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JOURNAL ARTICLE
Sushil Kumar Sharma, Paban Kumar Dash, Ram Govind Yadav, Ambuj Shrivastava, Rohit Menon, Jyoti S Kumar, Shashi Sharma, Suman Dhankher, Sunil Dhiman, Divya Kumari, Manisha Shukla, Vineet Relhan, Suresh Kumar, Manmohan Parida
Mpox (previously known as Monkeypox) has recently re-emerged, primarily through human-to-human transmission in non-endemic countries including India. Virus isolation is still considered as the gold standard for diagnosis of viral infections. Here, the qPCR positive skin lesion sample from a patient was inoculated in Vero E6 cell monolayer. Characteristic cytopathic effect exhibiting typical cell rounding and detachment was observed at passage-02. The virus isolation was confirmed by qPCR. The replication kinetics of the isolate was determined that revealed maximum viral titre of log 6...
July 2023: Journal of Medical Virology
#22
Ana Karina Zambrano, Elius Paz-Cruz, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A Ruiz-Pozo, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ricardo Hidalgo
INTRODUCTION: Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 ( EYA4 ) gene, a transcription factor related to the development and function of the inner ear. Emery-Dreifuss muscular dystrophy is a rare inherited disease characterized by atrophy and weakness of the humeroperoneal muscles, multi-joint contractures, and cardiac manifestations. It is inherited in an autosomal-dominant, X-linked, or less frequently autosomal recessive manner; one of the genes associated with EDMD is the emerin ( EMD) gene...
2023: Frontiers in Neurology
#23
JOURNAL ARTICLE
Yiquan Xu, Jingjing Yan, Chengzhi Zhou, Lin Wu, Haibo Wang, Jun Zhao, Maolin Zhou, Jingyi Wang, Xinlong Zheng, Longfeng Zhang, Kan Jiang, Xiaobin Zheng, Qian Miao, Shiwen Wu, Zihua Zou, Rong Lian, Yuange He, Rongrong Chen, Shanshan Yang, Yujing Li, Sihui Chen, Gen Lin
BACKGROUND: Non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutation generally respond well to epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs). However, genomic characterisation of de novo EGFR copy number gain (CNG) and its impact on the efficacy of first-line EGFR-TKIs remains unclear. METHODS: This multicenter, retrospective and real-world study included two cohorts that enroled EGFR mutant NSCLC patients...
April 20, 2023: European Journal of Cancer
#24
Lan Jiang, Sheng-Cai Wang, Jie Zhang, Fu-Gen Han, Jing Zhao, Ying Xu
BACKGROUND: We report the genetic etiology of a case of bilateral vocal cord paralysis in a female infant. CASE DESCRIPTION: The female infant developed dyspnea after birth, which improved with treatment, allowing her to be discharged from the local hospital. At 2 months of age, the child experienced a recurrence of dyspnea and was treated in a local hospital with interventions such as tracheal intubation and mechanical ventilation. However, as the child continued to suffer from dyspnea, she was transferred to the neonatal intensive care unit of the Children's Hospital affiliated to Zhengzhou University for further treatment...
2023: Pharmacogenomics and Personalized Medicine
#25
JOURNAL ARTICLE
Irene Orlow, Keimya D Sadeghi, Sharon N Edmiston, Jessica M Kenney, Cecilia Lezcano, James S Wilmott, Anne E Cust, Richard A Scolyer, Graham J Mann, Tim K Lee, Hazel Burke, Valerie Jakrot, Ping Shang, Peter M Ferguson, Tawny W Boyce, Jennifer S Ko, Peter Ngo, Pauline Funchain, Judy R Rees, Kelli O'Connell, Honglin Hao, Eloise Parrish, Kathleen Conway, Paul B Googe, David W Ollila, Stergios J Moschos, Eva Hernando, Douglas Hanniford, Diana Argibay, Christopher I Amos, Jeffrey E Lee, Iman Osman, Li Luo, Pei-Fen Kuan, Arshi Aurora, Bonnie E Gould Rothberg, Marcus W Bosenberg, Meg R Gerstenblith, Cheryl Thompson, Paul N Bogner, Ivan P Gorlov, Sheri L Holmen, Elise K Brunsgaard, Yvonne M Saenger, Ronglai Shen, Venkatraman Seshan, Eduardo Nagore, Marc S Ernstoff, Klaus J Busam, Colin B Begg, Nancy E Thomas, Marianne Berwick
INTRODUCTION: We are conducting a multicenter study to identify classifiers predictive of disease-specific survival in patients with primary melanomas. Here we delineate the unique aspects, challenges, and best practices for optimizing a study of generally small-sized pigmented tumor samples including primary melanomas of at least 1.05mm from AJTCC TNM stage IIA-IIID patients. We also evaluated tissue-derived predictors of extracted nucleic acids' quality and success in downstream testing...
