keyword
MENU ▼
Read by QxMD icon Read
search

SOX10

keyword
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
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28681995/differences-in-neural-crest-sensitivity-to-ethanol-account-for-the-infrequency-of-anterior-segment-defects-in-the-eye-compared-with-craniofacial-anomalies-in-a-zebrafish-model-of-fetal-alcohol-syndrome
#5
Jessica Eason, Antionette L Williams, Bahaar Chawla, Christian Apsey, Brenda L Bohnsack
BACKGROUND: Ethanol (ETOH) exposure during pregnancy is associated with craniofacial and neurologic abnormalities, but infrequently disrupts the anterior segment of the eye. In these studies, we used zebrafish to investigate differences in the teratogenic effect of ETOH on craniofacial, periocular, and ocular neural crest. METHODS: Zebrafish eye and neural crest development was analyzed by means of live imaging, TUNEL (terminal deoxynucleotidyl transferase dUTP nick end labeling) assay, immunostaining, detection of reactive oxygen species, and in situ hybridization...
July 6, 2017: Birth defects research
https://www.readbyqxmd.com/read/28676351/bidirectional-brain-gut-interactions-and-chronic-pathological-changes-after-traumatic-brain-injury-in-mice
#6
Elise L Ma, Allen D Smith, Neemesh Desai, Lumei Cheung, Marie Hanscom, Bogdan A Stoica, David J Loane, Terez Shea-Donohue, Alan I Faden
OBJECTIVES: Traumatic brain injury (TBI) has complex effects on the gastrointestinal tract that are associated with TBI-related morbidity and mortality. We examined changes in mucosal barrier properties and enteric glial cell response in the gut after experimental TBI in mice, as well as effects of the enteric pathogen Citrobacter rodentium (Cr) on both gut and brain after injury. METHODS: Moderate-level TBI was induced in C57BL/6 mice by controlled cortical impact (CCI)...
July 1, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28649789/beyond-mitf-multiple-transcription-factors-directly-regulate-the-cellular-phenotype-in-melanocytes-and-melanoma
#7
REVIEW
Hannah E Seberg, Eric Van Otterloo, Robert A Cornell
MITF governs multiple steps in the development of melanocytes, including specification from neural crest, growth, survival, and terminal differentiation. In addition, the level of MITF activity determines the phenotype adopted by melanoma cells, whether invasive, proliferative, or differentiated. However, MITF does not act alone. Here we review literature on the transcription factors that co-regulate MITF-dependent genes. ChIP-seq studies have indicated that the transcription factors SOX10, YY1, and TFAP2A co-occupy subsets of regulatory elements bound by MITF in melanocytes...
June 26, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28639938/pilot-study-of-large-scale-production-of-mutant-pigs-by-enu-mutagenesis
#8
Tang Hai, Chunwei Cao, Haitao Shang, Weiwei Guo, Yanshuang Mu, Shulin Yang, Ying Zhang, Qiantao Zheng, Tao Zhang, Xianlong Wang, Yu Liu, Qingran Kong, Kui Li, Dayu Wang, Meng Qi, Qianlong Hong, Rui Zhang, Xiupeng Wang, Qitao Jia, Xiao Wang, Guosong Qin, Yongshun Li, Ailing Luo, Weiwu Jin, Jing Yao, Jiaojiao Huang, Hongyong Zhang, Menghua Li, Xiangmo Xie, Xuejuan Zheng, Kenan Guo, Qinghua Wang, Shibin Zhang, Liang Li, Fei Xie, Yu Zhang, Xiaogang Weng, Zhi Yin, Kui Hu, Yimei Cong, Peng Zheng, Hailong Zou, Leilei Xin, Jihan Xia, Jinxue Ruan, Hegang Li, Weiming Zhao, Jing Yuan, Zizhan Liu, Weiwang Gu, Ming Li, Yong Wang, Hongmei Wang, Shiming Yang, Zhonghua Liu, Hong Wei, Jianguo Zhao, Qi Zhou, Anming Meng
N-ethyl-N-nitrosourea (ENU) mutagenesis is a powerful tool to generate mutants on a large scale efficiently, and to discover genes with novel functions at the whole-genome level in Caenorhabditis elegans, flies, zebrafish and mice, but it has never been tried in large model animals. We describe a successful systematic three-generation ENU mutagenesis screening in pigs with the establishment of the Chinese Swine Mutagenesis Consortium. A total of 6,770 G1 and 6,800 G3 pigs were screened, 36 dominant and 91 recessive novel pig families with various phenotypes were established...
