keyword
https://read.qxmd.com/read/38290780/autoantibodies-to-nuclear-valosin-containing-protein-like-protein-systemic-sclerosis-specific-antibodies-revealed-by-in-vitro-human-proteome
#1
JOURNAL ARTICLE
Kazuki M Matsuda, Hirohito Kotani, Kei Yamaguchi, Chihiro Ono, Taishi Okumura, Koji Ogawa, Ayako Miya, Ayaka Sato, Rikako Uchino, Murakami Yumi, Hiroshi Matsunaka, Masanori Kono, Yuta Norimatsu, Teruyoshi Hisamoto, Ruriko Kawanabe, Ai Kuzumi, Takemichi Fukasawa, Asako Yoshizaki-Ogawa, Tomohisa Okamura, Hirofumi Shoda, Keishi Fujio, Takashi Matsushita, Naoki Goshima, Shinichi Sato, Ayumi Yoshizaki
OBJECTIVES: To identify and characterize undescribed systemic sclerosis (SSc)-specific autoantibodies targeting nucleolar antigens and to assess their clinical significance. METHODS: We conducted proteome-wide autoantibody screening (PWAS) against serum samples from SSc patients with nucleolar patterned anti-nuclear antibodies (NUC-ANAs) of specific antibodies (Abs) unknown, utilizing wet protein arrays fabricated from in vitro human proteome. Controls included SSc patients with already-known SSc-specific autoantibodies, patients with other connective tissue diseases, and healthy subjects...
January 30, 2024: Rheumatology
https://read.qxmd.com/read/38022160/the-role-of-indirect-immunofluorescence-iif-and-line-immunoassay-lia-in-the-diagnosis-of-autoimmune-diseases-and-their-clinical-correlation-an-observational-study-from-a-tertiary-care-center-in-bihar
#2
JOURNAL ARTICLE
Avinash Kumar, Akash Bansal, Mala Mahto, Bandana Kumari, Sushil Kumar, Ayan Banerjee, Visesh Kumar, Javin B Gogoi
Background and aim The presence of distinct sets of autoantigens and autoantibodies bestow these autoimmune diseases (ADs) with specific immune profiles or fingerprints, which has cleared the diagnostic dilemma associated with these ADs. This study was planned to collate and compare the reporting of indirect immunofluorescence (IIF) with line immunoassay (LIA) and their clinical correlations. This study was conducted to investigate the association between the reporting of anti-nuclear antibody (ANA) screening by IIF and ANA profile reporting by LIA...
October 2023: Curēus
https://read.qxmd.com/read/37832384/trypanosoma-cruzi-fibrillarins-two-paralogous-proteins-with-non-identical-signals-for-nuclear-transport
#3
JOURNAL ARTICLE
Arturo Andrade-Salas, Israel Canela-Pérez, Ana María Cevallos, Imelda López-Villaseñor, Roberto Hernández
Trypanosoma cruzi is a parasitic protozoa causative of Chagas disease. As part of our interest in studying the basic biology of this microorganism, this work reports our observations related to the characterization of motifs and structural domains present in two fibrillarin isoforms (TcFib1 and TcFib2) that were found to be necessary for the nuclear targeting of these nucleolar proteins. Previous characterization of these proteins indicated that they share 68.67% of identical amino acids and are both expressed as nucleolar proteins in T...
October 7, 2023: Biochemical and Biophysical Research Communications
https://read.qxmd.com/read/37505750/what-is-the-role-of-snora42-in-carcinogenesis-a-systematic-review
#4
JOURNAL ARTICLE
Eldevan Da Silva Barbosa, Ana Gabrielly De Melo Matos, Marcelli Geisse De Oliveira Prata Da Silva, Matheus Silva Alves, Antonio Augusto Lima Teixeira-Júnior, Wesliany Everton Duarte, Alania Frank Mendonça, Carolina Rosal Teixeira De Souza, Marcelo Souza De Andrade, André Salim Khayat, Juliana Maria Trindade Bezerra, Jaqueline Diniz Pinho
OBJECTIVE: Perform a systematic literature review on SNORA42 in carcinogenesis in order to elucidate its importance, its potential use as a biomarker and as a therapeutic target. METHODS: Using PubMed, SciELO and Science Direct databases as search means, articles that are in line with the scope of the study, written in English, that were published between 2012 and 2022, were selected using the following keywords: "small nucleolar RNA 42", "snoRNA 42" and "SNORA42", as well as searches for the synonyms of this snoRNA (SNORA80E, box H/ACA 42 and ACA42)...
