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https://www.readbyqxmd.com/read/29300972/a-recurrent-de-novo-missense-mutation-in-ubtf-causes-developmental-neuroregression
#1
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Fauni Harper, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Thomas Moss, Alexis L Franks, Chris Balak, Mark S LeDoux
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10:g.42290219C>T, NM_014233.3:c.628G>A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was at 2.5 to 3 yrs and characterized by slow progression of global motor, cognitive and behavioral dysfunction...
January 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29221119/analysis-of-npm1-splice-variants-reveals-differential-expression-patterns-of-prognostic-value-in-acute-myeloid-leukemia
#2
Malgorzata Zajac, Anna Dolnik, Grazyna Stasiak, Joanna Zaleska, Michal Kielbus, Jakub Czapinski, Matthias Schunn, Stephany C Correa, Eliza Glodkowska-Mrowka, Reddy Chakkarappan Sundaram, Olga Jankowska-Lecka, Richard F Schlenk, Hartmut Döhner, Konstanze Döhner, Andrzej Stepulak, Lars Bullinger, Krzysztof Giannopoulos
Mutations of the nucleophosmin-1 (NPM1) gene in cytogenetically normal (CN) acute myeloid leukemia (AML) identify a group of patients with more favorable prognosis. NPM1 encodes three main alternatively spliced isoforms R1(B23.1), R2(B23.2), and R3(B23.3). The expression of splice variants R1, R2 and R3 were higher in AML patients compared to normal cells of healthy volunteers (HVs), although RNA-seq analysis revealed enhanced R2 expression also in less differentiated cells of HVs as well as in AML cells. The variant R2, which lacks exons 11 and 12 coding for the nucleolar localization domain, might behave similar to the mutant form of NPM1 (NPM1mut)...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29172398/the-evaluation-of-cellular-immune-function-in-elderly-patients-with-systemic-lupus-erythematosus
#3
Kun Men, Yu Chen, Jingwei Zhang, Dianjun Wei
Background/Aims: To evaluate cellular immune function in systemic lupus erythematosus (SLE) patients over 60 years old, the association between antinuclear antibody (ANA) titers and the ratio of CD4+ /CD8+ was analyzed in this study. The distribution of ANAs and extractable nuclear antibodies (ENAs) in a healthy elderly population was also investigated. Methods: Serum ANA titers were assayed by indirect immunofluorescence (IIF) and the CD4+ /CD8+ T-cell ratio was determined by flow cytometry in 76 SLE patients and 30 healthy control individuals...
November 29, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29169375/synaptic-configuration-of-quadrivalents-and-their-association-with-the-xy-bivalent-in-spermatocytes-of-robertsonian-heterozygotes-of-mus-domesticus
#4
Soledad Berríos, Raúl Fernández-Donoso, Eliana Ayarza
BACKGROUND: The nuclear architecture of meiotic prophase spermatocytes is based on higher-order patterns of spatial associations among chromosomal domains and consequently is prone to modification by chromosomal rearrangements. We have shown that nuclear architecture is modified in spermatocytes of Robertsonian (Rb) homozygotes of Mus domesticus. In this study we analyse the synaptic configuration of the quadrivalents formed in the meiotic prophase of spermatocytes of mice double heterozygotes for the dependent Rb chromosomes: Rbs 11...
November 23, 2017: Biological Research
https://www.readbyqxmd.com/read/29127023/interobserver-variation-among-pathologists-and-refinement-of-criteria-in-distinguishing-separate-primary-tumours-from-intrapulmonary-metastases-in-lung
#5
Andrew G Nicholson, Kathleen Torkko, Patrizia Viola, Edwina Duhig, Kim Geisinger, Alain C Borczuk, Kenzo Hiroshima, Ming S Tsao, Arne Warth, Sylvie Lantuejoul, Prudence A Russell, Erik Thunnissen, Alberto Marchevsky, Mari Mino-Kenudson, Mary Beth Beasley, Johan Botling, Sanja Dacic, Yasushi Yatabe, Masayuki Noguchi, William D Travis, Keith Kerr, Fred R Hirsch, Lucian R Chirieac, Ignacio I Wistuba, Andre Moreira, Jin-Haeng Chung, Teh Ying Chou, Lukas Bubendorf, Gang Chen, Giuseppe Pelosi, Claudia Poleri, Frank C Detterbeck, Wilbur A Franklin
Multiple tumor nodules (MTNs) are seen with increasing frequency in clinical practice. Based on the 2015 WHO classification of lung tumors, we assessed the reproducibility of the comprehensive histologic assessment (CHA) to distinguish second primary lung cancers (SPLC) from intrapulmonary metastases (IPM), looking for the most distinctive histological features. An international panel of lung pathologists reviewed a scanned sequential cohort of 126 tumors from 48 patients, recorded an agreed set of histologic features, including tumor typing and predominant pattern of adenocarcinoma, thereby opining whether the case was SPLC, IPM or a combination...
