mutant metastatic melanoma who was referred to our institution for immune checkpoint antibody-blockade therapy...
February 23, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28246330/rapid-and-efficient-generation-of-oligodendrocytes-from-human-induced-pluripotent-stem-cells-using-transcription-factors
#12
Marc Ehrlich, Sabah Mozafari, Michael Glatza, Laura Starost, Sergiy Velychko, Anna-Lena Hallmann, Qiao-Ling Cui, Axel Schambach, Kee-Pyo Kim, Corinne Bachelin, Antoine Marteyn, Gunnar Hargus, Radia Marie Johnson, Jack Antel, Jared Sterneckert, Holm Zaehres, Hans R Schöler, Anne Baron-Van Evercooren, Tanja Kuhlmann
Rapid and efficient protocols to generate oligodendrocytes (OL) from human induced pluripotent stem cells (iPSC) are currently lacking, but may be a key technology to understand the biology of myelin diseases and to develop treatments for such disorders. Here, we demonstrate that the induction of three transcription factors (SOX10, OLIG2, NKX6.2) in iPSC-derived neural progenitor cells is sufficient to rapidly generate O4(+) OL with an efficiency of up to 70% in 28 d and a global gene-expression profile comparable to primary human OL...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28236341/ednrb-mutations-cause-waardenburg-syndrome-type-ii-in-the-heterozygous-state
#13
Sarah Issa, Nadege Bondurand, Emmanuelle Faubert, Sylvain Poisson, Laure Lecerf, Patrick Nitschke, Naima Deggouj, Natalie Loundon, Laurence Jonard, Albert David, Yves Sznajer, Patricia Blanchet, Sandrine Marlin, Veronique Pingault
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB...
February 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/28230075/oxygen-impairs-oligodendroglial-development-via-oxidative-stress-and-reduced-expression-of-hif-1%C3%AE
#14
Christina Brill, Till Scheuer, Christoph Bührer, Stefanie Endesfelder, Thomas Schmitz
The premature increase of oxygen tension may contribute to oligodendroglial precursor cell (OPC) damage in preterm infants. Fetal OPCs are exposed to low oxygen tissue tensions not matched when cells are cultured in room air. Maturation (A2B5, O4, O1, MBP, CNP, arborization), oxidative stress (nitrotyrosine Western blot, NRF2 and SOD2 expression), apoptosis (TUNEL), proliferation (Ki67), and expression of transcription factors regulated by Hypoxia-Inducible-Factor-1-alpha (Hif-1α) expressed in OPCs (Olig1, Olig2, Sox9, Sox10) were assessed in rat OPCs and OLN93 cells cultured at 5% O2 and 21% O2...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216417/expression-profiling-of-clinical-specimens-supports-the-existence-of-neural-progenitor-like-stem-cells-in-basal-breast-cancers
#15
Alex Panaccione, Yan Guo, Wendell G Yarbrough, Sergey V Ivanov
BACKGROUND: We previously characterized in salivary adenoid cystic carcinoma (ACC) a novel population of cancer stem cells (CSCs) marked by coexpression of 2 stemness genes, sex-determining region Y (SRY)-related HMG box-containing factor 10 (SOX10) and CD133. We also reported that in ACC and basal-like breast carcinoma (BBC), a triple-negative breast cancer subtype, expression of SOX10 similarly demarcates a highly conserved gene signature enriched with neural stem cell genes. On the basis of these findings, we hypothesized that BBC might be likewise driven by SOX10-positive (SOX10(+))/CD133(+) cells with neural stem cell properties...
January 27, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/28207737/the-enteric-nervous-system-promotes-intestinal-health-by-constraining-microbiota-composition
#16
Annah S Rolig, Erika K Mittge, Julia Ganz, Josh V Troll, Ellie Melancon, Travis J Wiles, Kristin Alligood, W Zac Stephens, Judith S Eisen, Karen Guillemin
Sustaining a balanced intestinal microbial community is critical for maintaining intestinal health and preventing chronic inflammation. The gut is a highly dynamic environment, subject to periodic waves of peristaltic activity. We hypothesized that this dynamic environment is a prerequisite for a balanced microbial community and that the enteric nervous system (ENS), a chief regulator of physiological processes within the gut, profoundly influences gut microbiota composition. We found that zebrafish lacking an ENS due to a mutation in the Hirschsprung disease gene, sox10, develop microbiota-dependent inflammation that is transmissible between hosts...