July 1, 2023: Asian Pacific Journal of Cancer Prevention: APJCP
https://read.qxmd.com/read/37447076/combination-of-iron-and-zinc-enhanced-the-root-cell-division-mitotic-regularity-and-nucleolar-activity-of-hexaploid-triticale
#5
JOURNAL ARTICLE
Ana Carvalho, Alexandra Lino, Carolina Alves, Catarina Lino, Débora Vareiro, Diogo Lucas, Gabriela Afonso, José Costa, Margarida Esteves, Maria Gaspar, Mário Bezerra, Vladimir Mendes, José Lima-Brito
Hexaploid triticale results from crosses between durum wheat and rye. Despite its high agronomic potential, triticale is mainly used for livestock feed. Triticale surpasses their parental species in adaptability and tolerance to abiotic and biotic stresses, being able to grow in acidic soils where a high amount of iron (Fe) and zinc (Zn) is typical. On the other hand, high amounts of these essential trace elements can be cytotoxic to bread wheat. The cytotoxicity induced by seed priming with a high concentration of Fe and Zn impaired root cell division and induced nucleolar changes in bread wheat...
June 30, 2023: Plants (Basel, Switzerland)
https://read.qxmd.com/read/37359557/the-axis-of-complement-c1-and-nucleolus-in-antinuclear-autoimmunity
#6
REVIEW
Shan Wu, Junjie Chen, Boon Heng Dennis Teo, Seng Yin Kelly Wee, Ming Hui Millie Wong, Jianzhou Cui, Jinmiao Chen, Khai Pang Leong, Jinhua Lu
Antinuclear autoantibodies (ANA) are heterogeneous self-reactive antibodies that target the chromatin network, the speckled, the nucleoli, and other nuclear regions. The immunological aberration for ANA production remains partially understood, but ANA are known to be pathogenic, especially, in systemic lupus erythematosus (SLE). Most SLE patients exhibit a highly polygenic disease involving multiple organs, but in rare complement C1q, C1r, or C1s deficiencies, the disease can become largely monogenic. Increasing evidence point to intrinsic autoimmunogenicity of the nuclei...
2023: Frontiers in Immunology
https://read.qxmd.com/read/37082498/paraneoplastic-scleroderma-a-case-report-of-systemic-sclerosis-in-the-setting-of-pulmonary-adenocarcinoma
#7
Christopher Marsalisi, Avni Agrawal, Abhinav Karan, Zachary Chandler, Pramod Reddy
A 42-year-old female with a past medical history significant for scleroderma and extensive tobacco use presented with a dry cough and pleuritic chest pain. Further workup was significant for leukocytosis, macrocytic anemia, left lower lung mass, bilateral supraclavicular, hilar, and mediastinal lymphadenopathy. After a comprehensive rheumatologic workup was completed, the patient was found to have strongly positive antinuclear antibody (ANA) and negative scleroderma-specific antibodies with fluorescent ANA indicating a nucleolar pattern...
March 2023: Curēus
https://read.qxmd.com/read/37057675/lhx2-haploinsufficiency-causes-a-variable-neurodevelopmental-disorder
#8
JOURNAL ARTICLE
Cosima M Schmid, Anne Gregor, Gregory Costain, Chantal F Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol J Saunders, Ana S A Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O'Donnell-Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela Schweitzer, Darius Ebrahimi-Fakhari, Kristin Monaghan, Timothy Blake Palculict, Melanie P Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Wendy K Chung, Christiane Zweier
PURPOSE: LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but has not been clearly linked to neurodevelopmental disorders (NDD) to date. METHODS: Through international collaboration, we identified 19 individuals from 18 families with variable neurodevelopmental phenotypes, carrying a small chromosomal deletion, likely gene-disrupting or missense variants in LHX2. Functional consequences of missense variants were investigated in cellular systems...