June 22, 2017: ELife
https://www.readbyqxmd.com/read/28620864/adipose-tissue-derived-stromal-cells-adsc-express-oligodendrocyte-and-myelin-markers-but-they-do-not-function-as-oligodendrocytes
#9
Lara Vellosillo, Maria Paz Muñoz, Carlos Luis Paíno
Mesenchymal cells cultured from the vasculo-stromal fraction of adipose tissue (ADSC) show adult stem cell characteristics and several groups have claimed generating neural cells from them. However, we have observed that many markers commonly used for the identification of neural cells are spontaneously expressed by ADSC in culture. In the present study, we have examined the expression of characteristic oligodendrocyte molecules in cultured ADSC, aiming to test if myelinating cells could be generated from accessible non-neural adult tissues...
June 15, 2017: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/28607484/rare-cell-variability-and-drug-induced-reprogramming-as-a-mode-of-cancer-drug-resistance
#10
Sydney M Shaffer, Margaret C Dunagin, Stefan R Torborg, Eduardo A Torre, Benjamin Emert, Clemens Krepler, Marilda Beqiri, Katrin Sproesser, Patricia A Brafford, Min Xiao, Elliott Eggan, Ioannis N Anastopoulos, Cesar A Vargas-Garcia, Abhyudai Singh, Katherine L Nathanson, Meenhard Herlyn, Arjun Raj
Therapies that target signalling molecules that are mutated in cancers can often have substantial short-term effects, but the emergence of resistant cancer cells is a major barrier to full cures. Resistance can result from secondary mutations, but in other cases there is no clear genetic cause, raising the possibility of non-genetic rare cell variability. Here we show that human melanoma cells can display profound transcriptional variability at the single-cell level that predicts which cells will ultimately resist drug treatment...
June 15, 2017: Nature
https://www.readbyqxmd.com/read/28605832/comparison-of-reprogramming-methods-for-generation-of-induced-oligodendrocyte-precursor-cells
#11
Eun-Hye Lee, Chang-Hwan Park
Direct conversion by trans-differentiation is of growing interest in cell therapy for incurable diseases. The efficiency of cell reprogramming and functionality of converted cells are important considerations in cell transplantation therapy. Here, we compared two representative protocols for the generation of induced-oligodendrocyte progenitor cells (iOPCs) from mouse and rat fibroblasts. Then, we showed that induction of Nkx6.2, Olig2, and Sox10 (NOS) was more effective in mouse fibroblasts and that induction of Olig2, Sox10, and Zfp536 (OSZ) was more effective at reprogramming iOPCs from rat fibroblasts...
July 1, 2017: Biomolecules & Therapeutics
https://www.readbyqxmd.com/read/28605142/aberrant-expression-of-fli-1-in-melanoma
#12
Nisha Ramani, Phyu P Aung, Wen-Jen Hwu, Priyadharsini Nagarajan, Michael T Tetzlaff, Jonathan L Curry, Doina Ivan, Victor G Prieto, Carlos A Torres-Cabala
FLI-1 (Friend leukemia integration site 1) nuclear transcription factor has been proposed as a suitable tool in the differential diagnosis of small round cell sarcomas. It has also been described as nuclear marker of endothelial differentiation. Expression of FLI-1 has been demonstrated in Ewing's sarcoma/ primitive neuroectodermal tumor (ES/PNET) and vascular neoplasms. In the present study, we describe two cases of metastatic melanoma with small round blue cell morphology that showed strong nuclear expression of FLI-1...
June 12, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28601899/sensory-innervation-of-the-anal-canal-and-anorectal-line-in-hirschsprung-s-disease-histological-evidence-from-mouse-models
#13
Masahiro Takeda, Katsumi Miyahara, Chihiro Akazawa, Geoffrey J Lane, Atsuyuki Yamataka
AIM: We used non-Hirschsprung's disease (HD) Sox10-Venus Transgenic mice (non-HDSV-mice), an endothelin receptor-B knockout mouse model of HD (HD-mice), and C57B6C3 wild controls (C-mice) to identify the correlation between the anorectal line (ARL) and successful transanal pull-through (TAPT). METHODS: In non-HDSV-mice, intestinal neural crest-derived cells can be visualized with Venus,-a green fluorescent protein-without histochemical staining. We exposed the anal canal in each non-HDSV-mouse and marked the ARL directly with red ink...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28601552/deletion-of-p2-promoter-of-gjb1-gene-a-cause-of-charcot-marie-tooth-disease
#14
R Kulshrestha, S Burton-Jones, T Antoniadi, M Rogers, Z Jaunmuktane, S Brandner, N Kiely, R Manuel, T Willis
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28570006/primary-conjunctival-myxoma-case-series-and-review-of-the-literature
#15
Dolores Ríos Y Valles-Valles, Ivette Hernández-Ayuso, Héctor A Rodríguez-Martínez, Armando Medina-Cruz, Guillermo Salcedo-Casillas, Abelardo A Rodríguez-Reyes
AIMS: Myxomas are benign soft tissue tumors resembling primitive mesenchyme. They rarely involve ocular structures and have been recognized in conjunctiva, eyelids, cornea and orbit. The purpose of this study is to describe the clinicopathological features of 7 patients with primary conjunctival myxoma seen at Dr. Luis Sánchez Bulnes Hospital an ophthalmologic referral center in Mexico City. MATERIALS AND METHODS: We reviewed the clinical, histochemical and immunohistochemical studies of patients with documented myxoma of the conjunctiva diagnosed in our hospital...