February 2017: PLoS Biology
https://www.readbyqxmd.com/read/28186702/direct-conversion-of-human-fibroblasts-into-schwann-cells-that-facilitate-regeneration-of-injured-peripheral-nerve-in-vivo
#17
Yoshihiro Sowa, Tsunao Kishida, Koichi Tomita, Kenta Yamamoto, Toshiaki Numajiri, Osam Mazda
Schwann cells (SCs) play pivotal roles in the maintenance and regeneration of the peripheral nervous system. Although transplantation of SCs enhances repair of experimentally damaged peripheral and central nerve tissues, it is difficult to prepare a sufficient number of functional SCs for transplantation therapy without causing adverse events for the donor. Here, we generated functional SCs by somatic cell reprogramming procedures and demonstrated their capability to promote peripheral nerve regeneration. Normal human fibroblasts were phenotypically converted into SCs by transducing SOX10 and Krox20 genes followed by culturing for 10 days resulting in approximately 43% directly converted Schwann cells (dSCs)...
January 9, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28177135/unveiling-and-initial-characterization-of-neural-crest-like-cells-in-mesenchymal-populations-from-the-human-periodontal-ligament
#18
L Ramírez-García, R Cevallos, K Gazarian
OBJECTIVE: To identify cells with neural crest properties in mesenchymal populations isolated from human periodontal ligament. BACKGROUND: Evidence from tracing experiments on animal embryos revealed proof that dental tissues are among the homing sites of craniofacial neural crest migratory cells. In humans, similar migratory cells were found in early embryos, but whether these cells are progeny of oral multipotent stem cells needs to be confirmed. Searching for the cells with neural crest characteristics in periodontal ligament mesenchymal populations can lead to a solution to the problem...
February 8, 2017: Journal of Periodontal Research
https://www.readbyqxmd.com/read/28169300/two-factor-based-reprogramming-of-rodent-and-human-fibroblasts-into-schwann-cells
#19
Pietro Giuseppe Mazzara, Luca Massimino, Marta Pellegatta, Giulia Ronchi, Alessandra Ricca, Angelo Iannielli, Serena Gea Giannelli, Marco Cursi, Cinzia Cancellieri, Alessandro Sessa, Ubaldo Del Carro, Angelo Quattrini, Stefano Geuna, Angela Gritti, Carla Taveggia, Vania Broccoli
Schwann cells (SCs) generate the myelin wrapping of peripheral nerve axons and are promising candidates for cell therapy. However, to date a renewable source of SCs is lacking. In this study, we show the conversion of skin fibroblasts into induced Schwann cells (iSCs) by driving the expression of two transcription factors, Sox10 and Egr2. iSCs resembled primary SCs in global gene expression profiling and PNS identity. In vitro, iSCs wrapped axons generating compact myelin sheaths with regular nodal structures...
February 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28153506/clinicopathologic-study-of-calcifying-fibrous-tumor-of-the-gastrointestinal-tract-a-case-series
#20
Maryam Kherad Pezhouh, M Katayoon Rezaei, Maryam Shabihkhani, Arunima Ghosh, Deborah Belchis, Elizabeth A Montgomery, Lysandra Voltaggio
Calcifying fibrous tumor (CFT) is a rare benign mesenchymal lesion known to arise at multiple body sites that may clinically mimic other more aggressive lesions in the gastrointestinal (GI) tract. In this study we describe the clinicopathologic findings of 28 GI tract CFTs. Tumors predominantly arose in middle aged adults with a slight female predominance. The most commonly involved sites were small bowel and colon, followed by stomach and appendix. Tumors ranged from 0.3 to 9.3cm (median 1.4cm) and submucosa was the most commonly involved layer...
January 30, 2017: Human Pathology
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