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Nathan T Harvey, Nathan J Acott, Benjamin A Wood
No abstract text is available yet for this article.
October 18, 2016: American Journal of Dermatopathology
Karen Oprych, Daniel Cotfas, David Choi
The in situ immunocytochemical properties of olfactory ensheathing cells (OECs) have been well studied in several small to medium sized animal models including rats, mice, guinea pigs, cats and canines. However, we know very little about the antigenic characteristics of OECs in situ within the adult and developing human olfactory bulb and nerve roots. To address this gap in knowledge we undertook an immunocytochemical analysis of the 11-19 pcw human foetal olfactory system. Human foetal OECs in situ possessed important differences compared to rodents in the expression of key surface markers...
October 7, 2016: Brain Structure & Function
Sumantra Chatterjee, Ashish Kapoor, Jennifer A Akiyama, Dallas R Auer, Dongwon Lee, Stacey Gabriel, Courtney Berrios, Len A Pennacchio, Aravinda Chakravarti
Common sequence variants in cis-regulatory elements (CREs) are suspected etiological causes of complex disorders. We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold. We now show that two other functionally independent CRE variants, one binding Gata2 and the other binding Rarb, also reduce Ret expression and increase risk 2- and 1.7-fold. By studying human and mouse fetal gut tissues and cell lines, we demonstrate that reduced RET expression propagates throughout its gene regulatory network, exerting effects on both its positive and negative feedback components...
October 6, 2016: Cell
Aleksandra J Ochal-Choińska, Ewa Osuch-Wójcikiewicz
Salivary gland tumours are a group of lesions whose heterogeneity of biological and pathological features is widely reflected in the molecular aspect. This is demonstrated by an increasing number of studies in the field of genetics of these tumours. The aim of this study was to collect the most significant scientific reports on the cytogenetic and molecular data concerning these tumours, which might facilitate the identification of potential biomarkers and therapeutic targets. The analysis covered 71 papers included in the PubMed database...
2016: Contemporary Oncology Współczesna Onkologia
Ryoko Tsukahara, Hiroshi Ueda
Lysophosphatidic acid (LPA) initiates demyelination following peripheral nerve injury, which causes neuropathic pain. Our previous in vivo and ex vivo studies using mice have demonstrated that LPA-induced demyelination of spinal dorsal roots is attributed by the LPA1-type receptor-mediated down-regulation of myelin-related molecules, such as MBP and MPZ. In this study using S16 mature-type Schwann cells, we found that LPA-induced down-regulation of myelin-related genes is attributed by the activation of LPA1 receptor, Rho kinase, and p300, leading to an acetylation of NFκB, which down-regulates the transcription of Sox10, MBP and MPZ genes...
September 12, 2016: Journal of Pharmacological Sciences
Naho Fujiwara, Katsumi Miyahara, Nana Nakazawa-Tanaka, Chihiro Akazawa, Atsuyuki Yamataka
PURPOSE: Hirschsprung's disease (HD) is caused by a failure of enteric neural crest-derived cells (ENCC) to colonize the bowel, resulting in an absence of the enteric nervous system (ENS). Previously, we developed a Sox10 transgenic version of the Endothelin receptor-B (Ednrb) mouse to visualize ENCC with the green fluorescent protein, Venus. The aim of this study was to isolate Sox10-Venus(+) cells, which are differentiated neurons and glial cells in the ENS, and analyze these cells using Sox10-Venus mice gut...
September 23, 2016: Pediatric Surgery International
T Gambichler, A-L Petig, E Stockfleth, M Stücker
BACKGROUND: In malignant melanoma (MM), the proteins SOX10, ABCB5 and CD271 are strongly expressed, and are associated with tumour-initiating potential and stem cell-like properties. AIM: To compare SOX10, ABCB5 and CD271 expression profiles in melanocytic naevi and MM at different stages, and to correlate these with survival data. METHODS: Immunohistochemistry was performed for SOX10, ABCB5 and CD271 expression in common naevi (n = 14), dysplastic naevi (n = 11), primary MM (n = 39), lymph node metastases (n = 14) and distant metastases (n = 14)...
