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https://www.readbyqxmd.com/read/28893539/functional-analysis-of-a-sox10-gene-mutation-associated-with-waardenburg-syndrome-ii
#1
Xue-Ping Wang, Zi-Qi Hao, Ya-Lan Liu, Ling-Yun Mei, Chu-Feng He, Zhi-Jie Niu, Jie Sun, Yu-Lin Zhao, Yong Feng
Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms. Recently, we identified a SOX10 missense mutation c.422T > C (p.L141P) associated with WS2. We performed functional assays and found the mutant loses DNA-binding capacity, shows aberrant cytoplasmic and nuclear localization, and fails to interact with PAX3...
September 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28879079/intrathoracic-ganglioneuroma-presenting-as-an-endobronchial-mass
#2
Brandon T Nokes, Coralie P Baumann, Kristopher W Cummings, Brandon T Larsen, Rodrigo Cartin-Ceba, Karen L Swanson
Peripheral nerve sheath tumors (PNST) are exceedingly rare, especially outside of the posterior mediastinum. These tumors represent less than 1% of pulmonary tumors. Very few pulmonary PNSTs are ganglioneuromas. We present a case of a ganglioneuroma presenting as an endobronchial mass. CASE PRESENTATION: An 80 year old male was seen in pulmonary clinic for routine cancer screening. He had a 60-pack year smoking history. CT evaluation noted a 1cm right lower lobe endobronchial lesion. This lesion was present since 2012 and had slightly increased in size since that time from 8mm (Figure 1)...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28855355/mitf-high-and-mitf-low-cells-and-a-novel-subpopulation-expressing-genes-of-both-cell-states-contribute-to-intra-and-inter-tumoral-heterogeneity-of-primary-melanoma
#3
Marie Ennen, Celine Keime, Giovanni Gambi, Alice Kieny, Sebastien Coassolo, Christelle Thibault-Carpentier, Fanny Margerin-Schaller, Guillaume Davidson, Constance Vagne, Dan Lipsker, Irwin Davidson
PURPOSE: Understanding tumour heterogeneity is an important challenge in current cancer research. Transcription and epigenetic profiling of cultured melanoma cells have defined at least two distinct cell phenotypes characterised by distinctive gene expression signatures associated with high or low/absent expression of Microphthalmia-associated transcription factor (MITF). Nevertheless, heterogeneity of cell populations and gene expression in primary human tumours is much less well characterised...
August 28, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28852847/distinct-molecular-profile-of-diffuse-cerebellar-gliomas
#4
Masashi Nomura, Akitake Mukasa, Genta Nagae, Shogo Yamamoto, Kenji Tatsuno, Hiroki Ueda, Shiro Fukuda, Takayoshi Umeda, Tomonari Suzuki, Ryohei Otani, Keiichi Kobayashi, Takashi Maruyama, Shota Tanaka, Shunsaku Takayanagi, Takahide Nejo, Satoshi Takahashi, Koichi Ichimura, Taishi Nakamura, Yoshihiro Muragaki, Yoshitaka Narita, Motoo Nagane, Keisuke Ueki, Ryo Nishikawa, Junji Shibahara, Hiroyuki Aburatani, Nobuhito Saito
Recent studies have demonstrated that tumor-driving alterations are often different among gliomas that originated from different brain regions and have underscored the importance of analyzing molecular characteristics of gliomas stratified by brain region. Therefore, to elucidate molecular characteristics of diffuse cerebellar gliomas (DCGs), 27 adult, mostly glioblastoma cases were analyzed. Comprehensive analysis using whole-exome sequencing, RNA sequencing, and Infinium methylation array (n = 17) demonstrated their distinct molecular profile compared to gliomas in other brain regions...
August 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28843711/utility-of-sox10-labeling-in-metastatic-breast-carcinomas
#5
Emily R Nelson, Rajni Sharma, Pedram Argani, Ashley Cimino-Mathews
Sox10 labeling by immunohistochemistry has been primarily reported in tumors of neural crest origin, such as nerve sheath tumors and melanoma. However, Sox10 also labels primary breast carcinomas, particularly those with the basal-like, triple negative phenotype. However, the utility of Sox10 labeling in metastatic breast carcinomas has not been reported. Here, we prospectively evaluated Sox10 labeling in surgically resected metastatic breast carcinomas from 26 patients sampled on tissue microarrays. In this cohort, Sox10 labeling was seen in 3 (12%) metastatic breast carcinomas, all of which were grade III, triple negative ductal carcinomas metastatic to the brain (n=2) or lung (n=1)...