November 7, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29031033/an-arabidopsis-divergent-pumilio-protein-apum24-is-essential-for-embryogenesis-and-required-for-faithful-pre-rrna-processing
#6
Thiruvenkadam Shanmugam, Nazia Abbasi, Hyung-Sae Kim, Ho Bang Kim, Nam-Il Park, Guen Tae Park, Sung Aeong Oh, Soon Ki Park, Douglas G Muench, Yeonhee Choi, Youn-Il Park, Sang-Bong Choi
Pumilio RNA-binding proteins are largely involved in mRNA degradation and translation repression. However, a few evolutionarily divergent Pumilios are also responsible for proper pre-rRNA processing in human and yeast. Here, we describe an essential Arabidopsis nucleolar Pumilio, APUM24, that is expressed in tissues undergoing rapid proliferation and cell division. A T-DNA insertion for APUM24 did not affect the male and female gametogenesis, but instead resulted in a negative female gametophytic effect on zygotic cell division immediately after fertilization...
October 14, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28900032/nucleolar-and-spindle-associated-protein-1-nusap1-interacts-with-a-sumo-e3-ligase-complex-during-chromosome-segregation
#7
Christine A Mills, Aussie Suzuki, Anthony Arceci, Jin Yao Mo, Alex Duncan, Edward D Salmon, Michael J Emanuele
The mitotic spindle is composed of dynamic microtubules and associated proteins that together direct chromosome movement during mitosis. The spindle plays a vital role in accurate chromosome segregation fidelity and is a therapeutic target in cancer. Nevertheless, the molecular mechanisms by which many spindle-associated proteins function remains unknown. The nucleolar and spindle-associated protein NUSAP1 is a microtubule-binding protein implicated in spindle stability and chromosome segregation. We show here that NUSAP1 localizes to dynamic spindle microtubules in a unique chromosome-centric pattern, in the vicinity of overlapping microtubules, during metaphase and anaphase of mitosis...
October 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28817650/snorna-and-pirna-expression-levels-modified-by-tobacco-use-in-women-with-lung-adenocarcinoma
#8
Natasha Andressa Nogueira Jorge, Gabriel Wajnberg, Carlos Gil Ferreira, Benilton de Sa Carvalho, Fabio Passetti
Lung cancer is one of the most frequent types of cancer worldwide. Most patients are diagnosed at advanced stage and thus have poor prognosis. Smoking is a risk factor for lung cancer, however most smokers do not develop lung cancer while 20% of women with lung adenocarcinoma are non-smokers. Therefore, it is possible that these two groups present differences besides the smoking status, including differences in their gene expression signature. The altered expression patterns of non-coding RNAs in complex diseases make them potential biomarkers for diagnosis and treatment...
2017: PloS One
https://www.readbyqxmd.com/read/28807021/serological-and-morphological-prognostic-factors-in-patients-with-interstitial-pneumonia-with-autoimmune-features
#9
Yuhei Ito, Machiko Arita, Shogo Kumagai, Reoto Takei, Maki Noyama, Fumiaki Tokioka, Keisuke Nishimura, Takashi Koyama, Kenji Notohara, Tadashi Ishida
BACKGROUND: To identify the prognostic factors for survival in patients with interstitial pneumonia with autoimmune features (IPAF) who meet the serological domain of the IPAF criteria. METHODS: We retrospectively analysed 99 IPAF patients who met the serological domain and were hospitalised at the Respiratory Medicine Unit of Kurashiki Central Hospital from 1999 to 2015. The high-resolution computed tomography findings were usual interstitial pneumonia (UIP; n = 1), non-specific interstitial pneumonia (NSIP; n = 63), NSIP with organizing pneumonia (OP) overlap (n = 15), and OP (n = 20)...
