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https://www.readbyqxmd.com/read/29760072/estrogen-receptor-%C3%AE-controls-proliferation-of-enteric-glia-and-differentiation-of-neurons-in-the-myenteric-plexus-after-damage
#1
F D'Errico, G Goverse, Y Dai, W Wu, M Stakenborg, E Labeeuw, V De Simone, B Verstockt, P J Gomez-Pinilla, M Warner, A Di Leo, G Matteoli, J A Gustafsson
Injury to the enteric nervous system (ENS) can cause several gastrointestinal (GI) disorders including achalasia, irritable bowel syndrome, and gastroparesis. Recently, a subpopulation of enteric glial cells with neuronal stem/progenitor properties (ENSCs) has been identified in the adult ENS. ENSCs have the ability of reconstituting the enteric neuronal pool after damage of the myenteric plexus. Since the estrogen receptor β (ERβ) is expressed in enteric glial cells and neurons, we investigated whether a selective ERβ agonist, LY3201, can influence neuronal and glial cell differentiation...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29759015/morphologic-and-immunohistochemical-characteristics-of-anorectal-melanoma
#2
Ahmad Charifa, Xuchen Zhang
Anorectal melanoma is a rare aggressive disease. Due to its rarity and considerable histologic and immunohistochemical variabilities, misdiagnosis as lymphoma, carcinoma, sarcoma, and/or gastrointestinal stromal tumor is not uncommon, particularly in amelanotic cases. We reviewed histologic features and immunohistochemical stains of 19 anorectal melanoma cases. Histopathologic features were evaluated including junctional activity, melanin pigment, and morphologic features. Immunohistochemical stains were performed using Sox10, S100 protein, HMB-45, melan-A, CD56, and cytokeratins...
May 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29739401/limited-utility-of-tissue-micro-arrays-in-detecting-intra-tumoral-heterogeneity-in-stem-cell-characteristics-and-tumor-progression-markers-in-breast-cancer
#3
Pascale Kündig, Charlotte Giesen, Hartland Jackson, Bernd Bodenmiller, Bärbel Papassotirolopus, Sandra Nicole Freiberger, Catharine Aquino, Lennart Opitz, Zsuzsanna Varga
BACKGROUND: Intra-tumoral heterogeneity has been recently addressed in different types of cancer, including breast cancer. A concept describing the origin of intra-tumoral heterogeneity is the cancer stem-cell hypothesis, proposing the existence of cancer stem cells that can self-renew limitlessly and therefore lead to tumor progression. Clonal evolution in accumulated single cell genomic alterations is a further possible explanation in carcinogenesis. In this study, we addressed the question whether intra-tumoral heterogeneity can be reliably detected in tissue-micro-arrays in breast cancer by comparing expression levels of conventional predictive/prognostic tumor markers, tumor progression markers and stem cell markers between central and peripheral tumor areas...
May 8, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29728441/inhibition-of-ugt8-suppresses-basal-like-breast-cancer-progression-by-attenuating-sulfatide-%C3%AE-v%C3%AE-5-axis
#4
Qianhua Cao, Xingyu Chen, Xuebiao Wu, Ruocen Liao, Panpan Huang, Yanjia Tan, Li Wang, Guoping Ren, Jian Huang, Chenfang Dong
Basal-like breast cancer (BLBC) is associated with a poor clinical outcome as a result of the few treatment options and poor therapeutic response. Here, we report that elevated expression of urine diphosphate-galactose ceramide galactosyltransferase (UGT8) specifically occurs in BLBC and predicts poor prognosis in breast cancer patients. UGT8 expression is transcriptionally up-regulated by Sox10, triggering the sulfatide biosynthetic pathway; increased sulfatide activates integrin αVβ5-mediated signaling that contributes to BLBC progression...
May 4, 2018: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29726667/-kallmann-syndrome-with-deafness-caused-by-sox10-mutation-advances-in-research
#5
REVIEW
Xi Zhou, Wei-Wei Li, Qiu-Yue Wu, Mao-Mao Yu, Xin-Yi Xia
The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29716548/a-genome-wide-assessment-of-conserved-snp-alleles-reveals-a-panel-of-regulatory-snps-relevant-to-the-peripheral-nerve
#6
William D Law, Elizabeth A Fogarty, Aimée Vester, Anthony Antonellis
BACKGROUND: Identifying functional non-coding variation is critical for defining the genetic contributions to human disease. While single-nucleotide polymorphisms (SNPs) within cis-acting transcriptional regulatory elements have been implicated in disease pathogenesis, not all cell types have been assessed and functional validations have been limited. In particular, the cells of the peripheral nervous system have been excluded from genome-wide efforts to link non-coding SNPs to altered gene function...
May 2, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29706463/characterizing-a-novel-vglut3-p2a-icreer-knockin-mouse-strain-in-cochlea
#7
Chao Li, Yilai Shu, Guangqin Wang, He Zhang, Ying Lu, Xiang Li, Gen Li, Lei Song, Zhiyong Liu
Precise mouse genetic studies rely on specific tools that can label specific cell types. In mouse cochlea, previous studies suggest that vesicular glutamate transporter 3 (vGlut3), also known as Slc17a8, is specifically expressed in inner hair cells (IHCs) and loss of vGlut3 causes deafness. To take advantage of its unique expression pattern, here we generate a novel vGlut3-P2A-iCreER knockin mouse strain. The P2A-iCreER cassette is precisely inserted before stop codon of vGlut3, by which the endogenous vGlut3 is intact and paired with iCreER as well...