August 23, 2017: Human Pathology
https://www.readbyqxmd.com/read/28832322/a-chemical-screen-in-zebrafish-embryonic-cells-establishes-that-akt-activation-is-required-for-neural-crest-development
#6
Christie Ciarlo, Charles K Kaufman, Beste Kinikoglu, Jonathan Michael, Song Yang, Christopher D Amato, Sasja Blokzijl-Franke, Jeroen den Hertog, Thorsten M Schlaeger, Yi Zhou, Eric Liao, Leonard I Zon
The neural crest is a dynamic progenitor cell population that arises at the border of neural and non-neural ectoderm. The inductive roles of FGF, Wnt, and BMP at the neural plate border are well established, but the signals required for subsequent neural crest development remain poorly characterized. Here, we conducted a screen in primary zebrafish embryo cultures for chemicals that disrupt neural crest development, as read out by crestin:EGFP expression. We found that the natural product caffeic acid phenethyl ester (CAPE) disrupts neural crest gene expression, migration, and melanocytic differentiation by reducing Sox10 activity...
August 23, 2017: ELife
https://www.readbyqxmd.com/read/28829423/multi-photon-time-lapse-imaging-to-visualize-development-in-real-time-visualization-of-migrating-neural-crest-cells-in-zebrafish-embryos
#7
Antionette L Williams, Brenda L Bohnsack
Congenital eye and craniofacial anomalies reflect disruptions in the neural crest, a transient population of migratory stem cells that give rise to numerous cell types throughout the body. Understanding the biology of the neural crest has been limited, reflecting a lack of genetically tractable models that can be studied in vivo and in real-time. Zebrafish is a particularly important developmental model for studying migratory cell populations, such as the neural crest. To examine neural crest migration into the developing eye, a combination of the advanced optical techniques of laser scanning microscopy with long wavelength multi-photon fluorescence excitation was implemented to capture high-resolution, three-dimensional, real-time videos of the developing eye in transgenic zebrafish embryos, namely Tg(sox10:EGFP) and Tg(foxd3:GFP), as sox10 and foxd3 have been shown in numerous animal models to regulate early neural crest differentiation and likely represent markers for neural crest cells...
August 9, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28815340/intradural-lumbosacral-malignant-extrarenal-rhabdoid-tumor-a-case-report
#8
Richard Justin Garling, Rasanjeet Singh, Carolyn Harris, Abilash Haridas
BACKGROUND: Rhabdoid tumors are highly malignant tumors predominantly affecting the pediatric population. When these tumors occur outside of the kidneys, they are referred to as malignant extrarenal rhabdoid tumors (MERT), a rare highly aggressive subtype. Less commonly, these tumors involve the neuro-axis. OBJECTIVE: Here we present a case of a 15-year-old girl with intradural MERT of the lumbosacral spine who presented with back pain, sudden worsening of lower extremity strength, and complete loss of bowel and bladder control...
August 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28809055/apoptotic-effect-of-astragalin-in-melanoma-skin-cancers-via-activation-of-caspases-and-inhibition-of-sry-related-hmg-box-gene-10
#9
Ok Heui You, Eun Ah Shin, Hyemin Lee, Ju-Ha Kim, Deok Yong Sim, Jung Hyo Kim, Younghwan Kim, Jae-Ho Khil, Nam-In Baek, Sung-Hoon Kim
Though Astragalin (kaempferol-3-glucoside) contained in Paeonia lactiflora and other plants was known to have anti-oxidant, antiinflammatory, and anti-tumor activity, the anti-tumor mechanism of Astragalin has never been reported in melanomas until now. Thus, in the present study, the underlying apoptotic mechanism of Astragalin isolated from Aceriphyllum rossii was elucidated in A375P and SK-MEL-2 melanoma cells. Astragalin exerted cytotoxicity in A375P and SK-MEL-2 cells in a concentration-dependent manner...
August 15, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/28781197/clinicopathologic-and-molecular-characterization-of-mammary-analogue-secretory-carcinoma-of-salivary-gland-origin
#10
F Baghai, F Yazdani, A Etebarian, A Garajei, A Skalova
BACKGROUND: Mammary analogue secretory carcinoma (MASC) is a newly recognized salivary gland tumor that harbors a characteristic balanced chromosomal translocation t (12; 15) (p13; q25) resulting in an ETV6-NTRK3 fusion gene. METHODS: Retrospective study of 111 salivary gland carcinomas revealed 37 cases with secretory features and growth patterns resembling secretory carcinoma of breast. These 37 cases were originally diagnosed as acinic cell carcinoma, adenocarcinoma not otherwise specified and cystadenocarcinoma...
