keyword
https://read.qxmd.com/read/37993585/research-progress-of-additional-pathogenic-mutations-in-chronic-neutrophilic-leukemia
#21
REVIEW
Jiapei Gao, Shuai Han, Bin Deng, Yifan Deng, Xiaohui Gao
Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm (MPN). Due to its nonspecific clinical symptoms and lack of specific molecular markers, it was previously difficult to distinguish it from other diseases with increased neutrophils. However, the discovery of the CSF3R mutation in CNL 10 years ago and the update of the diagnostic criteria by the World Health Organization (WHO) in 2016 brought CNL into a new era of molecular diagnosis. Next-generation sequencing (NGS) technology has led to the identification of numerous mutant genes in CNL...
November 22, 2023: Annals of Hematology
https://read.qxmd.com/read/37978423/molecular-characteristics-of-neisseria-meningitidis-carriage-strains-in-university-students-in-lithuania
#22
JOURNAL ARTICLE
Inga Ivaškevičienė, Justina Silickaitė, Asta Mačionienė, Rimvydas Ivaškevičius, Aistė Bulavaitė, Vilmantas Gėgžna, Silvija Kiverytė, Božena Paškevič, Aurelija Žvirblienė, Milda Plečkaitytė
BACKGROUND: Neisseria meningitidis can be carried asymptomatically in the human oropharynx without causing symptoms. Meningococcal carriage is relevant to the epidemiology of invasive meningococcal disease (IMD). No carriage studies have been performed among the general population in Lithuania, whereas the incidence of IMD in Lithuania was among the highest in European countries from 2009 to 2019. RESULTS: We analyzed a total of 401 oropharyngeal samples collected from university students from December 2021 to February 2023 for N...
November 17, 2023: BMC Microbiology
https://read.qxmd.com/read/37965009/comparative-genomics-profiling-revealed-multi-stress-responsive-roles-of-the-cc-nbs-lrr-genes-in-three-mango-cultivars
#23
JOURNAL ARTICLE
Muhammad Tahir Ul Qamar, Muhammad Sadaqat, Xi-Tong Zhu, Huan Li, Xing Huang, Kinza Fatima, Mashal M Almutairi, Ling-Ling Chen
The nucleotide-binding site-leucine-rich repeat (NBS-LRR) gene family is the largest group of disease resistance (R) genes in plants and is active in response to viruses, bacteria, and fungi usually involved in effector-triggered immunity (ETI). Pangenome-wide studies allow researchers to analyze the genetic diversity of multiple species or their members simultaneously, providing a comprehensive understanding of the evolutionary relationships and diversity present among them. The draft pan-genome of three Mangifera indica cultivars ( Alphonso, Hong Xiang Ya , and Tommy atkins ) was constructed and Presence/absence variants (PAVs) were filtered through the ppsPCP pipeline...
2023: Frontiers in Plant Science
https://read.qxmd.com/read/37914248/-chronic-neutrophilic-leukemia-chronic-eosinophilic-leukemia
#24
JOURNAL ARTICLE
Ichiro Kawashima, Keita Kirito
Chronic neutrophilic leukemia (CNL) is a clonal disorder that is characterized by increasing mature neutrophils. Colony stimulating factor 3 receptor (CSF3R) T618I mutation was frequently identified in patients with CNL and is defined as a molecular marker of the disease. Ruxolitinib, a JAK2 inhibitor, provided a promising therapeutic effect in a phase II study. In particular, ruxolitinib was more efficient for patients with CSF3R mutation. Allogeneic stem cell transplantation (Allo-SCT) may be a curative treatment for CNL...
2023: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://read.qxmd.com/read/37865800/re-stratification-of-patients-with-copy-number-low-endometrial-cancer-by-clinicopathological-characteristics
#25
JOURNAL ARTICLE
Li Liwei, Li He, Dai Yibo, Zhao Luyang, Shen Zhihui, Kang Nan, Shen Danhua, Wang Junzhu, Wang Zhiqi, Wang Jianliu
OBJECTIVE: To stratify patients with copy-number low (CNL) endometrial cancer (EC) by clinicopathological characteristics. METHODS: EC patients who underwent surgery between June 2018 and June 2022 at Peking University People's Hospital were included and further classified according to TCGA molecular subtyping: POLE ultramutated, microsatellite instability high (MSI-H), CNL, and copy-number high (CNH). Clinicopathological characteristics and prognosis of CNL patients were retrospectively reviewed...
