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https://www.readbyqxmd.com/read/29136686/-clinicopathologic-and-molecular-characteristics-of-malignant-gastrointestinal-neuroectodermal-tumors
#1
M Zhao, T W Zhao, J Ma, C Y Wu, L Chen, G Q Ru, X L He
Objective: To investigate the clinicopathologic and molecular characteristics, diagnostic, differential diagnostic and prognostic features of malignant gastrointestinal neuroectodermal tumor. Methods: Two cases of malignant gastrointestinal neuroectodermal tumor were retrieved; the clinical and radiologic features, histomorphology, immunophenotype, molecular genetics and prognosis were analyzed and the relevant literature reviewed. Results: Case 1 was a 57-year-old male, presented with recurrent abdominal pain and melena...
November 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29130118/sox10-positive-cells-emerge-in-the-rat-pituitary-gland-during-late-embryogenesis-and-start-to-express-s100%C3%AE
#2
Hiroki Ueharu, Saishu Yoshida, Naoko Kanno, Kotaro Horiguchi, Naoto Nishimura, Takako Kato, Yukio Kato
In the pituitary gland, S100β-positive cells localize in the neurohypophysis and adenohypophysis but the lineage of the two groups remains obscure. S100β is often observed in many neural crest-derived cell types. Therefore, in this study, we investigate the origin of pituitary S100β-positive cells by immunohistochemistry for SOX10, a potent neural crest cell marker, using S100β-green fluorescence protein-transgenic rats. On embryonic day 21.5, a SOX10-positive cell population, which was also positive for the stem/progenitor cell marker SOX2, emerged in the pituitary stalk and posterior lobe and subsequently expanded to create a rostral-caudal gradient on postnatal day 3 (P3)...
November 13, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/29111096/multinodular-and-vacuolating-neuronal-tumor-of-the-cerebrum-a-rare-entity-new-case-and-review-of-the-literature
#3
Lain Hermes Gonzalez-Quarante, Fernando Ruiz-Juretschke, Emma Sola Vendrell, Oscar Lucas Gil de Sagredo Del Corral, Vijay Agarwal, Roberto Garcia-Leal
BACKGROUND: Multinodular and vacuolating neuronal tumor has been recently described and included in the World Health Organization Classification of Tumors of The Central Nervous System, even though its consideration as a true tumor is controversial. Patients with these lesions usually present with refractory seizures and inconclusive imaging findings that may be confused with other more common diagnoses such as dysembryoplastic neuroepithelial tumors or low-grade gliomas. Therefore, surgical resection is warranted to reach a pathologic diagnosis and seizure control...
October 28, 2017: Neurocirugía
https://www.readbyqxmd.com/read/29101268/disturbed-spermatogenic-signaling-in-pacap-deficient-mice
#4
Dora Reglodi, Sandor Cseh, Bence Somoskoi, Balazs Fulop, Eszter Szentleleky, Vince Szegeczki, Anna Kovacs, Andrea Varga, Peter Kiss, Hitoshi Hashimoto, Andrea Tamas, Attila Bardosi, Sridharan Manavalan, Eva Bako, Roza Zakany, Tamas Juhasz
PACAP is a neuropeptide with diverse functions in various organs, including reproductive system. It is present in the testis in high concentrations, and in addition to the stage-specific expression within the seminiferous tubules, PACAP affects spermatogenesis and the functions of Leydig and Sertoli cells. Mice lacking endogenous PACAP show reduced fertility, but the possibility of abnormalities in spermatogenic signaling has not yet been investigated. Therefore, we performed a detailed morphological analysis of spermatozoa, sperm motility, and investigated signaling pathways that play a role during spermatogenesis in knockout mice...
