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H J Huang, X Y Chen, Z Y Zheng
Objective: To investigate the clinicopathological features, differential diagnosis, and genetic alteration of Langerhans cell sarcoma (LCS). Methods: Four cases of LCS were collected from Fujian Provincial Hospital and Fuzhou General Hospital of Nanjing Military Command of PLA from July 2013 to January 2017. Clinicopathological features and immunophenotype were retrospectively reviewed in four LCS cases combined with genetic mutation analysis of BRAF and ALK. Results: Four cases included 2 women and 2 men with ages from 42 to 79 years (median=59...
March 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Bahareh Nazari, Masoud Soleimani, Somayeh Ebrahimi Barough, Seyed Ehsan Enderami, Mansure Kazemi, Babak Negahdari, Esmaeil Sadroddiny, Jafar Ai
Oligodendrocytes play critical roles in the central nervous system (CNS) thorough producing myelin sheaths around axons. There are a variety of approaches to produce oligodendrocytes in vitro and in vivo which are a subject of interest in many studies. A new approach to induce this differentiation is using microRNA 219 (miR-219). However, this new approach suffers from a lack of studies regarding the effect of miR-219 on differentiating human induced pluripotent stem cells (hiPSCs) to oligodendrocytes. This study aimed to assess the impact of miR-219-overexpression on hiPSCs...
March 9, 2018: Journal of Chemical Neuroanatomy
Mansour Alkobtawi, Heather Ray, Elias H Barriga, Mauricio Moreno, Ryan Kerney, Anne-Helene Monsoro-Burq, Jean-Pierre Saint-Jeannet, Roberto Mayor
The neural crest is a multipotent population of cells that originates a variety of cell types. Many animal models are used to study neural crest induction, migration and differentiation, with amphibians and birds being the most widely used systems. A major technological advance to study neural crest development in mouse, chick and zebrafish has been the generation of transgenic animals in which neural crest specific enhancers/promoters drive the expression of either fluorescent proteins for use as lineage tracers, or modified genes for use in functional studies...
March 6, 2018: Developmental Biology
François Cossais, Sebastian Leuschner, Martina Barrenschee, Christina Lange, Michael Ebsen, Ilka Vogel, Martina Böttner, Thilo Wedel
BACKGROUND: Diverticular disease (DD) is a common gastrointestinal inflammatory disorder associated with an enteric neuropathy. Although enteric glial cells (EGCs) are essential regulators of intestinal inflammation and motility functions, their contribution to the pathophysiology of DD remains unclear. Therefore, we analyzed the expression of specific EGC markers in patients with DD. MATERIALS AND METHODS: Expression of the glial markers S100β, GFAP, Sox10, and Connexin 43 was analyzed by real-time quantitative PCR in colonic specimens of patients with DD and in that of controls...
March 6, 2018: Journal of Clinical Gastroenterology
Matthias Weider, Laura Julia Starost, Katharina Groll, Melanie Küspert, Elisabeth Sock, Miriam Wedel, Franziska Fröb, Christian Schmitt, Tina Baroti, Anna C Hartwig, Simone Hillgärtner, Sandra Piefke, Tanja Fadler, Marc Ehrlich, Corinna Ehlert, Martin Stehling, Stefanie Albrecht, Ammar Jabali, Hans R Schöler, Jürgen Winkler, Tanja Kuhlmann, Michael Wegner
Oligodendrocytes produce myelin for rapid transmission and saltatory conduction of action potentials in the vertebrate central nervous system. Activation of the myelination program requires several transcription factors including Sox10, Olig2, and Nkx2.2. Functional interactions among them are poorly understood and important components of the regulatory network are still unknown. Here, we identify Nfat proteins as Sox10 targets and regulators of oligodendroglial differentiation in rodents and humans. Overall levels and nuclear fraction increase during differentiation...
March 2, 2018: Nature Communications
Hsin-Pin Lin, Idil Oksuz, John Svaren, Rajeshwar Awatramani
Recent studies have elucidated the crucial role for microRNAs in peripheral nerve myelination by ablating components of the microRNA synthesis machinery. Few studies have focused on the role of individual microRNAs. To fill this gap, we focused this study on miR-138, which was shown to be drastically reduced in Dicer1 and Dgcr8 knockout mice with hypomyelinating phenotypes and to potentially target the negative regulators of Schwann cell differentiation. Here, we show that of two miR-138 encoding loci, mir-138-1 is the predominant locus transcribed in Schwann cells...
February 28, 2018: Scientific Reports
Hiroki Ueharu, Saishu Yoshida, Naoko Kanno, Kotaro Horiguchi, Naoto Nishimura, Takako Kato, Yukio Kato
The published online version contains mistake in Table 1, Table 2, and some data in Materials and Methods.