April 17, 2018: Hearing Research
https://www.readbyqxmd.com/read/29695285/the-polymorphisms-of-lcr-e6-and-e7-of-hpv-58-isolates-in-yunnan-southwest-china
#8
Juemin Xi, Junying Chen, Miaoling Xu, Hongying Yang, Songjiao Wen, Yue Pan, Xiaodan Wang, Chao Ye, Lijuan Qiu, Qiangming Sun
BACKGROUD: Variations in HPV LCR/E6/E7 have been shown to be associated with the viral persistence and cervical cancer development. So far, there are few reports about the polymorphisms of the HPV-58 LCR/E6/E7 sequences in Southwest China. This study aims to characterize the gene polymorphisms of the HPV-58 LCR/E6/E7 sequences in women of Southwest China, and assess the effects of variations on the immune recognition of viral E6 and E7 antigens. METHODS: Twelve LCR/E6/E7 of the HPV-58 isolates were amplified and sequenced...
April 25, 2018: Virology Journal
https://www.readbyqxmd.com/read/29685994/feeder-free-differentiation-of-cells-exhibiting-characteristics-of-corneal-endothelium-from-human-induced-pluripotent-stem-cells
#9
Michael D Wagoner, Laura R Bohrer, Benjamin T Aldrich, Mark A Greiner, Robert F Mullins, Kristan S Worthington, Budd A Tucker, Luke A Wiley
The purpose of this study was to devise a strategy for the derivation of corneal endothelial cells (CEnCs) from adult fibroblast-derived induced pluripotent stem cells (iPSCs). IPSCs were generated from an adult human with normal ocular history via expression of OCT4 , SOX2 , KLF4 and c-MYC Neural crest cells (NCCs) were differentiated from iPSCs via addition of CHIR99021 and SB4315542. NCCs were driven toward a CEnC fate via addition of B27, PDGF-BB and DKK-2 to CEnC media. Differentiation of NCCs and CEnCs was evaluated via rt-PCR, morphological and immunocytochemical analysis...
April 23, 2018: Biology Open
https://www.readbyqxmd.com/read/29681101/a-patient-with-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-severe-hypoganglionosis-associated-with-a-novel-sox10-mutation
#10
Yuko Akutsu, Kentaro Shirai, Akira Takei, Yudai Goto, Tomohiro Aoyama, Akimitu Watanabe, Masatoshi Imamura, Takashi Enokizono, Tatsuyuki Ohto, Tetsuo Hori, Keiko Suzuki, Masaharu Hayashi, Kouji Masumoto, Ken Inoue
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#11
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29673042/regulation-of-neural-crest-development-by-the-formin-family-protein-daam1
#12
Olga Ossipova, Ryan Kerney, Jean-Pierre Saint-Jeannet, Sergei Y Sokol
The neural crest (NC) multipotent progenitor cells form at the neural plate border and migrate to diverse locations in the embryo to differentiate into many cell types. NC is specified by several embryonic pathways, however the role of noncanonical Wnt signaling in this process remains poorly defined. Daam1 is a formin family protein that is present in embryonic ectoderm at the time of NC formation and can mediate noncanonical Wnt signaling. Our interference experiments indicated that Daam1 is required for NC gene activation...
April 19, 2018: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/29653142/characterization-of-a-conjunctival-melanoma-cell-line-cm-as16-newly-established-from-a-metastatic-han-chinese-patient
#13
Yongyun Li, Qingfeng Shang, Peng Li, Jinfeng Cao, Liqi Zhu, Martine J Jager, Xianqun Fan, Shengfang Ge, Renbing Jia
Conjunctival melanoma (CM) is associated with metastases formation, can be fatal, and occurs in all different races. While cell lines are essential for experimental research, all available CM cell lines are derived from Caucasian patients. Furthermore, they are not derived from metastases. We aimed to establish a new CM cell line from a parotid metastasis in a Han Chinese patient and to depict its characteristics. The novel cell line, CM-AS16, was obtained from a surgical parotid sample and determined as a unique one with short tandem repeat (STR) analysis...
April 10, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29651355/cutaneous-adnexal-cylindroma-of-breast-epithelial-immunoreactivities-for-gata-3-mammaglobin-and-e-cadherin-do-not-equate-to-a-mammary-ductal-neoplasm
#14
A Halima, A M Pannunzio, E M Erstine, J S Ko, W F Bergfeld, R M Malaya, M B Frankel, B C Calhoun, C D Sturgis
Cylindromas are benign epithelial neoplasms derived from cutaneous eccrine adnexal structures. These tumors are most commonly encountered on the head, neck, and scalp of older women. In rare instances, solitary cylindromas may arise at other body sites. In the current case, a cylindroma of the skin of the breast was diagnosed by complete excision. Immunohistochemical studies confirmed the tumor cells to be immunoreactive with cytokeratin AE1/3, cytokeratin 5/6, cytokeratin 7, p63, and SOX10. The neoplastic cells were also noted to be immunoreactive with markers typically expected to be positive in ductal epithelium of the breast including GATA3, mammaglobin, and E-cadherin...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29630160/wardenburg-syndrome-type-2-in-a-woman-with-no-genomic-mutation-commonly-associated-with-the-syndrome
#15
Audrey Rutherford, Donald A Glass Ii, Nnenna G Agim
Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes.