October 21, 2023: World Journal of Surgical Oncology
https://read.qxmd.com/read/37849254/-risk-factor-analysis-of-lymph-node-metastasis-in-endometrial-carcinoma-combined-with-molecular-types
#26
JOURNAL ARTICLE
L L Li, H Li, J Li, X B Zhang, Z Q Wang, D H Shen, J L Wang
Objective: To investigate the relationships between molecular types of the cancer genome atlas (TCGA) of patients with endometrial carcinoma (EC) and lymph node metastasis and other clinicopathological features. Methods: The clinical pathological information of 295 patients with EC who underwent initial inpatient surgical treatment and accepted the detection of the molecular types of TCGA with next-generation sequencing technology at Peking University People's Hospital were collected during April 2016 and May 2022...
October 25, 2023: Zhonghua Fu Chan Ke za Zhi
https://read.qxmd.com/read/37839173/antineoplastic-effects-of-pharmacological-inhibitors-of-aurora-kinases-in-csf3r-t618i-driven-cells
#27
JOURNAL ARTICLE
Natália Sudan Parducci, Anali Del Milagro Bernabe Garnique, Keli Lima, Jorge Antonio Elias Godoy Carlos, Natasha Peixoto Fonseca, Lívia Bassani Lins de Miranda, Bruna Oliveira de Almeida, Eduardo Magalhães Rego, Fabiola Traina, João Agostinho Machado-Neto
Myeloproliferative neoplasms (MPN) are consolidated as a relevant group of diseases derived from the malfunction of the hematopoiesis process and have as a particular attribute the increased proliferation of myeloid lineage. Among these, chronic neutrophilic leukemia (CNL) is distinguished, caused by the T618I mutation of the CSF3R gene, a trait that generates ligand-independent receptor activation and downstream JAK2/STAT signaling. Previous studies reported that mutations in BCR::ABL1 and JAK2V617F increased the expression of the aurora kinase A (AURKA) and B (AURKB) in Ba/F3 cells and their pharmacological inhibition displays antineoplastic effects in human BCR::ABL1 and JAK2V617F positive cells...
October 9, 2023: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/37799585/biosynthesis-of-the-fungal-nonribosomal-peptide-penilumamide-a-and-biochemical-characterization-of-a-pterin-specific-adenylation-domain
#28
JOURNAL ARTICLE
Stephanie C Heard, Katharine L Diehl, Jaclyn M Winter
We report the characterization of the penilumamide biosynthetic cluster from Aspergillus flavipes CNL-338. In vitro reconstitution experiments demonstrated that three nonribosomal peptide synthetases are required for constructing the tripeptide and studies with dissected adenylation domains allowed for the first biochemical characterization of a domain that selects a pterin-derived building block.
October 4, 2023: RSC chemical biology
https://read.qxmd.com/read/37736793/a-phase-i-study-of-the-ceramide-nanoliposome-in-patients-with-advanced-solid-tumors
#29
JOURNAL ARTICLE
Aaron Ciner, Theodore Gourdin, Jeff Davidson, Mylisa Parette, Susan J Walker, Todd E Fox, Yixing Jiang
PURPOSE: Ceramide is a sphingolipid metabolite that deactivates multiple oncogenic signaling pathways and promotes cell death. In-vivo data demonstrate single-agent anti-cancer activity and enhanced efficacy with combination strategies. This phase I dose-escalation trial evaluated Ceramide nanoLiposomes (CNL) in patients with advanced solid tumors and no standard treatment option. METHODS: The primary objective was to establish the maximum tolerated dose. Secondary objectives included determining the recommended phase II dose, the safety and tolerability, the pharmacokinetic profile and preliminary anti-tumor efficacy...
September 22, 2023: Cancer Chemotherapy and Pharmacology
https://read.qxmd.com/read/37663475/characteristics-of-chaotic-weak-reflection-in-carbonate-fracture-cavity-reservoirs-a-case-study-of-ordovician-reservoirs-in-block-10-of-the-tahe-oilfield-tarim-basin-china
#30
JOURNAL ARTICLE
Zhipeng Sun, Ruizhao Yang, Penghui Yang, Shijie Zhang, Yuhao Li, Simin Zhao, Feng Geng
The identification of carbonate reservoirs is a critical task in oil and gas exploration. Chaotic weak reflection is an important type of reflection characteristic in carbonate reservoirs. Widespread distribution of chaotic weak reflection has been observed in the Ordovician Yijianfang Formation in the Tahe area. However, there is still a lack of systematic research on the distribution, characteristics, reservoir space, and reservoir types of chaotic weak reflection in the Tahe area. To address this issue, this study conducted a comprehensive analysis of multiscale data and found that chaotic weak reflections are distributed within 100 ms below the top interface of the Middle Ordovician...