November 3, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29074959/differentiation-of-oligodendrocyte-precursor-cells-from-sox10-venus-mice-to-oligodendrocytes-and-astrocytes
#5
Nobuharu Suzuki, Kaori Sekimoto, Chikako Hayashi, Yo Mabuchi, Tetsuya Nakamura, Chihiro Akazawa
Oligodendrocytes are well known as myelin-forming cells in the central nervous system (CNS). However, detailed mechanisms of oligodendrocyte differentiation and myelination are poorly understood, particularly due to the difficulty of the purification of murine oligodendrocyte precursor cells (OPCs). We have recently established a transgenic mouse line that expresses a fluorescent protein Venus under the promoter of Sox10, whose expression is restricted to OPCs and oligodendrocytes in the CNS. Here, we have characterized Venus-positive cells from the Sox10-Venus mouse brain for analyzing oligodendrocyte differentiation...
October 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29059311/sox10-expression-as-well-as-braf-and-gnaq-11-mutations-distinguish-pigmented-ciliary-epithelium-neoplasms-from-uveal-melanomas
#6
Taisuke Mori, Aoi Sukeda, Shigeki Sekine, Shinsuke Shibata, Eijitsu Ryo, Hideyuki Okano, Shigenobu Suzuki, Nobuyoshi Hiraoka
Purpose: Adenocarcinomas or adenomas derived from pigmented ciliary epithelium (APCE) are exceptionally rare ocular tumors. These tumors have pigmented and epithelioid features, and some APCEs are negative for keratin markers and positive for melanocytic markers. It is especially difficult to distinguish APCEs from uveal melanoma (UM). Accordingly, we examined protein expression and genetic mutations associated with APCE to facilitate diagnosis. Methods: Five APCE and 11 UM samples were obtained from patients during surgical resection at our institute...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29051083/lysophosphatidic-acid-propagates-post-injury-schwann-cell-dedifferentiation-through-lpa1-signaling
#7
Fabian Szepanowski, Leon-Phillip Szepanowski, Anne K Mausberg, Christoph Kleinschnitz, Bernd C Kieseier, Mark Stettner
Lysophosphatidic acid (LPA) is a pleiotropic signaling lipid that acts as ligand for at least six specific G-protein coupled receptors. Schwann cells (SC) are known to mainly express the LPA1 receptor subtype. An emerging body of evidence has linked LPA with injury-induced peripheral nerve demyelination as well as neuropathic pain. However, the molecular mechanisms underlying its demyelinating effect have not been conclusively elucidated. We aimed to decipher the demyelinating effect in vitro as well as in vivo by studying markers of SC differentiation and dedifferentiation: Myelinated dorsal root ganglia (DRG) cultures were treated either with LPA, LPA plus AM095 (LPA1 antagonist) or vehicle...
October 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29045167/identification-of-a-novel-de-novo-heterozygous-deletion-in-the-sox10-gene-in-waardenburg-syndrome-type-ii-using-next-generation-sequencing
#8
Haonan Li, Peng Jin, Qian Hao, Wei Zhu, Xia Chen, Ping Wang
OBJECTIVES: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cause of WSII in a patient and evaluated the reliability of the targeted next-generation exome sequencing method for the genetic diagnosis of WS. METHODS: Clinical evaluations were conducted on the patient and targeted next-generation sequencing (NGS) was used to identify the candidate genes responsible for WSII...
October 18, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29041930/renal-cell-like-carcinoma-of-the-nasal-cavity-a-case-report-and-review-of-the-literature
#9
Zhenwei-Chen, Zhaoming-Wang, Hongqi-Shi, Qinwei-Liu
BACKGROUND: Sinonasal renal cell-like carcinoma (SRCLC) is an extremely rare low malignant tumor arising in the sinonasal tract, with histological mimicry of renal cell carcinoma. CASE PRESENTATION: We present a case of sinonasal renal cell-like carcinoma in a 63-year-old male patient. Computer tomography(CT) scanning revealed a soft tissue mass at the left nasal cavity and choana. Histologically, the predominant tumor architecture was follicular to glandular with intervening fibrous septa...
October 17, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29035684/sox10-induces-epithelial-mesenchymal-transition-and-contributes-to-nasopharyngeal-carcinoma-progression
#10
Ping He, Xiaojie Jin
OBJECTIVE: The aim of this study was to investigate the role of SOX10 in NPC and the underlying molecular mechanisms. METHODS: Expression of SOX10 was initially assessed in human NPC tissues and a series of NPC cell lines through quantitative real-time PCR (qRT-PCR) and western blot. Then, cell proliferation, cycle, migration and invasion of NPC cells with knockdown of SOX10 were examined by MTT, flow cytometry, transwell migration and invasion assay, respectively...
