keyword
https://read.qxmd.com/read/38149542/antibody-reactivity-to-mycobacterium-tuberculosis-specific-regions-of-differences-1-and-regions-of-differences-9-proteins-and-peptides-in-rabbits-mice-and-humans
#41
JOURNAL ARTICLE
Shumaila N M Hanif, R Al-Attiyah, A S Mustafa
BACKGROUND: The major antigens encoded by Mycobacterium tuberculosis-specific genomic regions of differences (RDs) could be useful in the development of new vaccines and/or diagnostic reagents using T-cell and/or antibody assays. In particular, RD1 proteins PE35, PPE68, ESXA, ESXB, and RD9 protein ESXV and their peptides have been identified as major T-cell antigens. However, little is known about their antibody reactivities in different mammalian species. This study aims to determine the antigen-specific antibody reactivities to the above antigens and their peptides in three different mammalian species, i...
2023: International Journal of Mycobacteriology
https://read.qxmd.com/read/38137045/expanding-genotype-phenotype-correlation-in-2p11-2-p12-microdeletion-syndrome
#42
JOURNAL ARTICLE
Alessandra Ferrario, Nijas Aliu, Claudine Rieubland, Sébastian Vuilleumier, Hilary M Grabe, Pascal Escher
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disorder including intellectual disability...
December 16, 2023: Genes
https://read.qxmd.com/read/38077073/-p-aeruginosa-controls-both-c-elegans-attraction-and-pathogenesis-by-regulating-nitrogen-assimilation
#43
Jacob G Marogi, Coleen T Murphy, Cameron Myhrvold, Zemer Gitai
Detecting chemical signals is important for identifying food sources and avoiding harmful agents. Like most animals, C. elegans use olfaction to chemotax towards their main food source, bacteria. However, little is known about the bacterial compounds governing C. elegans attraction to bacteria and the physiological importance of these compounds to bacteria. Here, we address these questions by investigating the function of a small RNA, P11, in the pathogen, Pseudomonas aeruginosa, that was previously shown to mediate learned pathogen avoidance...
November 29, 2023: bioRxiv
https://read.qxmd.com/read/38056049/clinical-whole-genome-sequencing-and-fish-identify-two-different-fusion-partners-for-nup98-in-a-patient-with-acute-myeloid-leukemia-a-case-report
#44
Bahareh A Mojarad, Zachary D Crees, Molly C Schroeder, Zhifu Xiang, Justin Vader, Jason Sina, Meagan Jacoby, John L Frater, Eric J Duncavage, David H Spencer, Kory Lavine, Julie A Neidich, Ina Amarillo
BACKGROUND: Only rare cases of acute myeloid leukemia (AML) have been shown to harbor a t(8;11)(p11.2;p15.4). This translocation is believed to involve the fusion of NSD3 or FGFR1 with NUP98; however, apart from targeted mRNA quantitative PCR analysis, no molecular approaches have been utilized to define the chimeric fusions present in these rare cases. CASE PRESENTATION: Here we present the case of a 51-year-old female with AML with myelodysplastic-related morphologic changes, 13q deletion and t(8;11), where initial fluorescence in situ hybridization (FISH) assays were consistent with the presence of NUP98 and FGFR1 rearrangements, and suggestive of NUP98/FGFR1 fusion...
January 2024: Cancer Genetics
https://read.qxmd.com/read/38005073/optimization-of-functional-toothpaste-formulation-containing-nano-hydroxyapatite-and-birch-extract-for-daily-oral-care
#45
JOURNAL ARTICLE
Alexandra-Diana Florea, Cristina Teodora Dobrota, Rahela Carpa, Csaba-Pal Racz, Gheorghe Tomoaia, Aurora Mocanu, Alexandra Avram, Olga Soritau, Lucian Cristian Pop, Maria Tomoaia-Cotisel
This research work aims to develop functional toothpastes with combined enamel remineralization and antibacterial effects using nano-hydroxyapatites (nHAPs) and birch extract. Eleven toothpastes (notated as P1-P11) were designed featuring different concentrations of birch extract and a constant concentration of pure nHAPs or substituted nHAPs (HAP-5%Zn, HAP-0.23%Mg-3.9%Zn-2%Si-10%Sr, and HAP-2.5%Mg-2.9%Si-1.34%Zn). In vitro assessments involved treating artificially demineralized enamel slices and analyzing surface repair and remineralization using Atomic Force Microscopy (AFM)...
November 13, 2023: Materials
https://read.qxmd.com/read/37994123/-prenatal-genetic-diagnosis-of-a-case-with-ring-chromosome-13
#46
JOURNAL ARTICLE
Lu Sun, Juan Wen, Guoming Chu, Guangrui Lai, Rong He
OBJECTIVE: To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT). METHODS: A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple...