April 10, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/36930749/cytogenetic-and-molecular-characterization-of-eigenmannia-aff-desantanai-gymnotiformes-sternopygidae-a-first-report-of-system-of-sex-chromosomes-zw-1-w-2-zz-in-gymnotiformes
#9
JOURNAL ARTICLE
Laís de Araújo, Laura Ivana Ramos, Margarida Maria de Rossi Vieira, Alessandra Valéria de Oliveira, Ana Luiza de Brito Portela-Castro, Luciana Andreia Borin-Carvalho, Carlos Alexandre Fernandes
Gymnotiformes a monophyletic group of fish endemic to the Neotropics, represent an important component of the freshwater ichthyofauna that presents relevant taxonomic problems. Thus, in view of the morphological complexity involving Eigenmannia (Gymnotiformes) fish species, this study aimed to characterize Eigenmannia aff. desantanai of the upper Paraguay River basin through cytogenetic and molecular analyses, to help in the correct identification and delimitation of species. This study reports a multiple sex system of the type ZW1 W2 /ZZ, with 2 n  = 31 for females and 2 n  = 30 for males...
March 16, 2023: Zebrafish
https://read.qxmd.com/read/36873897/fine-tuning-characterization-of-patients-with-interstitial-pneumonia-and-an-underlying-autoimmune-disease-in-real-world-practice-we-get-closer-with-nailfold-videocapillaroscopy
#10
JOURNAL ARTICLE
Fredeswinda Isabel Romero-Bueno, Maria Jesús Rodríguez-Nieto, Carmelo Palacios Miras, Lina Martínez Estupiñán, Maria José Martínez-Becerra, Maria Carmen Vegas Sánchez, Oderay Mabel Cedeño Díaz, Olga Sánchez-Pernaute
OBJECTIVES: To assess performance of interstitial pneumonia (IP) with autoimmune features (IPAF) criteria in clinical practice and describe the utility of additional workup in identifying patients with underlying connective tissue diseases (CTD). METHODS: We set a retrospective study of our patients with autoimmune IP, who were allocated to CTD-IP, IPAF or undifferentiated autoimmune IP (uAIP) subgroups according to the updated classification criteria. Presence of the process-related variables comprising IPAF defining domains was scrutinized in all patients, and, when available, the results of nailfold videocapillaroscopy (NVC) were recorded...
2023: Frontiers in Medicine
https://read.qxmd.com/read/36843114/integrative-phosphoproteomics-defines-two-biologically-distinct-groups-of-kmt2a-rearranged-acute-myeloid-leukaemia-with-different-drug-response-phenotypes
#11
JOURNAL ARTICLE
Pedro Casado, Ana Rio-Machin, Juho J Miettinen, Findlay Bewicke-Copley, Kevin Rouault-Pierre, Szilvia Krizsan, Alun Parsons, Vinothini Rajeeve, Farideh Miraki-Moud, David C Taussig, Csaba Bödör, John Gribben, Caroline Heckman, Jude Fitzgibbon, Pedro R Cutillas
Acute myeloid leukaemia (AML) patients harbouring certain chromosome abnormalities have particularly adverse prognosis. For these patients, targeted therapies have not yet made a significant clinical impact. To understand the molecular landscape of poor prognosis AML we profiled 74 patients from two different centres (in UK and Finland) at the proteomic, phosphoproteomic and drug response phenotypic levels. These data were complemented with transcriptomics analysis for 39 cases. Data integration highlighted a phosphoproteomics signature that define two biologically distinct groups of KMT2A rearranged leukaemia, which we term MLLGA and MLLGB...
February 27, 2023: Signal Transduction and Targeted Therapy
https://read.qxmd.com/read/36711072/atypical-linear-atrophoderma-of-moulin-complicated-with-elevated-immunoglobulin-m-a-case-report
#12
Chenyu Tang, Ping Wang
Linear atrophoderma of Moulin (LAM) is a rare acquired skin disease. Clinically, LAM is characterized by hyperpigmented and atrophic unilateral band-like or linear dermatoses of variable size following the Blaschko lines. The lesions do not present induration or sclerosis. Its course is asymptomatic without systemic involvement or progression. The etiology of LAM is still unclear. Based on the characteristics of its skin lesions distributed along the Blaschko lines, some scholars speculate that its pathogenesis may be related to chromosome mosaicism...
