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https://www.readbyqxmd.com/read/28691208/transcriptomic-profile-analysis-of-mouse-neural-tube-development-by-rna-seq
#1
Juan Yu, Jianbing Mu, Qian Guo, Lihong Yang, Juan Zhang, Zhizhen Liu, Baofeng Yu, Ting Zhang, Jun Xie
The neural tube is the primordium of the central nervous system (CNS) in which its development is not entirely clear. Understanding the cellular and molecular basis of neural tube development could, therefore, provide vital clues to the mechanism of neural tube defects (NTDs). Here, we investigated the gene expression profiles of three different time points (embryonic day (E) 8.5, 9.5 and 10.5) of mouse neural tube by using RNA-seq approach. About 391 differentially expressed genes (DEGs) were screened during mouse neural tube development, including 45 DEGs involved in CNS development, among which Bmp2, Ascl1, Olig2, Lhx1, Wnt7b and Eomes might play the important roles...
July 10, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28690533/dysphagia-in-perry-syndrome-pharyngeal-pressure-in-two-cases
#2
George Umemoto, Yoshio Tsuboi, Hirokazu Furuya, Takayasu Mishima, Shinsuke Fujioka, Naoki Fujii, Hajime Arahata, Miwa Sugahara, Mitsuaki Sakai
BACKGROUND: To investigate the impact of dysphagia in Perry syndrome (PS), an autosomal dominant parkinsonism caused by mutation of DCTN1, which is associated with hypoventilation, depression, and weight loss. CASE PRESENTATION: We used tongue pressure measurements and manofluorography to investigate swallowing function in 2 patients with PS. Case 1, a 60-year-old male showing parkinsonism, and case 2, a 49-year-old male admitted with pneumonia, were diagnosed as having PS based on the DCTN1 gene analysis...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28625595/dctn1-related-neurodegeneration-perry-syndrome-and-beyond
#3
REVIEW
Takuya Konno, Owen A Ross, Hélio A G Teive, Jarosław Sławek, Dennis W Dickson, Zbigniew K Wszolek
Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150(Glued). Dynactin is a motor protein involved in axonal transport; the p150(Glued) subunit has a critical role in the overall function. Since the discovery of DCTN1 in PS, it has been increasingly recognized that DCTN1 mutations can exhibit more diverse phenotypes than previously thought...
June 12, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28589942/misfolded-polypeptides-are-selectively-recognized-and-transported-toward-aggresomes-by-a-ced-complex
#4
Joori Park, Yeonkyoung Park, Incheol Ryu, Mi-Hyun Choi, Hyo Jin Lee, Nara Oh, Kyutae Kim, Kyoung Mi Kim, Junho Choe, Cheolju Lee, Ja-Hyun Baik, Yoon Ki Kim
Misfolded polypeptides are rapidly cleared from cells via the ubiquitin-proteasome system (UPS). However, when the UPS is impaired, misfolded polypeptides form small cytoplasmic aggregates, which are sequestered into an aggresome and ultimately degraded by aggrephagy. Despite the relevance of the aggresome to neurodegenerative proteinopathies, the molecular mechanisms underlying aggresome formation remain unclear. Here we show that the CTIF-eEF1A1-DCTN1 (CED) complex functions in the surveillance of either pre-existing or newly synthesized polypeptides by linking two molecular events: selective recognition and aggresomal targeting of misfolded polypeptides...
June 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28568506/pbb3-imaging-in-parkinsonian-disorders-evidence-for-binding-to-tau-and-other-proteins
#5
Alexandra Perez-Soriano, Julieta E Arena, Katie Dinelle, Qing Miao, Jessamyn McKenzie, Nicole Neilson, Andreas Puschmann, Paul Schaffer, Hitoshi Shinotoh, Jenna Smith-Forrester, Elham Shahinfard, Nasim Vafai, Daryl Wile, Zbigniew Wszolek, Makoto Higuchi, Vesna Sossi, A Jon Stoessl
BACKGROUND AND OBJECTIVES: To study selective regional binding for tau pathology in vivo, using PET with [(11) C]PBB3 in PSP patients, and other conditions not typically associated with tauopathy. METHODS: Dynamic PET scans were obtained for 70 minutes after the bolus injection of [(11) C]PBB3 in 5 PSP subjects, 1 subject with DCTN1 mutation and PSP phenotype, 3 asymptomatic SNCA duplication carriers, 1 MSA subject, and 6 healthy controls of similar age. Tissue reference Logan analysis was applied to each region of interest using a cerebellar white matter reference region...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28167572/an-oncogenic-alk-fusion-and-an-rras-mutation-in-kras-mutation-negative-pancreatic-ductal-adenocarcinoma
#6
Yoko Shimada, Takashi Kohno, Hideki Ueno, Yoshinori Ino, Hideyuki Hayashi, Takashi Nakaoku, Yasunari Sakamoto, Shunsuke Kondo, Chigusa Morizane, Kazuaki Shimada, Takuji Okusaka, Nobuyoshi Hiraoka
PURPOSE: Oncogenic mutations in the KRAS gene are a well-known driver event, occurring in >95% of pancreatic cancers. The objective of this study was to identify driver oncogene aberrations in pancreatic cancers without the KRAS mutation. METHODS: Whole-exome and transcriptome sequencing was performed on four cases of KRAS mutation-negative pancreatic ductal adenocarcinoma, which were identified in a cohort of 100 cases. RESULTS: One case harbored an oncogenic DCTN1-ALK fusion...