June 1, 2017: Histopathology
https://www.readbyqxmd.com/read/28556023/index-report-of-cutaneous-angiosarcomas-with-strong-positivity-for-tyrosinase-mimicking-melanoma-with-further-evaluation-of-melanocytic-markers-in-a-large-angiosarcoma-series
#16
Alicia Leon-Castillo, John S A Chrisinger, Gauri Panse, Rashmi T Samdani, Davis R Ingram, Vinod Ravi, Victor G Prieto, Wei-Lien Wang, Alexander J Lazar
Cutaneous angiosarcoma can be challenging to diagnose particularly when they are poorly vasoformative and on biopsies. We report a case of a cutaneous angiosarcoma with strong positivity for tyrosinase, the first to our knowledge, initially misdiagnosed as melanoma. We subsequently evaluated the reactivity of panmelanocytic cocktail (tyrosinase, HMB-45 and melan-A), SOX10, tyrosinase and MITF in a large tissue microarray (TMA) of angiosarcoma. The TMA included 142 cases of angiosarcomas (29 cutaneous, 22 primary breast, 41 post-radiation breast, 15 visceral, 26 deep soft tissue and bone, 5 chronic lymphedema-associated and 4 angiosarcomas arising in other sarcomas)...
May 27, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28551330/histopathologic-evaluation-of-atypical-neurofibromatous-tumors-and-their-transformation-into-malignant-peripheral-nerve-sheath-tumor-in-neurofibromatosis-1-patients-a-consensus-overview
#17
Markku M Miettinen, Cristina R Antonescu, Christopher D M Fletcher, Aerang Kim, Alexander J Lazar, Martha M Quezado, Karlyne M Reilly, Anat Stemmer-Rachamimov, Douglas R Stewart, David Viskochil, Brigitte Widemann, Arie Perry
Neurofibromatosis 1 (NF1) patients develop multiple neurofibromas, with 8-15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime. Prediction of transformation, typically from plexiform neurofibroma, is clinically and histologically challenging. In this overview, following a consensus meeting in October 2016, we outline the histopathologic features and molecular mechanisms involved in the malignant trans-formation of neurofibromas. Nuclear atypia alone is generally insignificant...
May 24, 2017: Human Pathology
https://www.readbyqxmd.com/read/28549040/nordiqc-assessments-of-sox10-immunoassays
#18
Rasmus Røge, Søren Nielsen, Michael Bzorek, Mogens Vyberg
This paper is number 1 in a series developed through a partnership between ISIMM and NordiQC for the purpose of reporting research assessing the performance characteristics of immunoassays in an external proficiency testing program.
July 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28548128/genomic-profiling-of-breast-secretory-carcinomas-reveals-distinct-genetics-from-other-breast-cancers-and-similarity-to-mammary-analog-secretory-carcinomas
#19
Gregor Krings, Nancy M Joseph, Gregory R Bean, David Solomon, Courtney Onodera, Eric Talevich, Iwei Yeh, James P Grenert, Elizabeth Hosfield, Emily D Crawford, Richard C Jordan, Annemieke van Zante, Charles Zaloudek, Sandra J Shin, Yunn-Yi Chen
Secretory carcinomas of the breast are rare tumors with distinct histologic features, recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion and indolent clinical behavior. Mammary analog secretory carcinomas arising in other sites are histopathologically similar to the breast tumors and also harbor ETV6-NTRK3 fusions. Breast secretory carcinomas are often triple (estrogen and progesterone receptor, HER2) negative with a basal-like immunophenotype. However, genomic studies are lacking, and whether these tumors share genetic features with other basal and/or triple negative breast cancers is unknown...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28544110/waardenburg-syndrome-a-rare-cause-of-inherited-neuropathy-due-to-sox10-mutation
#20
Petya Bogdanova-Mihaylova, Michael D Alexander, Raymond Pj Murphy, Sinéad M Murphy
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in WS. SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy and Hirschsprung disease. Here we report a 32 year-old man with a novel heterozygous missense variant in SOX10 gene, who presented with congenital deafness, Hirschsprung disease, iris heterochromia, foot deformity and intermediate conduction velocity length-dependent sensorimotor neuropathy...
May 22, 2017: Journal of the Peripheral Nervous System: JPNS
keyword
keyword
18396
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"