February 26, 2018: Cell and Tissue Research
Robyn D Gartrell, Douglas K Marks, Thomas D Hart, Gen Li, Danielle R Davari, Alan Wu, Zoe Blake, Yan Lu, Kayleigh N Askin, Anthea Monod, Camden L Esancy, Edward C Stack, Dan Tong Jia, Paul M Armenta, Yichun Fu, Daisuke Izaki, Bret Taback, Raul Rabadan, Howard L Kaufman, Charles G Drake, Basil A Horst, Yvonne M Saenger
Novel methods to analyze the tumor microenvironment (TME) are urgently needed to stratify melanoma patients for adjuvant immunotherapy. Tumor infiltrating lymphocyte (TIL) analysis, by conventional pathologic methods, is predictive but is insufficiently precise for clinical application. Quantitative multiplex immunofluorescence (qmIF), allows for evaluation of the TME using multiparameter phenotyping, tissue segmentation, and quantitative spatial analysis (qSA). Given that CD3+CD8+ cytotoxic lymphocytes (CTLs) promote antitumor immunity, whereas CD68+ macrophages impair immunity, we hypothesized that quantification and spatial analysis of macrophages and CTLs would correlate with clinical outcome...
February 21, 2018: Cancer Immunology Research
Yirong Xu, Huifang Zhang, Baolong Pan, Shuhui Zhang, Shan Wang, Qiao Niu
Aluminum (Al) is an environmental neurotoxicant with a wide exposure, but the molecular mechanism underlying its toxicity remains unclear. We used RNA sequencing (RNA-seq) in the hippocampus of Al-treated rats to identify 96 upregulated and 652 downregulated mRNAs, and 37 dysregulated long non-coding (lnc)RNAs. Gene ontology analysis showed that dysregulated genes were involved in glial cell differentiation, neural transmission, and vesicle trafficking. Kyoto Encyclopedia of Genes and Genomes pathway analysis revealed clustering of differentially expressed mRNAs and lncRNA target genes in several pathways, including the "adenosine monophosphate-activated protein kinase signaling pathway," "extracellular matrix receptor interaction," "the phosphatidylinositol 3 kinase-protein kinase B signaling pathway," and "focal adhesion" signaling pathway...
February 19, 2018: Neurotoxicity Research
Pan Gu, Zhiqiang Pan, Xiao-Min Wang, Liting Sun, Lydia Wai Tai, Chi Wai Cheung
A strong link between histone deacetylases (HDACs) and nociceptive hypersensitivity has been indicated in different pain models. However, the underlying molecular and cellular mechanisms remain elusive. Here, we discovered that partial sciatic nerve ligation-induced mechanical allodynia and thermal hyperalgesia in mice were associated with increased mRNA and protein expressions of HDAC5 (a member of class IIa HDACs) and SRY-related HMG-box 10 (SOX10) in the ipsilateral lumbar dorsal horn. Gene knockdown of spinal HDAC5 or SOX10 attenuated partial sciatic nerve ligation-induced nociceptive hypersensitivity, companied with decrease of spinal neuronal sensitization markers, namely phosphorylated-Erk, phosphorylated-GluN1 (ser896), and c-Fos...
March 2018: Pain
Manabu Takamatsu, Yukiko Sato, Mariko Muto, Hiroko Nagano, Hironori Ninomiya, Rie Sakakibara, Satoko Baba, Seiji Sakata, Kengo Takeuchi, Sakae Okumura, Yuichi Ishikawa
Hyalinizing clear cell carcinoma of the bronchial glands is a very rare tumor. Since only five reports describing six tumors have been published to date, only a little is known about specific histologic findings and clinical features. Because of its rarity, hyalinizing clear cell carcinoma has not been described in the latest WHO classification of pulmonary tumors yet. Here we present three cases of bronchial hyalinizing clear cell carcinomas, confirmed by both fluorescence in situ hybridization (FISH) and RT-PCR, focusing on histologic and immunohistochemical characteristics in a comparison with three cases of salivary gland origin...
February 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Yuan Zhang, Subo Cai, Scheffer C G Tseng, Ying-Ting Zhu
To expand multi-potent progenitors from human trabecular meshwork (TM), we have created a new optimized method on two-dimensional (2D) followed by three-dimensional (3D) Matrigel in modified embryonic stem cell medium supplemented with 5% fetal bovine serum (MESCM + 5% FBS). The expanded TM cells were small cuboidal cells expressing TM markers such as AQP1, MGP, CHI3L1, and AnkG, embryonic stem cell (ESC) markers such as Oct4, Sox2, Nanog, and ABCG2, and neural crest (NC) markers such as p75NTR, FOXD3, Sox9, Sox10, and MSX1...
February 12, 2018: Scientific Reports
M Zhao, Y B Wang, Y J Yan, W Wang, G Q Ru, X L He
Objective: To investigate the clinicopathologic characteristics, immunophenotype, differential and diagnostic features of atypical spindle cell lipomatous tumor (ASLT). Methods: Three cases of ASLT were collected from January 2010 to March 2017 at Zhejiang Provincial People's Hospital. The clinical and imaging features, histomorphology, immunophenotype and prognosis were analyzed. Fluorescence in situ hybridization (FISH) was used to detect MDM2 gene amplification, and relevant literature was reviewed. Results: All three patients were adult males, aged 38, 43 and 54 years, respectively...