December 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37993435/reduction-of-p11-in-dorsal-raphe-nucleus-serotonergic-neurons-mediates-depression-like-behaviors
#47
JOURNAL ARTICLE
Wei Li, Zuqi Shen, Xuan Yin, Weiqi Chang, Xiaorong Chen, Jin Yu, Shifen Xu
The pathology of depression is related to the imbalance of various neurotransmitters. The dorsal raphe nucleus (DRN), the main brain region producing 5-HT, is crucially involved in the pathophysiology of depression. It contains several neuron types, in which GABAergic neurons are activated by stimuli associated with negative experiences and 5-HT neurons are activated by reward signals. However, little is known about its underlying molecular mechanisms. Here, we found that p11, a multifunctional protein associated with depression, was down-regulated by chronic social defeat stress in 5-HTDRN neurons...
November 22, 2023: Translational Psychiatry
https://read.qxmd.com/read/37980303/clonal-hematopoiesis-of-a-novel-dic-18-20-clone-following-allogeneic-hematopoietic-stem-cell-transplantation
#48
JOURNAL ARTICLE
Makoto Ito, Nobuaki Fukushima, Tomoki Fujii, Masaya Numata, Shiori Morikawa, Yuma Kawamura, Miyo Goto, Akio Kohno, Nobuhiko Imahashi, Takahiko Yasuda, Masashi Sanada, Yuichi Ishikawa, Hitoshi Kiyoi, Kazutaka Ozeki
A 55-year-old man in first complete remission of acute myeloid leukemia with a normal karyotype underwent allogeneic hematopoietic stem cell transplantation from a human-leukocyte-antigen-matched sibling. Bone marrow examination on day 28 confirmed complete remission, but G-banding analysis revealed a novel chromosomal abnormality, including dic(18;20)(p11.2;q11.2). The patient developed moderate chronic graft-versus-host disease on day 174, and the abnormal clones identified by dic(18;20) significantly increased after that point...
January 2024: International Journal of Hematology
https://read.qxmd.com/read/37963514/role-of-mammalian-target-of-rapamycin-in-the-formation-and-progression-of-retinopathy-of-prematurity-like-vascular-abnormalities-in-neonatal-rats
#49
JOURNAL ARTICLE
Ayuki Nakano, Akane Morita, Shiho Arima, Tohru Nagamitsu, Tsutomu Nakahara
Retinopathy of prematurity (ROP), a retinal disease that can occur in premature infants, can lead to severe visual impairment. In this study, we examined the preventive and therapeutic effects of mammalian target of rapamycin complex 1 (mTORC1) inhibition on abnormal retinal blood vessels in a rat model of ROP. To induce ROP-like vascular abnormalities, rats were subcutaneously treated with KRN633, an inhibitor of vascular endothelial growth factor (VEGF) receptor tyrosine kinase, on postnatal day 7 (P7) and P8...
November 12, 2023: Microvascular Research
https://read.qxmd.com/read/37957344/smn-deficiency-perturbs-monoamine-neurotransmitter-metabolism-in-spinal-muscular-atrophy
#50
JOURNAL ARTICLE
Valeria Valsecchi, Francesco Errico, Valentina Bassareo, Carmen Marino, Tommaso Nuzzo, Paola Brancaccio, Giusy Laudati, Antonella Casamassa, Manuela Grimaldi, Adele D'Amico, Manolo Carta, Enrico Bertini, Giuseppe Pignataro, Anna Maria D'Ursi, Alessandro Usiello
Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral organs remain unclear. Using untargeted NMR-based metabolomics in SMA mice, we identify cerebral and hepatic abnormalities related to energy homeostasis pathways and amino acid metabolism, emerging already at postnatal day 3 (P3) in the liver...
November 13, 2023: Communications Biology
https://read.qxmd.com/read/37949450/discovery-of-tert-butyl-ester-based-6-diazo-5-oxo-l-norleucine-prodrugs-for-enhanced-metabolic-stability-and-tumor-delivery
#51
JOURNAL ARTICLE
Kateřina Novotná, Lukáš Tenora, Eva Prchalová, James Paule, Jesse Alt, Vijay Veeravalli, Jenny Lam, Ying Wu, Ivan Šnajdr, Sadakatali Gori, Vijaya Saradhi Mettu, Takashi Tsukamoto, Pavel Majer, Barbara S Slusher, Rana Rais
The glutamine antagonist 6-diazo-5-oxo-l-norleucine (DON) exhibits remarkable anticancer efficacy; however, its therapeutic potential is hindered by its toxicity to gastrointestinal (GI) tissues. We recently reported the discovery of DRP-104, a tumor-targeted DON prodrug with excellent efficacy and tolerability, which is currently in clinical trials. However, DRP-104 exhibits limited aqueous solubility, and the instability of its isopropyl ester promoiety leads to the formation of an inactive M1-metabolite, reducing overall systemic prodrug exposure...