February 2017: Oncologist
https://www.readbyqxmd.com/read/27874193/alk-oncoproteins-in-atypical-inflammatory-myofibroblastic-tumours-novel-rrbp1-alk-fusions-in-epithelioid-inflammatory-myofibroblastic-sarcoma
#7
REVIEW
Jen-Chieh Lee, Chien-Feng Li, Hsuan-Ying Huang, Mei-Jun Zhu, Adrián Mariño-Enríquez, Chung-Ta Lee, Wen-Bin Ou, Jason L Hornick, Jonathan A Fletcher
ALK oncogenic activation mechanisms were characterized in four conventional spindle-cell inflammatory myofibroblastic tumours (IMT) and five atypical IMT, each of which had ALK genomic perturbations. Constitutively activated ALK oncoproteins were purified by ALK immunoprecipitation and electrophoresis, and were characterized by mass spectrometry. The four conventional IMT had TPM3/4-ALK fusions (two cases) or DCTN1-ALK fusions (two cases), whereas two atypical spindle-cell IMT had TFG-ALK and TPM3-ALK fusion in one case each, and three epithelioid inflammatory myofibroblastic sarcomas had RANBP2-ALK fusions in two cases, and a novel RRBP1-ALK fusion in one case...
February 2017: Journal of Pathology
https://www.readbyqxmd.com/read/27668583/evaluation-of-the-dynactin-1-gene-in-leonbergers-and-labrador-retrievers-with-laryngeal-paralysis
#8
David E Holt, Dorothy C Brown, Paula S Henthorn
OBJECTIVE To sequence exons and splice consensus sites of the dynactin subunit 1 (DCTN1) gene in Leonbergers and Labrador Retrievers with clinical laryngeal paralysis. ANIMALS 5 unrelated Leonbergers with laryngeal paralysis, 2 clinically normal Leonbergers, 7 unrelated Labrador Retrievers with laryngeal paralysis, and 2 clinically normal Labrador Retrievers. PROCEDURES Primers were designed for the entire coding regions of the DCTN1 gene, a noncoding exon at the 5´ end of the gene, and a 900-bp single-nucleotide polymorphism (SNP)-rich region located 17 kb upstream of the DCTN1 gene by use of the CanFam3 assembly of the canine genome sequence...
October 2016: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/27573046/distal-hereditary-motor-neuropathy-type%C3%A2-7b-with-dynactin-1-mutation
#9
Sun Hee Hwang, Eun Ja Kim, Young Bin Hong, Jaesoon Joo, Sung Min Kim, Soo Hyun Nam, Hyun Dae Hong, Seung Hyun Kim, Kiwook Oh, Jeong-Geun Lim, Jeong Hee Cho, Ki Wha Chung, Byung-Ok Choi
Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. However, since the first dHMN7B patient with a DCTN1 mutation was described in 2003, to the best of our knowledge no further cases have been reported. In the present study, the DCTN1 p.G59S mutation was identified in two unrelated families from a total of 24 Korean families with dHMN, by whole exome sequencing...
October 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27346608/cytoplasmic-aggregates-of-dynactin-in-ipsc-derived-tyrosine-hydroxylase-positive-neurons-from-a-patient-with-perry-syndrome
#10
Takayasu Mishima, Taizo Ishikawa, Keiko Imamura, Takayuki Kondo, Yasushi Koshiba, Ryosuke Takahashi, Jun Takahashi, Akihiro Watanabe, Naoki Fujii, Yoshio Tsuboi, Haruhisa Inoue
BACKGROUND: Perry syndrome is a rare autosomal dominant disorder clinically characterized by parkinsonism with depression/apathy, weight loss, and central hypoventilation. Eight mutations in DCTN1 gene have been reported. A novel disease model is required because the detailed pathogenesis remains unclear. METHODS: To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations...