February 15, 2018: Dermatology Online Journal
https://www.readbyqxmd.com/read/29626208/publisher-correction-erk-mediated-phosphorylation-regulates-sox10-sumoylation-and-targets-expression-in-mutant-braf-melanoma
#16
Shujun Han, Yibo Ren, Wangxiao He, Huadong Liu, Zhe Zhi, Xinliang Zhu, Tielin Yang, Yu Rong, Bohan Ma, Timothy J Purwin, Zhenlin Ouyang, Caixia Li, Xun Wang, Xueqiang Wang, Huizi Yang, Yan Zheng, Andrew E Aplin, Jiankang Liu, Yongping Shao
In the original version of this Article, financial support was not fully acknowledged. The PDF and HTML versions of the Article have now been corrected to include the following: The National Basic Research Program (2015CB553602 to J.L.), the National Natural Science Foundation of China (31570777, 91649106, 31770917 to J.L.) and Tianjin Applied Basic and Frontier Tech Major Project (12JCZDJC34400 to J.L.) and Tianjin Higher Education Sci-Tech Development Project (20112D05 to J.L.).
April 6, 2018: Nature Communications
https://www.readbyqxmd.com/read/29621239/distinct-interactions-of-sox5-and-sox10-in-fate-specification-of-pigment-cells-in-medaka-and-zebrafish
#17
Yusuke Nagao, Hiroyuki Takada, Motohiro Miyadai, Tomoko Adachi, Ryoko Seki, Yasuhiro Kamei, Ikuyo Hara, Yoshihito Taniguchi, Kiyoshi Naruse, Masahiko Hibi, Robert N Kelsh, Hisashi Hashimoto
Mechanisms generating diverse cell types from multipotent progenitors are fundamental for normal development. Pigment cells are derived from multipotent neural crest cells and their diversity in teleosts provides an excellent model for studying mechanisms controlling fate specification of distinct cell types. Zebrafish have three types of pigment cells (melanocytes, iridophores and xanthophores) while medaka have four (three shared with zebrafish, plus leucophores), raising questions about how conserved mechanisms of fate specification of each pigment cell type are in these fish...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29606615/promoting-myelin-repair-through-in-vivo-neuroblast-reprogramming
#18
Bilal El Waly, Myriam Cayre, Pascale Durbec
Demyelination is frequently observed in a variety of CNS insults and neurodegenerative diseases. In rodents, adult neural stem cells can generate oligodendrocytes and participate to myelin repair. However, these cells mainly produce migratory neuroblasts that differentiate in the olfactory bulb. Here, we show that, in the demyelination context, a small subset of these neuroblasts can spontaneously convert into myelinating oligodendrocytes. Furthermore, we demonstrate that the contribution of neuroblasts to myelin repair can be improved by in vivo forced expression of two transcription factors: OLIG2 and SOX10...
March 27, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29600044/identification-of-the-key-transcription-factors-in-esophageal-squamous-cell-carcinoma
#19
Yuefeng Zhang, Yanzhao Xu, Zhenhua Li, Yonggang Zhu, Shiwang Wen, Mingbo Wang, Huilai Lv, Fan Zhang, Ziqiang Tian
Background: Esophageal cancer (EC) is a common human malignancy worldwide. Esophageal squamous cell carcinoma (ESCC) is the predominant subtype in China. The tumorigenesis mechanism in ESCC is unclear. The aim of this study was to identify key transcription factors (TFs) in ESCC and elucidate the mechanism of it. Methods: A total of ten published microarray datasets of ESCC was downloaded from the Gene Expression Omnibus (GEO). Then, bioinformatics analyses including differentially expressed genes (DEGs) analysis, gene ontology (GO) annotation, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, TFs-genes regulatory network construction was performed...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29596844/molecular-pathology-of-multiple-sclerosis-lesions-reveals-a-heterogeneous-expression-pattern-of-genes-involved-in-oligodendrogliogenesis
#20
T Zeis, O W Howell, R Reynolds, N Schaeren-Wiemers
Little is known about the decisive molecular factors that regulate lesion remyelination in Multiple Sclerosis. To identify such factors, we performed a differential gene expression analysis of normal appearing white matter (NAWM), active, remyelinating, and inactive demyelinated lesions. As expected, many genes involved in inflammatory processes were detected to be differentially regulated between these tissue types. Among them, we found an increased expression of members of the STAT6 pathway such as STAT6, IL4 and IL4R in active, remyelinated and inactive demyelinated lesions...
March 26, 2018: Experimental Neurology
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