July 23, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28777840/-study-of-gene-mutation-and-pathogenetic-mechanism-for-a-family-with-waardenburg-syndrome
#11
Hongsheng Chen, Xinbin Liao, Yalan Liu, Chufeng He, Hua Zhang, Lu Jiang, Yong Feng, Lingyun Mei
OBJECTIVE: To explore the pathogenetic mechanism of a family affected with Waardenburg syndrome. METHODS: Clinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Plasmids for wild type (WT) and mutant MITF proteins were constructed to determine their exogenous expression and subcellular distribution by Western blotting and immunofluorescence assay, respectively. RESULTS: A heterozygous c...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771716/microrna-212-inhibits-oligodendrocytes-during-maturation-by-down-regulation-of-differentiation-associated-gene-expression
#12
Chih-Yen Wang, Benjamin Deneen, Shun-Fen Tzeng
MicroRNA-212 (mir-212) has been reported to regulate neuronal development and functioning. However, its expression and function in glia are not yet known. Here, we demonstrate that the level of microRNA-212 (mir-212) was reduced in spinal cord lesion site at 1 week and 1 month after a contusive spinal cord injury. In addition to its expression in neurons, mir-212 expression was detected in oligodendrocytes (OLGs) and glial progenitor cells (GPCs) in adult CNS. The addition of antagomir-212 to reduce mir-212 expression enabled to improve the cell process outgrowth of OLGs along with the up-regulation of the genes associated with OLG differentiation and maturation, including OLIG1, SOX10, myelin basic protein (MBP), and proteolipid protein 1 (PLP1)...
August 3, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28756976/oncocytic-papillary-cystadenoma-with-prominent-mucinous-differentiation-of-parotid-gland-a-case-report
#13
Borislav A Alexiev, Lawrence J Jennings, Sandeep Samant, Sambasiva Rao
We describe the case of an oncocytic papillary cystadenoma with mucinous differentiation of the parotid gland in a 64-year-old male. Histologically, the tumor exhibited distinctive areas of intracystic papillary growth pattern with microcystic and macrocystic spaces containing mucinous secretions and small crystals. The cyst wall and papillary fronds were lined by oncocytic admixed with numerous mucocytes. Lymphoid tissue and invasive features were not identified. The tumor showed strong expression of CK7 and mammaglobin in oncocytes, and BRST-2 and MUC4 in mucocytes...
July 8, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28752676/fine-needle-aspiration-findings-of-a-rare-hematopoietic-neoplasm-presenting-as-obstructive-jaundice
#14
Jessica Tracht, Ali M Ahmed, Frida Rosenblum Donath
A 51-year-old female who presented with obstructive jaundice was found to have masses in the pancreatic head and tail as well as suspicious liver and periaortic masses on imaging. Aspiration cytology of the pancreatic tail mass showed abundant large single cells with vacuolated eosinophilic cytoplasm, marked nuclear pleomorphism, large bizarre irregular nuclei, binucleation, and prominent nucleoli. Numerous cells also showed intracytoplasmic black to brown pigmentation. A cell block was obtained and extensive immunohistochemical staining was performed...
July 27, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28751716/static-magnetic-field-stimulation-enhances-oligodendrocyte-differentiation-and-secretion-of-neurotrophic-factors
#15
Ankshita Prasad, Daniel B Loong Teh, Agata Blasiak, Chou Chai, Yang Wu, Payam M Gharibani, In Hong Yang, Thang T Phan, Kah Leong Lim, Hyunsoo Yang, Xiaogang Liu, Angelo H All
The cellular-level effects of low/high frequency oscillating magnetic field on excitable cells such as neurons are well established. In contrast, the effects of a homogeneous, static magnetic field (SMF) on Central Nervous System (CNS) glial cells are less investigated. Here, we have developed an in vitro SMF stimulation set-up to investigate the genomic effects of SMF exposure on oligodendrocyte differentiation and neurotrophic factors secretion. Human oligodendrocytes precursor cells (OPCs) were stimulated with moderate intensity SMF (0...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28751573/sox10-cells-contribute-to-vascular-development-in-multiple-organs-brief-report
#16
Dong Wang, Fan Wu, Haoyong Yuan, Aijun Wang, Gyeong Jin Kang, Tan Truong, Lu Chen, Andrew S McCallion, Xiaohua Gong, Song Li
OBJECTIVE: Previous genetic lineage tracing studies showed that Sox10(+) cells differentiate into vascular mural cells, limited to neural crest-derived blood vessels in craniofacial tissues, aortic arch, pulmonary arch arteries, brachiocephalic, carotid arteries, and thymus. The purpose of this study was to investigate the contribution of Sox10(+) cells to the vascular development in other tissues and organs and their relationship with neural crest. APPROACH AND RESULTS: Using genetic lineage tracing technique based on Cre/LoxP system, we examined blood vessels in the adult organs of the mice expressing Sox10-Cre/Rosa-LoxP-red fluorescent protein or Wnt1-Cre/Rosa-LoxP-red fluorescent protein by immunohistological analysis...