September 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27132499/dctn1-p-k56r-in-progressive-supranuclear-palsy
#11
Emil K Gustavsson, Joanne Trinh, Ilaria Guella, Chelsea Szu-Tu, Jaskaran Khinda, Chin-Hsien Lin, Ruey-Meei Wu, Jon Stoessl, Silke Appel-Cresswell, Martin McKeown, Alex Rajput, Ali H Rajput, Maria Skaalum Petersen, Beom S Jeon, Jan O Aasly, Matthew J Farrer
INTRODUCTION: Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation. METHODS: We sequenced DCTN1 in 636 Caucasian patients with parkinsonism (Parkinson's disease and Parkinson-plus syndromes) and 508 healthy controls. Variants (MAF < 0.01) were subsequently genotyped in Caucasian (1360 cases and 1009 controls) and Asian cohorts (1046 cases and 830 controls), and the functional implications of pathogenic variants were assessed...
July 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27066542/phenotypic-and-molecular-analyses-of-primary-lateral-sclerosis
#12
Hiroshi Mitsumoto, Peter L Nagy, Chris Gennings, Jennifer Murphy, Howard Andrews, Raymond Goetz, Mary Kay Floeter, Jonathan Hupf, Jessica Singleton, Richard J Barohn, Sharon Nations, Christen Shoesmith, Edward Kasarskis, Pam Factor-Litvak
OBJECTIVE: To understand phenotypic and molecular characteristics of patients with clinically "definite" primary lateral sclerosis (PLS) in a prospective study. METHODS: Six sites enrolled 41 patients who had pure upper motor neuron dysfunction, bulbar symptoms, a normal EMG done within 12 months of enrollment, and onset of symptoms ≥5 years before enrollment. For phenotypic analyses, 27 demographic, clinical, and cognitive variables were analyzed using the k-means clustering method...
June 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/27025386/identification-of-genetic-causes-of-inherited-peripheral-neuropathies-by-targeted-gene-panel-sequencing
#13
Soo Hyun Nam, Young Bin Hong, Young Se Hyun, Da Eun Nam, Geon Kwak, Sun Hee Hwang, Byung-Ok Choi, Ki Wha Chung
Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A...
May 31, 2016: Molecules and Cells
https://www.readbyqxmd.com/read/26954557/alteration-of-motor-protein-expression-involved-in-bidirectional-transport-in-peripheral-blood-mononuclear-cells-of-patients-with-amyotrophic-lateral-sclerosis
#14
Magdalena Kuźma-Kozakiewicz, Beata Kaźmierczak, Agnieszka Chudy, Beata Gajewska, Anna Barańczyk-Kuźma
BACKGROUND: Sporadic amyotrophic lateral sclerosis (SALS) is a fatal motor neuron degenerative disease of unclear pathogenesis. Disturbances of intracellular transport are possible causes of the disease. OBJECTIVE: We evaluated the expression of motor proteins involved in the anterograde (kinesins KIF1B, KIF5C) and retrograde (KIFC3, dynactin subunits DCTN1 and DCTN3) intracellular transport in peripheral blood mononuclear cells (PBMCs). MATERIALS AND METHODS: PBMCs were obtained from 74 SALS patients with different clinical phenotypes, 65 blood donors (healthy control I), and 29 cases with other neurological diseases (disease control II) divided into subgroups IIA (atypical parkinsonism) and IIB (ALS-mimicking disorders)...
2016: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/26794519/live-cell-imaging-of-retrograde-transport-initiation-in-primary-neurons
#15
Jeffrey J Nirschl, Erika L F Holzbaur
Axonal transport is an essential function in neurons, as mutations in either motor proteins or their adaptors cause neurodegeneration. While some mutations cause a complete block in axonal transport, other mutations affect transport more subtly. This is especially true of mutations identified in human patients, many of which impair but do not block motor function in the cell. Dissecting the pathogenic mechanisms of these more subtle mutations requires assays that can tease apart the distinct phases of axonal transport, including transport initiation, sustained/regulated motility, and cargo-specific sorting or delivery...
2016: Methods in Cell Biology
https://www.readbyqxmd.com/read/26662454/mutation-analysis-of-genes-within-the-dynactin-complex-in-a-cohort-of-hereditary-peripheral-neuropathies
#16
S Tey, A Ahmad-Annuar, A P Drew, N Shahrizaila, G A Nicholson, M L Kennerson
The cytoplasmic dynein-dynactin genes are attractive candidates for neurodegenerative disorders given their functional role in retrograde transport along neurons. The cytoplasmic dynein heavy chain (DYNC1H1) gene has been implicated in various neurodegenerative disorders, and dynactin 1 (DCTN1) genes have been implicated in a wide spectrum of disorders including motor neuron disease, Parkinson's disease, spinobulbar muscular atrophy and hereditary spastic paraplegia. However, the involvement of other dynactin genes with inherited peripheral neuropathies (IPN) namely, hereditary sensory neuropathy, hereditary motor neuropathy and Charcot-Marie-Tooth disease is under reported...