August 29, 2023: ACS Omega
https://read.qxmd.com/read/37603445/predictors-of-clinical-nurse-leader-implementation-success-across-a-national-sample-of-settings-a-bayesian-multilevel-modeling-analysis
#31
JOURNAL ARTICLE
Marjory Williams, John David Coppin, Miriam Bender
INTRODUCTION: The Clinical Nurse Leader (CNL) care model is a different way of organizing frontline nursing care delivery in contrast to the traditional "staff nurse" model and is increasingly being adopted by health systems across the United States and abroad. However, variability in implementation and outcomes has been noted across health settings. AIM: A recently validated CNL Practice Model provides an explanatory pathway for CNL model integration into practice...
November 2023: Journal of Nursing Scholarship
https://read.qxmd.com/read/37549176/cumulative-neutral-loss-model-for-fragment-deconvolution-in-electrospray-ionization-high-resolution-mass-spectrometry-data
#32
JOURNAL ARTICLE
Denice van Herwerden, Jake W O'Brien, Sascha Lege, Bob W J Pirok, Kevin V Thomas, Saer Samanipour
Clean high-resolution mass spectra (HRMS) are essential to a successful structural elucidation of an unknown feature during nontarget analysis (NTA) workflows. This is a crucial step, particularly for the spectra generated during data-independent acquisition or during direct infusion experiments. The most commonly available tools only take advantage of the time domain for spectral cleanup. Here, we present an algorithm that combines the time domain and mass domain information to perform spectral deconvolution...
August 7, 2023: Analytical Chemistry
https://read.qxmd.com/read/37468695/p53-loss-of-heterozygosity-loh-in-formalin-fixed-paraffin-embedded-leiomyosarcoma-lms-a-novel-report
#33
JOURNAL ARTICLE
John N McMahon, Eoin F Gaffney, William J Aliaga-Kelly, John F Stephens, Amirhossein Jalali, Bernadette Curran
BACKGROUND: The occurrence of p53 loss of heterozygosity (LOH) is a common genetic event in malignancy. LOH occurs when a heterozygous locus loses one of its two parental alleles, becoming homozygous at that locus, by either copy number loss (CNL-LOH) or by becoming copy number neutral (CNN-LOH). A role for CNL-LOH (cnLOH) has been postulated in cancer aetiology. Loss of heterozygosity (LOH) results in irreversible genetic loss. AIMS: LOH was determined in DNA extracted from formalin-fixed paraffin-embedded (FFPE) leiomyosarcoma (LMS) specimens in a retrospective study from 30 patients, to assess the prognostic significance of LOH...
July 20, 2023: Irish Journal of Medical Science
https://read.qxmd.com/read/37439996/chronic-neutrophilic-leukemia-preceded-by-myelodysplastic-syndromes
#34
JOURNAL ARTICLE
Yuta Baba, Tsuyoshi Nakamaki, Hirotaka Sakai, Kunihiko Fukuchi, Nobuyuki Kabasawa, Norimichi Hattori, Hiroshi Harada
Chronic neutrophilic leukemia (CNL) is primarily diagnosed by excluding myelodysplastic syndromes (MDS). We report the case of a patient who developed secondary CNL 3 years after hypoplastic MDS. We used droplet digital polymerase chain reaction mutation detection assay to analyze genomic alterations during the progression from MDS to CNL. At the time of MDS diagnosis, U2AF1 Q157P and SETBP1 D868N were dominant and additional mutation of ASXL1 1934_insG was observed. CSF3R T618I and SETBP1 D868N were increasing at the time of CNL diagnosis...
July 13, 2023: International Journal of Hematology
https://read.qxmd.com/read/37434824/extremely-rare-chronic-neutrophilic-leukemia-characterized-by-unrelieved-abdominal-distention-and-swollen-painful-limbs-new-clinical-insight
#35
Zhimin Yan, Minjuan Zeng, Yanquan Liu
The pathogenesis of hematological tumors has not been fully elucidated. The academic community believes that genetic mutation abnormalities play a crucial role in the occurrence and development of hematological malignancies. Chronic neutrophilic leukemia (CNL) is a rare hematological tumor in the world. It is characterized by a Philadelphia chromosome BCR-ABL1-negative myeloproliferative tumor. It can be accompanied by mutations in various genes. Colony-stimulating factor 3 receptor (CSF3R) is a classic mutation in CNL and is included in the diagnostic criteria for CNL...