October 16, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29034508/ulk4-deficiency-leads-to-hypomyelination-in-mice
#11
Min Liu, Ping Xu, Zhenlong Guan, Xiaohong Qian, Peter Dockery, Una Fitzgerald, Timothy O'Brien, Sanbing Shen
Brain nerve fibers are insulated by myelin which is produced by oligodendrocytes. Defects in myelination are increasingly recognized as a common pathology underlying neuropsychiatric and neurodevelopmental disorders, which are associated with deletions of the Unc-51-like kinase 4 (ULK4) gene. Key transcription factors have been identified for oligodendrogenesis, but little is known about their associated regulators. Here we report that Ulk4 acts as a key regulator of myelination. Myelination is reduced by half in the Ulk4(tm1a/tm1a) hypomorph brain, whereas expression of axonal marker genes Tubb3, Nefh, Nefl and Nefm remains unaltered...
October 16, 2017: Glia
https://www.readbyqxmd.com/read/29031500/transcription-and-signaling-regulators-in-developing-neuronal-subtypes-of-mouse-and-human-enteric-nervous-system
#12
Fatima Memic, Viktoria Knoflach, Khomgrit Morarach, Rebecca Sadler, Catia Laranjeira, Jens Hjerling-Leffler, Erik Sundström, Vassilis Pachnis, Ulrika Marklund
BACKGROUND AND AIMS: The enteric nervous system (ENS) regulates gastrointestinal function via different subtypes of neurons, organized into fine-tuned neural circuits. It is not clear how cell diversity is created within the embryonic ENS-information required for development of cell-based therapies and models of enteric neuropathies. We aimed to identify proteins that regulate ENS differentiation and network formation. METHODS: We generated and compared RNA expression profiles of the entire ENS, ENS progenitor cells, and non-ENS gut cells of mice, collected at embryonic days 11...
October 11, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29028795/alx4-relays-sequential-fgf-signaling-to-induce-lacrimal-gland-morphogenesis
#13
Ankur Garg, Mukesh Bansal, Noriko Gotoh, Gen-Sheng Feng, Jian Zhong, Fen Wang, Ariana Kariminejad, Steven Brooks, Xin Zhang
The sequential use of signaling pathways is essential for the guidance of pluripotent progenitors into diverse cell fates. Here, we show that Shp2 exclusively mediates FGF but not PDGF signaling in the neural crest to control lacrimal gland development. In addition to preventing p53-independent apoptosis and promoting the migration of Sox10-expressing neural crests, Shp2 is also required for expression of the homeodomain transcription factor Alx4, which directly controls Fgf10 expression in the periocular mesenchyme that is necessary for lacrimal gland induction...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29023979/sox8-and-sox10-jointly-maintain-myelin-gene-expression-in-oligodendrocytes
#14
Tanja Turnescu, Juliane Arter, Simone Reiprich, Ernst R Tamm, Ari Waisman, Michael Wegner
In Schwann cells of the vertebrate peripheral nervous system, induction of myelination and myelin maintenance both depend on the HMG-domain-containing transcription factor Sox10. In oligodendrocytes of the central nervous system, Sox10 is also essential for the induction of myelination. Its role in late phases of myelination and myelin maintenance has not been studied so far. Here, we show that these processes are largely unaffected in mice that lack Sox10 in mature oligodendrocytes. As Sox10 is co-expressed with the related Sox8, we also analyzed oligodendrocytes and myelination in Sox8-deficient mice...
October 11, 2017: Glia
https://www.readbyqxmd.com/read/29020614/gene-editing-in-rat-embryonic-stem-cells-to-produce-in%C3%A2-vitro-models-and-in%C3%A2-vivo-reporters
#15
Yaoyao Chen, Sonia Spitzer, Sylvia Agathou, Ragnhildur Thora Karadottir, Austin Smith
Rat embryonic stem cells (ESCs) offer the potential for sophisticated genome engineering in this valuable biomedical model species. However, germline transmission has been rare following conventional homologous recombination and clonal selection. Here, we used the CRISPR/Cas9 system to target genomic mutations and insertions. We first evaluated utility for directed mutagenesis and recovered clones with biallelic deletions in Lef1. Mutant cells exhibited reduced sensitivity to glycogen synthase kinase 3 inhibition during self-renewal...