August 14, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28792799/investigating-associations-between-proliferation-indices-c-kit-and-lymph-node-stage-in-canine-mast-cell-tumors
#10
Erika Lauren Krick, Matti Kiupel, Amy C Durham, Tuddow Thaiwong, Dorothy C Brown, Karin U Sorenmo
Previous studies have evaluated cellular proliferation indices, KIT expression, and c-kit mutations to predict the clinical behavior of canine mast cell tumors (MCTs). The study purpose was to retrospectively compare mitotic index, argyrophilic nucleolar organizer regions (AgNORs)/nucleus, Ki-67 index, KIT labeling pattern, and internal tandem duplication mutations in c-KIT between stage I and stage II grade II MCTs. Medical records and tumor biopsy samples from dogs with Grade II MCTs with cytological or histopathological regional lymph node evaluation were included...
August 9, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/28700110/copper-alkyne-complexation-responsible-for-the-nucleolar-localization-of-quadruplex-nucleic-acid-drugs-labeled-by-click-reactions
#11
Joël Lefebvre, Corinne Guetta, Florent Poyer, Florence Mahuteau-Betzer, Marie-Paule Teulade-Fichou
G-Quadruplex(es) (G4) are noncanonical nucleic-acid structures found in guanine-rich sequences. They can be targeted with small molecules (G4 ligands) acting as reporters, for tracking both in vitro and in cells. We explored the cellular localization of PhenDC3 , one of the most powerful G4 ligands, by synthesizing two clickable azide and alkyne derivatives (PhenDC3 -alk, PhenDC3 -az) and labeling them in situ with the corresponding Cy5 click partners. A careful comparison of the results obtained for the copper-based CuAAC and copper-free SPAAC methodologies in fixed cells implicated Cu(I) /alkyne intermediates in the nonspecific localization of ligands (and fluorophores) to the nucleoli...
September 11, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28693516/pancreatic-metastasis-from-invasive-pleomorphic-lobular-carcinoma-of-the-breast-a-rare-case-report
#12
Xiangjie Sun, Ke Zuo, Dan Huang, Baohua Yu, Yufan Cheng, Wentao Yang
BACKGROUND: Invasive pleomorphic lobular carcinoma (PLC) is an aggressive subtype of invasive lobular carcinoma of the breast, which has its own histopathological and biological features. The metastatic patterns for PLC are distinct from those of invasive ductal carcinoma. In addition, pancreatic metastasis from PLC is extremely rare. CASE PRESENTATION: We report a rare case of a 48-year-old woman presenting with clinical gastrointestinal symptoms and pancreatic metastasis of PLC...
July 11, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28609676/hepatocellular-differentiation-status-is-characterized-by-distinct-subnuclear-localization-and-form-of-the-chanzyme-trpm7
#13
Adenike Ogunrinde, Robyn D Pereira, Natalie Beaton, D Hung Lam, Christiane Whetstone, Ceredwyn E Hill
The channel-kinase TRPM7 is important for the survival, proliferation, and differentiation, of many cell types. Both plasma membrane channel activity and kinase function are implicated in these roles. Channel activity is greater in less differentiated hepatoma cells compared with non-dividing, terminally differentiated adult hepatocytes, suggesting differences in protein expression and/or localization. We used electrophysiological and immunofluorescence approaches to establish whether hepatocellular differentiation is associated with altered TRPM7 expression...
June 10, 2017: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/28609254/chromosomal-diversity-of-three-species-of-hypostomus-lac%C3%A3-p%C3%A3-de-1803-siluriformes-loricariidae-from-the-paran%C3%A3-river-basin-brazil-a-species-complex-in-hypostomus-ancistroides-reinforced-by-a-zz-zw-sex-chromosome-system
#14
Marcia Cristina de Souza Lara Kamei, Lucas Baumgärtner, Suzana Paiva, Cláudio Henrique Zawadzki, Isabel Cristina Martins-Santos, Ana Luiza de Brito Portela-Castro
Hypostomus shows wide morphological patterns, corroborated by great chromosomal diversity that has suggested the existence of new species, especially from small tributaries. Cytogenetic analysis has contributed to estimate a cryptic diversity providing important data for taxonomic and evolutionary studies. Cytogenetic techniques were carried out on species from a small tributary of Ivaí River, Keller River (upper Paraná River basin): Hypostomus aff. ancistroides, Hypostomus topavae, and Hypostomus aff. hermanni that presented 2n = 68, 80, and 72 chromosomes, respectively...