February 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Lei Zheng, Yousheng Yan, Xue Chen, Chuan Zhang, Qinghua Zhang, Xuan Feng, Shen Hao
OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Euphemia W Mu, Nicola A Quatrano, Sarah E Yagerman, Desiree Ratner, Shane A Meehan
BACKGROUND: Melanocytic immunostains can assist in margin evaluation of melanoma in situ (MIS) excisions; however, their accuracy and reliability relative to hematoxylin & eosin (H&E) is yet to be determined. OBJECTIVE: The objective of this study was to evaluate the sensitivity, specificity, and concordance of 4 melanocyte-specific immunostains for diagnosing MIS occurring on chronically sun-damaged skin. MATERIALS AND METHODS: Serial permanent sections from representative areas of negative margin and residual tumor were stained using H&E, MITF, MART-1, SOX10, and R21 and examined in a blinded fashion...
February 6, 2018: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
Philip Eliades, Brian J Abraham, Zhenyu Ji, David M Miller, Camilla L Christensen, Nicholas Kwiatkowski, Raj Kumar, Ching Ni Njauw, Michael Taylor, Benchun Miao, Tinghu Zhang, Kwok-Kin Wong, Nathanael S Gray, Richard A Young, Hensin Tsao
Cutaneous melanoma is an aggressive tumor which accounts for most of the skin cancer deaths. Among the physiological barriers against therapeutic success is a strong survival program driven by genes that specify melanocyte identity such as MITF - a phenomenon known in melanoma biology as "lineage dependency." MITF overexpression is occasionally explained by gene amplification, but here we demonstrate that "super-enhancers" are also important determinants of MITF overexpression in some melanoma cell lines and tumors...
February 2, 2018: Journal of Investigative Dermatology
Magnolia Astrid Pretell Bocángel, Uirá Souto Melo, Leandro Ucela Alves, Eliete Pardono, Naila Cristina Vilaça Lourenço, Humberto Vicente Cezar Marcolino, Paulo Alberto Otto, Regina Célia Mingroni-Netto
This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 being affected by the type 2 (WS2) variant (five familial and 20 isolated cases). Sequential Sanger sequencing of all coding exons of PAX3, MITF, EDN3, EDNRB, SOX10 and SNAI2 genes, followed by CNV detection by MLPA of PAX3, MITF and SOX10 genes in selected cases revealed many novel pathogenic variants...
January 30, 2018: European Journal of Medical Genetics
Fan Yang, Xiao Feng, Arndt Rolfs, Jiankai Luo
Niemann-Pick Type C (NPC) disease is a rare neurovisceral disorder caused by mutations of either NPC1 or NPC2 gene and characterized by defective intracellular transport of cholesterol and glycosphingolipids, leading to neuron loss and myelin aberration in the central nervous system. In this study, by comparing protein expression in the cortical white matter tracts from mice at different postnatal days, we identified that in the NPC1 mutant (NPC1-/-) mice, the onset of myelination is delayed and the amount of the major myelin protein MBP and PLP, and oligodendrocyte regulatory factor Olig1 and Olig2, but not NG2 and Sox10, decreased significantly, suggesting a disruption of oligodendrocyte differentiation...
March 15, 2018: Journal of the Neurological Sciences
Todd M Stevens, Morad Qarmali, Diana Morlote, Fady M Mikhail, Jeffrey Swensen, Zoran Gatalica, Gene P Siegal, Robert M Conry
We present a case of a malignant Ewing-like neoplasm of the parotid gland in a 20-year-old woman with an EWSR1-KLF15 gene fusion that presented with pulmonary metastasis. Despite the fact that the tumor was essentially immunohistochemically negative for keratins, p63, and p40, we interpret this neoplasm as an unusual form of a high-grade myoepithelial carcinoma based on its focal plasmacytoid cytology, chondromyxoid matrix, SOX10, S100 protein, and calponin expression, and the knowledge that the EWSR1-KLF15 gene fusion has, to date, only been identified in 2 tumors, both myoepithelial carcinomas of the kidney...
January 1, 2018: International Journal of Surgical Pathology
Jeffrey K Mito, James R Conner, Jason L Hornick, Edmund S Cibas, Xiaohua Qian
BACKGROUND: The characterization of poorly differentiated neoplasms in fine-needle aspiration (FNA) and small biopsy specimens usually requires immunohistochemistry (IHC) with a panel of markers. Because of an increasing need to preserve limited diagnostic material for tumor genotyping and a mounting demand for cost containment, the authors investigated the usefulness of dual-color IHC with antibodies directed against broad-spectrum keratins and SOX10, a neuroectodermal transcription factor consistently expressed in melanoma, in the workup of epithelioid malignant neoplasms...
January 31, 2018: Cancer Cytopathology
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