October 10, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29018955/the-effect-of-laminin-1-on-enteric-neural-crest-derived-cell-migration-in-the-hirschsprung-s-disease-mouse-model
#16
Nana Nakazawa-Tanaka, N Fujiwara, K Miyahara, S Nakada, E Arikawa-Hirasawa, C Akazawa, M Urao, A Yamataka
BACKGROUND/AIM: Laminin-1 regulates neurite outgrowth in various neuronal cells. We have previously demonstrated that laminin-1 promotes enteric neural crest-derived cell (ENCC) migration by using Sox10-VENUS transgenic mice, in which ENCCs are labeled with a green fluorescent protein, Venus. Mice lacking the endothelin-B receptor gene, Ednrb (-/-) mice, are widely used as a model for Hirschsprung's disease (HD). The aim of this study was to investigate the effects of laminin-1on ENCC migration in Sox10-VENUS(+)/Ednrb (-/-) mice, a newly created HD mice model...
October 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28983681/altered-expression-of-laminin-alpha1-in-aganglionic-colon-of-endothelin-receptor-b-null-mouse-model-of-hirschsprung-s-disease
#17
Naho Fujiwara, Nana Nakazawa-Tanaka, Katsumi Miyahara, Eri Arikawa-Hirasawa, Chihiro Akazawa, Atsuyuki Yamataka
PURPOSE: Laminin, an extracellular matrix molecule, is essential for normal development of the nervous system. The alpha1 subunit of laminin-1 (LAMA1) has been reported to promote neurites and outgrowth and is expressed only during embryogenesis. Previously, we developed a Sox10 transgenic version of the Endothelin receptor-B (Ednrb) mouse to visualize Enteric neural crest-derived cell (ENCC)s with a green fluorescent protein, Venus. We designed this study to investigate the expression of LAMA1 using Sox10-VENUS mice gut...
October 5, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28972819/schwann-cell-phenotype-changes-in-aging-human-dental-pulp
#18
E Couve, M Lovera, K Suzuki, O Schmachtenberg
Schwann cells are glial cells that support axonal development, maintenance, defense, and regeneration in the peripheral nervous system. There is limited knowledge regarding the organization, plasticity, and aging of Schwann cells within the dental pulp in adult permanent teeth. The present study sought to relate changes in the pattern of Schwann cell phenotypes between young and old adult teeth with neuronal, immune, and vascular components of the dental pulp. Schwann cells are shown to form a prominent glial network at the dentin-pulp interface, consisting of nonmyelinating and myelinating phenotypes, forming a multicellular neuroimmune interface in association with nerve fibers and dendritic cells...
October 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28967641/large-scale-expansion-and-characterization-of-human-adult-neural-crest-derived-multipotent-stem-cells-from-hair-follicle-for-regenerative-medicine-applications
#19
R G Vasyliev, A E Rodnichenko, O S Gubar, A V Zlatska, I M Gordiienko, S N Novikova, D O Zubov
AIM: The purpose of this work was to obtain, multiply and characterize the adult neural crest-derived multipotent stem cells from human hair follicle for their further clinical use. MATERIALS AND METHODS: Adult neural crest-derived multipotent stem cells were obtained from human hair follicle by explant method and were expanded at large-scale up to a clinically significant number. The resulted cell cultures were examined by flow cytometry and immunocytochemical analysis...
September 2017: Experimental Oncology
https://www.readbyqxmd.com/read/28965976/the-presence-of-diminished-white-matter-and-corpus-callosal-thinning-in-a-case-with-a-sox9-mutation
#20
Ayumi Matsumoto, Eri Imagawa, Noriko Miyake, Takahiro Ikeda, Mizuki Kobayashi, Masahide Goto, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia...
September 28, 2017: Brain & Development
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