September 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28719468/etv6-gene-rearrangements-characterize-a-morphologically-distinct-subset-of-sinonasal-low-grade-non-intestinal-type-adenocarcinoma-a-novel-translocation-associated-carcinoma-restricted-to-the-sinonasal-tract
#17
Simon Andreasen, Alena Skálová, Abbas Agaimy, Justin A Bishop, Jan Laco, Ilmo Leivo, Alessandro Franchi, Stine R Larsen, Daiva Erentaite, Benedicte P Ulhøi, Christian von Buchwald, Linea C Melchior, Michal Michal, Katalin Kiss
Low-grade sinonasal adenocarcinomas (low-grade SNACs) of the sinonasal tract comprise a poorly characterized and histologically heterogeneous group of tumors. We describe three cases of a histologically distinct variant of low-grade SNAC characterized by ETV6 gene rearrangements. The patients included 2 women (aged 32 and 88 y) and a man (aged 75 y); all were initially treated with surgery alone. Follow-up ranged from 9 to 170 months with one patient having 2 local recurrences and none experiencing distant or regional metastases...
July 17, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28700376/eruptive-multifocal-cutaneous-mucinous-cysts
#18
Deshan F Sebaratnam, Nita Agar, Wendy Cooper, Louise Jackett
Cutaneous cysts lined by mucinous epithelium are rare entities. We report an unusual case of a 60-year-old female patient who presented with a 2-month history of eruptive cystic papules on her right thigh. Histopathologic study showed multiple, multiloculated cysts located in the dermis lined by nonciliated mucinous epithelium. The cyst lining was positive for AE1/AE3, CK7, CK20, and GCDFP15. Patchy positivity was noted on the p53 stain. Attenuated Sox10 positive cells were identified, raising the possibility of sweat duct origin; however, no myoepithelial layer was identified by p63 staining...
July 4, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28695960/galectin-1-enhances-the-generation-of-neural-crest-cells
#19
Tsutomu Motohashi, Masahiro Nishioka, Daisuke Kitagawa, Norito Kawamura, Natsuki Watanabe, Takanori Wakaoka, Toshihiko Kadoya, Takahiro Kunisada
Neural crest (NC) cells are multipotent cells that emerge from the dorsal region of the neural tube. After delaminating from the neural tube, NC cells migrate throughout the developing embryo and differentiate into various cells: neurons and glial cells of the peripheral nervous system, melanocytes of skin, and skeletal elements of the face and head. We previously analyzed the gene expression profile of a NC subpopulation isolated from Sox10-IRES-Venus mice and found that the carbohydrate-binding protein, Galectin-1 (Gal-1) was strongly expressed in generating NC cells...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28690485/a-novel-pathogenic-variant-in-the-mitf-gene-segregating-with-a-unique-spectrum-of-ocular-findings-in-an-extended-iranian-waardenburg-syndrome-kindred
#20
Nazanin Jalilian, Mohammad A Tabatabaiefar, Tayyeb Bahrami, Golaleh Karbasi, Mohammad H Bahramian, Abdolrahman Salimpoor, Mohammad R Noori-Daloii
Waardenburg syndrome (WS) is a rare genetic disorder characterized by abnormal pigmentation of the hair, skin, and iris as well as sensorineural hearing loss. WS is subdivided into 4 major types (WS1-4), where WS2 is characterized by the absence of dystopia canthorum. This study was launched to investigate clinical and molecular characteristics of WS in an extended Iranian WS2 family. A comprehensive clinical investigation was performed. Peripheral blood samples were collected and genomic DNA was extracted...
June 2017: Molecular Syndromology
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