August 2016: Clinical Genetics
https://www.readbyqxmd.com/read/26330360/whole-genome-and-transcriptome-sequencing-of-matched-primary-and-peritoneal-metastatic-gastric-carcinoma
#17
J Zhang, J Y Huang, Y N Chen, F Yuan, H Zhang, F H Yan, M J Wang, G Wang, M Su, G Lu, Y Huang, H Dai, J Ji, J Zhang, J N Zhang, Y N Jiang, S J Chen, Z G Zhu, Y Y Yu
Gastric cancer is one of the most aggressive cancers and is the second leading cause of cancer death worldwide. Approximately 40% of global gastric cancer cases occur in China, with peritoneal metastasis being the prevalent form of recurrence and metastasis in advanced disease. Currently, there are limited clinical approaches for predicting and treatment of peritoneal metastasis, resulting in a 6-month average survival time. By comprehensive genome analysis will uncover the pathogenesis of peritoneal metastasis...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26062823/stump-un-stumped-anti-tumor-response-to-anaplastic-lymphoma-kinase-alk-inhibitor-based-targeted-therapy-in-uterine-inflammatory-myofibroblastic-tumor-with-myxoid-features-harboring-dctn1-alk-fusion
#18
Vivek Subbiah, Caitlin McMahon, Shreyaskumar Patel, Ralph Zinner, Elvio G Silva, Julia A Elvin, Ishwaria M Subbiah, Chimela Ohaji, Dhakshina Moorthy Ganeshan, Deepa Anand, Charles F Levenback, Jenny Berry, Tim Brennan, Juliann Chmielecki, Zachary R Chalmers, John Mayfield, Vincent A Miller, Philip J Stephens, Jeffrey S Ross, Siraj M Ali
BACKGROUND: Recurrent, metastatic mesenchymal myxoid tumors of the gynecologic tract present a management challenge as there is minimal evidence to guide systemic therapy. Such tumors also present a diagnostic dilemma, as myxoid features are observed in leiomyosarcomas, inflammatory myofibroblastic tumors (IMT), and mesenchymal myxoid tumors. Comprehensive genomic profiling was performed in the course of clinical care on a case of a recurrent, metastatic myxoid uterine malignancy (initially diagnosed as smooth muscle tumor of uncertain malignant potential (STUMP)), to guide identify targeted therapeutic options...
June 11, 2015: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/25957632/whole-exome-sequencing-and-the-clinician-we-need-clinical-skills-and-functional-validation-in-variant-filtering
#19
Daniyal Daud, Helen Griffin, Konstantinos Douroudis, Stephanie Kleinle, Gail Eglon, Angela Pyle, Patrick F Chinnery, Rita Horvath
Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after filtering the hundreds of variants on WES from an individual's DNA selected by the phenotype. We investigated a patient with a slowly progressive chronic axonal distal motor neuropathy and extrapyramidal syndrome using WES, in whom common genetic mutations had been excluded. Variant filtering identified potentially deleterious mutations in three known disease genes: DCTN1, KIF5A and NEFH, which have been all associated with similar clinical presentations of amyotrophic lateral sclerosis, Parkinsonism and/or hereditary spastic paraplegia...
July 2015: Journal of Neurology
https://www.readbyqxmd.com/read/25813404/novel-alk-fusion-partners-in-lung-cancer
#20
Aglaya G Iyevleva, Grigory A Raskin, Vladislav I Tiurin, Anna P Sokolenko, Natalia V Mitiushkina, Svetlana N Aleksakhina, Aigul R Garifullina, Tatiana N Strelkova, Valery O Merkulov, Alexandr O Ivantsov, Ekatherina Sh Kuligina, Kazimir M Pozharisski, Alexandr V Togo, Evgeny N Imyanitov
Detection of ALK rearrangements in patients with non-small cell lung cancer (NSCLC) presents a significant technical challenge due to the existence of multiple translocation partners and break-points. To improve the performance of PCR-based tests, we utilized the combination of 2 assays, i.e. the variant-specific PCR for the 5 most common ALK rearrangements and the test for unbalanced 5'/3'-end ALK expression. Overall, convincing evidence for the presence of ALK translocation was obtained for 34/400 (8.5%) cases, including 14 EML4ex13/ALKex20, 12 EML4ex6/ALKex20, 3 EML4ex18/ALKex20, 2 EML4ex20/ALKex20 variants and 3 tumors with novel translocation partners...
June 28, 2015: Cancer Letters
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