2023: Clinical, Cosmetic and Investigational Dermatology
https://read.qxmd.com/read/36308197/feasibility-of-indirect-immunofluorescence-iif-alone-as-a-screening-method-for-antinuclear-antibody-in-connective-diseases-in-india-s-sub-himalayan-region
#13
JOURNAL ARTICLE
Deepjyoti Kalita, U Sashi Rekha, Anusha K Raj, Putul Mahanta, Pratima Gupta, Sangeeta Deka
BACKGROUND: For the management of connective tissue disorders (CTDs), antinuclear antibody (ANA) testing is essential, both from diagnostic and prognostic points of view. Usually, patterns obtained by ANA-IIF testing correlates to specific autoantibodies as obtained from the test for ENA (by LIA/ELISA, etc.). But to apply these data from western studies, we may need validation in the local population like our subjects in sub-Himalayan (Garhwal region) area where CTDs are common. Also, suppose ANA-IFA pattern's correlation is reliably known in our population, it can minimize the cost of managing CTDs by limiting ENA testing, which is 10 times costlier than ANA-IIF...
2022: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/36306198/pict-1-regulates-p53-splicing-and-sensitivity-of-medullary-thyroid-carcinoma-cells-to-everolimus
#14
JOURNAL ARTICLE
Yifat Bareli, Ilan Shimon, Ana Tobar, Hadara Rubinfeld
Protein interacting with carboxyl terminus 1 (PICT-1) is a nucleolar protein shown to act as a tumor suppressor that interacts with PTEN, or in a contrasting manner to facilitate the accessibility of p53 to ubiquitination and degradation, thus to function as an oncogene. The aim of the study was to examine the potential role of PICT-1 in neuroendocrine neoplasm (NEN) tumorigenesis and response to mTOR inhibitor treatment. PICT-1 was overexpressed in medullary thyroid (TT) and pancreatic (BON1) NEN cell lines using lentiviral vector...
October 2022: Journal of Neuroendocrinology
https://read.qxmd.com/read/36009362/a-nop56-zebrafish-loss-of-function-model-exhibits-a-severe-neurodegenerative-phenotype
#15
JOURNAL ARTICLE
Ana Quelle-Regaldie, Mónica Folgueira, Julián Yáñez, Daniel Sobrido-Cameán, Anabel Alba-González, Antón Barreiro-Iglesias, María-Jesús Sobrido, Laura Sánchez
NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An intronic expansion in NOP56 gene causes Spinocerebellar Ataxia type 36, a typical late-onset autosomal dominant ataxia. Although vertebrate animal models were created for the intronic expansion, none was studied for the loss of function of NOP56 . We studied a zebrafish loss-of-function model of the nop56 gene which shows 70% homology with the human gene...
July 28, 2022: Biomedicines
https://read.qxmd.com/read/35961773/deep-sequencing-of-short-capped-rnas-reveals-novel-families-of-noncoding-rnas
#16
JOURNAL ARTICLE
Michiel Jan Laurens De Hoon, Alessandro Bonetti, Charles Plessy, Yoshinari Ando, Chung-Chau Hon, Yuri Ishizu, Masayoshi Itoh, Sachi Katoh, Dongyan Lin, Sho Maekawa, Mitsuyoshi Murata, Hiromi Nishiyori, Jay W Shin, Jens Stolte, Ana Maria Suzuki, Michihira Tagami, Hazuki Takahashi, Supat Thongjuea, Alistair Rr Forrest, Yoshihide Hayashizaki, Juha Kere, Piero Carninci
In eukaryotes, capped RNAs include long transcripts such as messenger RNAs and long noncoding RNAs, as well as shorter transcripts such as spliceosomal RNAs, small nucleolar RNAs, and enhancer RNAs. Long capped transcripts can be profiled using Cap Analysis Gene Expression (CAGE) sequencing and other methods. Here, we describe a sequencing library preparation protocol for short capped RNAs, apply it to a differentiation time course of the human cell line THP-1, and systematically compare the landscape of short capped RNAs to that of long capped RNAs...