2023: American Journal of Translational Research
https://read.qxmd.com/read/37408775/identification-characterization-and-validation-of-nbs-encoding-genes-in-grass-pea
#36
JOURNAL ARTICLE
Alsamman M Alsamman, Khaled H Mousa, Ahmed E Nassar, Mostafa M Faheem, Khaled H Radwan, Monica H Adly, Ahmed Hussein, Tawffiq Istanbuli, Morad M Mokhtar, Tamer Ahmed Elakkad, Zakaria Kehel, Aladdin Hamwieh, Mohamed Abdelsattar, Achraf El Allali
Grass pea is a promising crop with the potential to provide food and fodder, but its genomics has not been adequately explored. Identifying genes for desirable traits, such as drought tolerance and disease resistance, is critical for improving the plant. Grass pea currently lacks known R-genes, including the nucleotide-binding site-leucine-rich repeat (NBS-LRR) gene family, which plays a key role in protecting the plant from biotic and abiotic stresses. In our study, we used the recently published grass pea genome and available transcriptomic data to identify 274 NBS-LRR genes...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37399403/nlrs-derepress-med10b-and-med7-mediated-repression-of-jasmonate-dependent-transcription-to-activate-immunity
#37
JOURNAL ARTICLE
Qian Wu, Cong Tong, Zhengqiang Chen, Shen Huang, Xiaohui Zhao, Hao Hong, Jia Li, Mingfeng Feng, Huiyuan Wang, Min Xu, Yuling Yan, Hongmin Cui, Danyu Shen, Gan Ai, Yi Xu, Junming Li, Hui Zhang, Changjun Huang, Zhongkai Zhang, Suomeng Dong, Xuan Wang, Min Zhu, Savithramma P Dinesh-Kumar, Xiaorong Tao
Plant intracellular nucleotide-binding domain, leucine-rich repeat-containing receptors (NLRs) activate a robust immune response upon detection of pathogen effectors. How NLRs induce downstream immune defense genes remains poorly understood. The Mediator complex plays a central role in transducing signals from gene-specific transcription factors to the transcription machinery for gene transcription/activation. In this study, we demonstrate that MED10b and MED7 of the Mediator complex mediate jasmonate-dependent transcription repression, and coiled-coil NLRs (CNLs) in Solanaceae modulate MED10b/MED7 to activate immunity...
July 11, 2023: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/37395413/csf3r-mutant-chronic-myelomonocytic-leukemia-is-a-distinct-clinically-subset-with-abysmal-prognosis-a-case-report-and-systematic-review-of-the-literature
#38
JOURNAL ARTICLE
Vincenzo Guastafierro, Marta Ubezio, Nicla Manes, Chiara Milanesi, Matteo Della Porta, Arturo Bonometti
Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) chacaterized by persistent peripheral blood monocytosis, hypercellular bone marrow and dysplasia at least in one myeloid lineage. CMML shares much of its molecular landscape with other myeloid neoplasms, while differs from others such as chronic neutrophilic leukemia (CNL), given the high frequency of CSF3R mutations in the latter. In this article, we report a case of CSF3R-mutated CMML and dissect this rare entity by reviewing the medical literature, with the intent to understand how this rare mutation shapes CMML's clinical and morphological phenotype...
September 2023: Leukemia & Lymphoma
https://read.qxmd.com/read/37374456/effect-of-varying-normal-stiffness-on-soft-rock-joints-under-cyclic-shear-loads
#39
JOURNAL ARTICLE
S M Mahdi Niktabar, K Seshagiri Rao, Amit Kumar Shrivastava, Jiří Ščučka
The evaluation of changes in shear resistance on soft (or weathered) rock joints under cyclic shear loads with constant normal load (CNL) and constant normal stiffness (CNS) significantly contributes to increasing the safety and stability of rock slopes and underground structures. In this study, a series of cyclic shear tests were conducted on simulated soft rock joints with regular (15°-15°, 30°-30°) and irregular (15°-30°) asperities under different normal stiffnesses ( kn )...
June 8, 2023: Materials
https://read.qxmd.com/read/37349986/a-plasma-membrane-nucleotide-binding-leucine-rich-receptor-mediates-the-recognition-of-the-ralstonia-pseudosolanacearum-effector-ripy-in-nicotiana-benthamiana
#40
JOURNAL ARTICLE
Boyoung Kim, Wenjia Yu, Haseong Kim, Qian Dong, Sera Choi, Maxim Prokchorchick, Alberto P Macho, Kee Hoon Sohn, Cécile Segonzac
Bacterial wilt disease caused by several Ralstonia species is one of the most destructive diseases in Solanaceae crops. Only a few functional resistance genes against bacterial wilt have been cloned so far. Here, we show that the broadly conserved type III secreted effector RipY is recognized by N. benthamiana immune system, leading to cell death induction, induction of defense-related gene expression, and restriction of bacterial pathogen growth. Using a multiplexed NbNLR-VIGS library, we identified a coiled-coil nucleotide-binding leucine-rich repeat receptor (CNL) required for recognition of RipY, which we named RESISTANCE TO RALSTONIA SOLANACEARUM RIPY (RRS-Y)...
June 21, 2023: Plant communications
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