November 10, 2023: Journal of Medicinal Chemistry
https://read.qxmd.com/read/37920958/prediction-of-early-antidepressant-efficacy-in-patients-with-major-depressive-disorder-based-on-multidimensional-features-of-rs-fmri-and-p11-gene-dna-methylation
#52
JOURNAL ARTICLE
Tianyu Wang, Chenjie Gao, Jiaxing Li, Lei Li, Yingying Yue, Xiaoyun Liu, Suzhen Chen, Zhenghua Hou, Yingying Yin, Wenhao Jiang, Zhi Xu, Youyong Kong, Yonggui Yuan
OBJECTIVE: This study established a machine learning model based on the multidimensional data of resting-state functional activity of the brain and P11 gene DNA methylation to predict the early efficacy of antidepressant treatment in patients with major depressive disorder (MDD). METHODS: A total of 98 Han Chinese MDD were analysed in this study. Patients were divided into 51 responders and 47 nonresponders according to whether the Hamilton Depression Rating Scale-17 items (HAMD-17) reduction rate was ≥50% after 2 weeks of antidepressant treatment...
November 3, 2023: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://read.qxmd.com/read/37899499/utility-of-immunohistochemistry-with-antibodies-to-ss18-ssx-chimeric-proteins-and-c-terminus-of-ssx-protein-for-synovial-sarcoma-differential-diagnosis
#53
JOURNAL ARTICLE
Jerzy Lasota, Małgorzata Chłopek, Maciej Kaczorowski, Klubíčková Natálie, Janusz Ryś, Janusz Kopczyński, Oksana Sulaieva, Michael Michal, Anna Kruczak, Agnieszka Harazin-Lechowska, Magdalena Szczepaniak, Olena Koshyk, Agnieszka Hałoń, Piotr Czapiewski, Zied Abdullaev, Artur Kowalik, Kenneth D Aldape, Michal Michal, Markku Miettinen
Synovial sarcoma is a relatively common soft tissue tumor characterized by highly specific t(X;18)(p11;q11) translocation resulting in the fusion of SS18 with members of SSX gene family. Typically, detection of SS18 locus rearrangement by fluorescence in situ hybridization or SS18 :: SSX fusion transcripts confirms the diagnosis. More recently, immunohistochemistry (IHC) for SS18-SSX chimeric protein (E9X9V) and C-terminus of SSX (E5A2C) showed high specificity and sensitivity for synovial sarcoma. This study screened a cohort of >1000 soft tissue and melanocytic tumors using IHC and E9X9V and E5A2C antibodies...
January 1, 2024: American Journal of Surgical Pathology
https://read.qxmd.com/read/37899318/-perivascular-epithelioid-cell-tumor-of-the-lung-a-clinicopathological-analysis-of-eight-cases
#54
JOURNAL ARTICLE
J Li, R P Huang, P Pang, X Guo, Y H Wang, L C Guo, S Huang
Objective: To investigate the clinicopathological features of perivascular epithelioid cell tumor (PEComa) of the lung. Methods: Eight PEComa cases of the lung diagnosed at the First Affiliated Hospital of Soochow University, Suzhou, China from July 2008 to December 2021 were collected and subject to immunohistochemical staining, fluorescence in situ hybridization and next generation sequencing. The relevant literature was reviewed and the clinicopathological features were analyzed. Results: There were 5 males and 3 females, aged from 18 to 70 years (mean 39 years)...
November 8, 2023: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://read.qxmd.com/read/37892132/recent-advances-in-molecular-and-cellular-functions-of-s100a10
#55
REVIEW
Gillian C Okura, Alamelu G Bharadwaj, David M Waisman
S100A10 (p11, annexin II light chain, calpactin light chain) is a multifunctional protein with a wide range of physiological activity. S100A10 is unique among the S100 family members of proteins since it does not bind to Ca2+ , despite its sequence and structural similarity. This review focuses on studies highlighting the structure, regulation, and binding partners of S100A10. The binding partners of S100A10 were collated and summarized.
September 26, 2023: Biomolecules
https://read.qxmd.com/read/37889065/pathogenetic-dichotomy-in-angioleiomyoma
#56
JOURNAL ARTICLE
Ioannis Panagopoulos, Kristin Andersen, Marta Brunetti, Ludmila Gorunova, Ilyá Kostolomov, Wanja Kildal, Hanne Regine Hognestad, Ingvild Lobmaier, Francesca Micci, Sverre Heim
BACKGROUND/AIM: Angioleiomyoma is a benign tumor, occurs at any age, and arises most frequently in the lower extremities. Genetic information on angioleiomyomas is restricted to six reported abnormal karyotypes, losses in chromosome 22 and gains in Xq found by comparative genomic hybridization, and mutation analysis of notch receptor 2 (NOTCH2), NOTCH3, platelet-derived growth factor receptor beta (PDGFRB), and mediator complex subunit 12 (MED12) in a few tumors. Herein, we report the genetic findings in another three angioleiomyomas...