August 2017: Zebrafish
https://www.readbyqxmd.com/read/28588071/the-rna-helicase-dhx9-establishes-nucleolar-heterochromatin-and-this-activity-is-required-for-embryonic-stem-cell-differentiation
#15
Sergio Leone, Dominik Bär, Coenraad Frederik Slabber, Damian Dalcher, Raffaella Santoro
Long non-coding RNAs (lncRNAs) have been implicated in the regulation of chromatin conformation and epigenetic patterns. lncRNA expression levels are widely taken as an indicator for functional properties. However, the role of RNA processing in modulating distinct features of the same lncRNA is less understood. The establishment of heterochromatin at rRNA genes depends on the processing of IGS-rRNA into pRNA, a reaction that is impaired in embryonic stem cells (ESCs) and activated only upon differentiation...
July 2017: EMBO Reports
https://www.readbyqxmd.com/read/28578939/clinical-significance-of-c-d-box-small-nucleolar-rna-u76-as-an-oncogene-and-a-prognostic-biomarker-in-hepatocellular-carcinoma
#16
Long Wu, Lei Chang, Haitao Wang, Weijie Ma, Qin Peng, Yufeng Yuan
BACKGROUND: Recent evidence has suggested novel roles of small nucleolar RNAs (snoRNAs) in tumorigenicity. However, the roles of C/D box snoRNA U76 (SNORD76) in the development of hepatocellular carcinoma (HCC) remain unknown. Herein, we systematically evaluated dysregulation of snoRNAs in HCC and clarified the biomarker potential and biological significance of SNORD76 in HCC. METHODS: We performed quantitative analyses of the expression of SNORD76 in 66 HCC specimens to compare its expression pattern between tumor tissue and matched non-tumor tissue...
May 31, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28575119/nucleolus-association-of-chromosomal-domains-is-largely-maintained-in-cellular-senescence-despite-massive-nuclear-reorganisation
#17
Stefan Dillinger, Tobias Straub, Attila Németh
Mammalian chromosomes are organized in structural and functional domains of 0.1-10 Mb, which are characterized by high self-association frequencies in the nuclear space and different contact probabilities with nuclear sub-compartments. They exhibit distinct chromatin modification patterns, gene expression levels and replication timing. Recently, nucleolus-associated chromosomal domains (NADs) have been discovered, yet their precise genomic organization and dynamics are still largely unknown. Here, we use nucleolus genomics and single-cell experiments to address these questions in human embryonic fibroblasts during replicative senescence...
2017: PloS One
https://www.readbyqxmd.com/read/28494440/nuclear-architecture-of-mouse-spermatocytes-chromosome-topology-heterochromatin-and-nucleolus
#18
REVIEW
Soledad Berrios
The nuclear organization of spermatocytes in meiotic prophase I is primarily determined by the synaptic organization of the bivalents that are bound by their telomeres to the nuclear envelope and described as arc-shaped trajectories through the 3D nuclear space. However, over this basic meiotic organization, a spermatocyte nuclear architecture arises that is based on higher-ordered patterns of spatial associations among chromosomal domains from different bivalents that are conditioned by the individual characteristics of chromosomes and the opportunity for interactions between their domains...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28483825/replication-of-ribosomal-dna-in-arabidopsis-occurs-both-inside-and-outside-of-the-nucleolus-during-s-phase-progression
#19
Martina Dvořáčková, Berta Raposo, Petr Matula, Joerg Fuchs, Veit Schubert, Vratislav Peška, Bénédicte Desvoyes, Crisanto Gutierrez, Jiří Fajkus
Ribosomal RNA genes (rDNA) have been used as valuable experimental systems in numerous studies. Here we focus on elucidating the spatio-temporal organisation of rDNA replication in Arabidopsis thaliana. To determine the subnuclear distribution of rDNA and the progression of its replication during S phase, we apply a 5-ethynyl-2'-deoxyuridine (EdU) labelling, fluorescence-activated cell sorting, fluorescence in situ hybridization, and structured illumination microscopy. We show that rDNA is replicated inside and outside the nucleolus where active transcription occurs at the same time...
May 8, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28468917/the-circadian-dynamics-of-small-nucleolar-rna-in-the-mouse-liver
#20
Stuart Aitken, Colin A Semple
The circadian regulation of gene expression allows plants and animals to anticipate predictable environmental changes. While the influence of the circadian clock has recently been shown to extend to ribosome biogenesis, the dynamics and regulation of the many small nucleolar RNA that are required in pre-ribosomal RNA folding and modification are unknown. Using a novel computational method, we show that 18S and 28S pre-rRNA are subject to circadian regulation in a nuclear RNA sequencing time course. A population of snoRNA with circadian expression is identified that is functionally associated with rRNA modification...
May 2017: Journal of the Royal Society, Interface
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