October 2016: Clinical and Experimental Dermatology
Luigi Maione, Sylvie Brailly-Tabard, Jérôme Nevoux, Jérôme Bouligand, Jacques Young
No abstract text is available yet for this article.
September 12, 2016: Clinical Endocrinology
Sarah Schneider, Agnès Gruart, Sofia Grade, Yina Zhang, Stephan Kröger, Frank Kirchhoff, Gregor Eichele, José M Delgado García, Leda Dimou
NG2-glia in the adult brain are known to proliferate and differentiate into mature and myelinating oligodendrocytes throughout lifetime. However, the role of these newly generated oligodendrocytes in the adult brain still remains little understood. Here we took advantage of the Sox10-iCreER(T2) x CAG-eGFP x Esco2(fl/fl) mouse line in which we can specifically ablate proliferating NG2-glia in adult animals. Surprisingly, we observed that the generation of new oligodendrocytes in the adult brain was severely affected, although the number of NG2-glia remained stable due to the enhanced proliferation of non-recombined cells...
September 12, 2016: Glia
Tomofumi Otake, Asato Kuroiwa
The sex-determining gene SRY induces SOX9 expression in the testes of eutherian mammals via two pathways. SRY binds to testis-specific enhancer of Sox9 (TESCO) with SF1 to activate SOX9 transcription. SRY also up-regulates ER71 expression, and ER71 activates Sox9 transcription. After the initiation of testis differentiation, SOX9 enhances Amh expression by binding to its promoter with SF1. SOX8, SOX9 and SOX10, members of the SOXE gene family, also enhance the activities of the Amh promoter and TESCO. In this study, we investigated the regulation of these sexual differentiation genes in Tokudaia osimensis, which lacks a Y chromosome and the SRY gene...
2016: Scientific Reports
Martin H M Sailer, Durga Sarvepalli, Catherine Brégère, Urs Fisch, Marin Guentchev, Michael Weller, Raphael Guzman, Bernhard Bettler, Arkasubhra Ghosh, Gregor Hutter
Epithelial to mesenchymal transition (EMT) describes the process of epithelium transdifferentiating into mesenchyme. EMT is a fundamental process during embryonic development that also commonly occurs in glioblastoma, the most frequent malignant brain tumor. EMT has also been observed in multiple carcinomas outside the brain including breast cancer, lung cancer, colon cancer, gastric cancer. EMT is centrally linked to malignancy by promoting migration, invasion and metastasis formation. The mechanisms of EMT induction are not fully understood...
2016: Journal of Visualized Experiments: JoVE
Kyohei Fujita, Ryuhei Ogawa, Kazuo Ito
Neural crest-derived stem cells (NCSCs) are tissue-specific stem cells derived from multipotent neural crest cells. NCSCs are present in some adult tissues such as dorsal root ganglia, sciatic nerve, and bone marrow. However, little is known about the formation mechanisms of these cells. We have shown that BMP2/Wnt3a signaling and a chromatin remodeler, CHD7, in mice help to maintain the multipotency of neural crest cells and lead to the formation of NCSCs. In the present study, we analyzed a regulatory gene cascade in the formation of mouse NCSCs...
August 31, 2016: FEBS Journal
Charlotte R Taylor, William A Montagne, Judith S Eisen, Julia Ganz
BACKGROUND: To understand the basis of nervous system development, we must learn how multipotent progenitors generate diverse neuronal and glial lineages. We addressed this issue in the zebrafish enteric nervous system (ENS), a complex neuronal and glial network that regulates essential intestinal functions. Little is currently known about how ENS progenitor subpopulations generate enteric neuronal and glial diversity. RESULTS: We identified temporally and spatially dependent progenitor subpopulations based on coexpression of three genes essential for normal ENS development: phox2bb, sox10, and ret...