2023: Cancer Genomics & Proteomics
https://read.qxmd.com/read/37881572/low-dopamine-d2-receptor-expression-drives-gene-networks-related-to-gaba-camp-growth-and-neuroinflammation-in-striatal-indirect-pathway-neurons
#57
JOURNAL ARTICLE
Lucia Guerri, Lauren K Dobbs, Daniel A da Silva E Silva, Allen Meyers, Aaron Ge, Lea Lecaj, Caroline Djakuduel, Damien Islek, Dionisio Hipolito, Abdiel Badillo Martinez, Pei-Hong Shen, Cheryl A Marietta, Susanna P Garamszegi, Enrico Capobianco, Zhijie Jiang, Melanie Schwandt, Deborah C Mash, Veronica A Alvarez, David Goldman
BACKGROUND: A salient effect of addictive drugs is to hijack the dopamine reward system, an evolutionarily conserved driver of goal-directed behavior and learning. Reduced dopamine type 2 receptor availability in the striatum is an important pathophysiological mechanism for addiction that is both consequential and causal for other molecular, cellular, and neuronal network differences etiologic for this disorder. Here, we sought to identify gene expression changes attributable to innate low expression of the Drd2 gene in the striatum and specific to striatal indirect medium spiny neurons (iMSNs)...
October 2023: Biol Psychiatry Glob Open Sci
https://read.qxmd.com/read/37864089/understanding-the-combining-ability-of-nutritional-agronomic-and-industrial-traits-in-soybean-f-2-progenies
#58
JOURNAL ARTICLE
Paulo Henrique Menezes das Chagas, Larissa Pereira Ribeiro Teodoro, Dthenifer Cordeiro Santana, Marcelo Carvalho Minhoto Teixeira Filho, Paulo Carteri Coradi, Francisco Eduardo Torres, Leonardo Lopes Bhering, Paulo Eduardo Teodoro
Obtaining soybean genotypes that combine better nutrient uptake, higher oil and protein levels in the grains, and high grain yield is one of the major challenges for current breeding programs. To avoid the development of unpromising populations, selecting parents for crossbreeding is a crucial step in the breeding pipeline. Therefore, our objective was to estimate the combining ability of soybean cultivars based on the F2 generation, aiming to identify superior segregating parents and populations for agronomic, nutritional and industrial traits...
October 20, 2023: Scientific Reports
https://read.qxmd.com/read/37842183/photobuforin-ii-a-fluorescent-photoswitchable-peptide
#59
JOURNAL ARTICLE
Cristina R Ventura, Gregory R Wiedman
Antimicrobial peptide buforin II translocates across the cell membrane and binds to DNA. Its sequence is identical to a portion of core histone protein H2A making it a highly charged peptide. Buforin II has a proline residue in the middle of its sequence that creates a helix-hinge-helix motif which has been found to play a key role in its ability to translocate across the cell membrane. To explore the structure-function relationship of this proline residue this study has replaced P11 with a meta-substituted azobenzene amino acid (Z)...
2023: BBA Adv
https://read.qxmd.com/read/37841434/leukemic-conversion-involving-ras-mutations-of-type-1-calr-mutated-primary-myelofibrosis-in-a-patient-treated-for-hcv-cirrhosis-a-case-report
#60
Petruta Gurban, Cristina Mambet, Anca Botezatu, Laura G Necula, Ana I Neagu, Lilia Matei, Ioana M Pitica, Saviana Nedeianu, Mihaela Chivu-Economescu, Coralia Bleotu, Marius Ataman, Gabriela Mocanu, Carmen Saguna, Anca G Pavel, Danae Stambouli, Elise Sepulchre, Gabriela Anton, Carmen C Diaconu, Stefan N Constantinescu
Somatic frameshift mutations in exon 9 of calreticulin ( CALR ) gene are recognized as disease drivers in primary myelofibrosis (PMF), one of the three classical Philadelphia-negative myeloproliferative neoplasms (MPNs). Type 1/type 1-like CALR mutations particularly confer a favorable prognostic and survival advantage in PMF patients. We report an unusual case of PMF incidentally diagnosed in a 68-year-old woman known with hepatitis C virus (HCV) cirrhosis who developed a progressive painful splenomegaly, without anomalies in blood cell counts...
2023: Frontiers in Oncology
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