August 12, 2022: Genome Research
https://read.qxmd.com/read/35899599/patterns-of-antinuclear-antibodies-in-a-new-variant-of-endemic-pemphigus-in-el-bagre-colombia-colocalizing-with-antigens-against-mizap-arvcf-p0071-and-desmoplakins-i-and-ii
#17
JOURNAL ARTICLE
Ana Maria Abreu Velez, Yulieth Alexandra Upegui-Zapata, Carlos Andres Valencia-Yepes, Eduardo Upegui-Quiceño, Michael S Howard
BACKGROUND: A new variant of endemic pemphigus foliaceus (EPF) has been documented, El Bagre-EPF. We aimed to study antinuclear antibodies (ANAs) in these patients. METHODS: We performed a case-control study, testing 57 patients affected by this disease and 57 controls from the endemic area matched by work activity and demographics. The participants were evaluated clinically as well as by detection of ANAs utilizing HEp-2 cells. We utilized Triton-induced partial permeabilization of the cell membranes, allowing for the visualization of intracellular and intranuclear antigens...
July 28, 2022: Journal of Applied Laboratory Medicine
https://read.qxmd.com/read/35682786/curvicollide-d-isolated-from-the-fungus-amesia-sp-kills-african-trypanosomes-by-inhibiting-transcription
#18
JOURNAL ARTICLE
Matilde Ortiz-Gonzalez, Ignacio Pérez-Victoria, Inmaculada Ramirez-Macias, Nuria de Pedro, Angel Linde-Rodriguez, Víctor González-Menéndez, Victoria Sanchez-Martin, Jesús Martín, Ana Soriano-Lerma, Olga Genilloud, Virginia Perez-Carrasco, Francisca Vicente, José Maceira, Carlos A Rodrígues-Poveda, José María Navarro-Marí, Fernando Reyes, Miguel Soriano, Jose A Garcia-Salcedo
Sleeping sickness or African trypanosomiasis is a serious health concern with an added socio-economic impact in sub-Saharan Africa due to direct infection in both humans and their domestic livestock. There is no vaccine available against African trypanosomes and its treatment relies only on chemotherapy. Although the current drugs are effective, most of them are far from the modern concept of a drug in terms of toxicity, specificity and therapeutic regime. In a search for new molecules with trypanocidal activity, a high throughput screening of 2000 microbial extracts was performed...
May 29, 2022: International Journal of Molecular Sciences
https://read.qxmd.com/read/35681628/gallic-acid-a-natural-phenolic-compound-exerting-antitumoral-activities-in-colorectal-cancer-via-interaction-with-g-quadruplexes
#19
JOURNAL ARTICLE
Victoria Sanchez-Martin, María Del Carmen Plaza-Calonge, Ana Soriano-Lerma, Matilde Ortiz-Gonzalez, Angel Linde-Rodriguez, Virginia Perez-Carrasco, Inmaculada Ramirez-Macias, Marta Cuadros, Jose Gutierrez-Fernandez, Javier Murciano-Calles, Juan Carlos Rodríguez-Manzaneque, Miguel Soriano, Jose Antonio Garcia-Salcedo
Natural phenolic compounds have gained momentum for the prevention and treatment of cancer, but their antitumoral mechanism of action is not yet well understood. In the present study, we screened the antitumoral potential of several phenolic compounds in a cellular model of colorectal cancer (CRC). We selected gallic acid (GA) as a candidate in terms of potency and selectivity and extensively evaluated its biological activity. We report on the role of GA as a ligand of DNA G-quadruplexes (G4s), explaining several of its antitumoral effects, including the transcriptional inhibition of ribosomal and CMYC genes...
May 26, 2022: Cancers
https://read.qxmd.com/read/35585632/raynaud-s-phenomenon-and-positive-antinuclear-antibodies-as-first-manifestation-of-poems-syndrome-polyneuropathy-organomegaly-endocrinopathy-monoclonal-gammopathy-and-skin-changes-a-case-report
#20
JOURNAL ARTICLE
Fabio Torres-Saavedra, Lina León-Sierra
BACKGROUND: POEMS syndrome is a rare paraneoplastic syndrome caused by plasma cell disorder almost always lambda restricted. Secondary Raynaud's phenomenon is an overlooked skin manifestation of the disease even though it is present in twenty percent of patients. On POEMS syndrome have not been described positive antinuclear antibodies (ANA) and this could lead to a misdiagnosis of autoimmune disease, mainly systemic sclerosis. CASE PRESENTATION: A 47-year-old man presented with color changes on fingertips consistent with biphasic Raynaud's phenomenon; an antinuclear antibody test was positive (at 1:320 titers in a speckled pattern) with normal nailfold capillaroscopy...
May 19, 2022: BMC rheumatology
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