November 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
Matthias Weider, Michael Wegner
Sox8, Sox9 and Sox10 represent the three vertebrate members of the SoxE subclass of high-mobility-group domain containing Sox transcription factors. They play important roles in the peripheral and central nervous systems as regulators of stemness, specification, survival, lineage progression, glial differentiation and homeostasis. Functions are frequently overlapping, but sometimes antagonistic. SoxE proteins dynamically interact with transcriptional regulators, chromatin changing complexes and components of the transcriptional machinery...
August 20, 2016: Seminars in Cell & Developmental Biology
Michael J Bax, Timothy M Johnson, Paul W Harms, Jennifer L Schwartz, Lili Zhao, Douglas R Fullen, May P Chan
Importance: It is unclear why some patients with in situ melanoma develop metastases. Few reports demonstrate occult invasion with immunohistochemistry staining, which were discordant with reports interpreting such staining as false-positive. Objective: To investigate the occurrence of occult invasive disease within in situ melanoma by using methods to circumvent potential limitations in prior study designs. Design, Setting, and Participants: Unequivocal in situ melanoma without associated nevi or regression was identified using a consecutive sample of 33 cases plus 1 index case in an academic medical center...
August 10, 2016: JAMA Dermatology
Katharina N Muth, Sandra Piefke, Matthias Weider, Elisabeth Sock, Irm Hermans-Borgmeyer, Michael Wegner, Melanie Küspert
Differentiation of oligodendrocytes and myelin production in the vertebrate central nervous system require highly concerted changes in gene expression. The transcription factors Sox10 and Myrf are both central to this process and jointly regulate expression of myelin genes. Here we show that Sox10 and Myrf also cooperate in the activation of the gene coding for the dual specificity protein phosphatase Dusp15 (also known as VHY) during this process. Activation is mediated by the Dusp15 promoter, which is also sufficient to drive oligodendroglial gene expression in vivo...
August 17, 2016: Glia
Sarah N Ramsook, Joyce Ni, Shokofeh Shahangian, Ana Vakiloroayaei, Naveen Khan, Jamie J Kwan, Logan W Donaldson
Group E members of the SOX transcription factor family include SOX8, SOX9, and SOX10. Preceding the high mobility group (HMG) domain in each of these proteins is a thirty-eight amino acid region that supports the formation of dimers on promoters containing tandemly inverted sites. The purpose of this study was to obtain new structural insights into how the dimerization region functions with the HMG domain. From a mutagenic scan of the dimerization region, the most essential amino acids of the dimerization region were clustered on the hydrophobic face of a single, predicted amphipathic helix...
2016: PloS One
Katharina Fleck, Georg Erhardt, Gesine Lühken
Leucism is characterized by a complete or partial white skin and hair in combination with pigmented irides, which can be vivid blue or heterochromatic. This is due to a complete or partial lack of melanocytes. The underlying pathogenesis is a disturbed emigration or differentiation of neural crest-derived cells. Therefore, leucistic phenotypes can be associated with defects, which mainly impair sensory organs and nerves. In humans, a well-known example is the Waardenburg syndrome. Leucism-associated disorders were also described in mouse, rat, hamster, rabbit, mink, cat, dog, pig, sheep, llama, alpaca, cattle and horse...
July 2016: Berliner und Münchener Tierärztliche Wochenschrift
Wenbin Zhu, Lanmei Wang, Zaijie Dong, Xingting Chen, Feibiao Song, Nian Liu, Hui Yang, Jianjun Fu
Red tilapia is becoming more popular for aquaculture production in China in recent years. However, the pigmentation differentiation in genetic breeding is the main problem limiting its development of commercial red tilapia culture and the genetic basis of skin color variation is still unknown. In this study, we conducted Illumina sequencing of transcriptome on three color variety red tilapia. A total of 224,895,758 reads were generated, resulting in 160,762 assembled contigs that were used as reference contigs...
2016: Scientific Reports
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