2023: PloS One
#26
JOURNAL ARTICLE
Taihua Yang, Lei Xia, Gen Li, Jie Zhao, Jie Li, Jiahao Ge, Qinggong Yuan, Jianjun Zhang, Kang He, Qiang Xia
The intracellular delivery of messenger (m)RNA holds great potential for the discovery and development of vaccines and therapeutics. Yet, in many applications, a major obstacle to clinical translation of mRNA therapy is the lack of efficient strategy to precisely deliver RNA sequence to liver tissues and cells. In this study, we synthesized virus-like mesoporous silica (V-SiO2 ) nanoparticles for effectively deliver the therapeutic RNA. Then, the cationic polymer polyethylenimine (PEI) was included for the further silica surface modification (V-SiO2 -P)...
2023: Frontiers in Bioengineering and Biotechnology
#27
JOURNAL ARTICLE
Romney M Humphries, Eugene Bragin, Julian Parkhill, Grace Morales, Jonathan E Schmitz, Paul A Rhodes
The declining cost of performing bacterial whole-genome sequencing (WGS) coupled with the availability of large libraries of sequence data for well-characterized isolates have enabled the application of machine-learning (ML) methods to the development of nonlinear sequence-based predictive models. We tested the ML-based model developed by Next Gen Diagnostics for prediction of cefepime phenotypic susceptibility results in Escherichia coli. A cohort of 100 isolates of E. coli recovered from urine ( n = 77) and blood ( n = 23) cultures were used...
February 22, 2023: Journal of Clinical Microbiology
#28
JOURNAL ARTICLE
Madhumathy G Nair, Rakesh S Ramesh, Chandrakala M Naidu, Apoorva D Mavatkar, Snijesh V P, Vishakha Ramamurthy, Vidya M Somashekaraiah, Anupama C E, Kiruthiga Raghunathan, Anuradha Panigrahi, Manjula Das, Sujan K Dhar, Jyothi S Prabhu
BACKGROUND: Liquid biopsy is widely recognized as an efficient diagnostic method in oncology for disease detection and monitoring. Though the examination of circulating tumor cells (CTC) is mostly implemented for the assessment of genomic aberrations, the need of complex methodologies for their detection has impeded its acceptance in low-resource settings. We evaluated cell-free DNA (cfDNA) as a liquid biopsy tool and investigated its utility in breast cancer patients. METHODS: Total cell-free DNA was extracted from the plasma of breast cancer patients (n = 167) with a median follow-up of more than 5 years, at various stages of the disease...
February 7, 2023: Cancers
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JOURNAL ARTICLE
Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Débora R Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta M Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms...
February 13, 2023: American Journal of Medical Genetics. Part A
#30
Vijay Velagala, Dharsan K Soundarrajan, Maria F Unger, David Gazzo, Nilay Kumar, Jun Li, Jeremiah Zartman
BACKGROUND: G proteins mediate cell responses to various ligands and play key roles in organ development. Dysregulation of G-proteins or Ca 2+ signaling impacts many human diseases and results in birth defects. However, the downstream effectors of specific G proteins in developmental regulatory networks are still poorly understood. METHODS: We employed the Gal4/UAS binary system to inhibit or overexpress Gαq in the wing disc, followed by phenotypic analysis...
January 8, 2023: bioRxiv
#31
JOURNAL ARTICLE
Chitra Gopinath, Ramya Rompicherla, Grace Priyaranjini Mathias, Rajeshwari Patil, B Poornachandra, Anand Vinekar, Thirumalesh B Mochi, Sherine Braganza, K Bhujang Shetty, Govindasamy Kumaramanickavel, Anuprita Ghosh
PURPOSE: Recent advances in sequencing technologies have enabled radical and rapid progress in the genetic diagnosis of inherited retinal disorders (IRDs). Although the list of gene variations continues to grow, it lacks the genetic etiology of ethnic groups like South Asians. Differences in racial backgrounds and consanguinity add to genetic heterogeneity and phenotypic overlaps. METHODS: This retrospective study includes documented data from the Gen-Eye clinic from years 2014 to 2019...
January 17, 2023: Graefe's Archive for Clinical and Experimental Ophthalmology
#32
JOURNAL ARTICLE
Feng-Tao Liu, Jia-Ying Lu, Xin-Yi Li, Xiao-Niu Liang, Fang-Yang Jiao, Jing-Jie Ge, Ping Wu, Gen Li, Bo Shen, Bin Wu, Yi-Min Sun, Yu-Hua Zhu, Jian-Feng Luo, Tzu-Chen Yen, Jian-Jun Wu, Chuan-Tao Zuo, Jian Wang
PURPOSE: Human post mortem studies have described the topographical patterns of tau pathology in progressive supranuclear palsy (PSP). Recent advances in tau PET tracers are expected to herald the next era of PSP investigation for early detection of tau pathology in living brains. This study aimed to investigate whether 18 F-Florzolotau PET imaging may capture the distribution patterns and regional vulnerability of tau pathology in PSP, and to devise a novel image-based staging system...
January 11, 2023: European Journal of Nuclear Medicine and Molecular Imaging
#33
REVIEW
Changtian Pan, Gen Li, Anindya Bandyopadhyay, Yiping Qi
Next-generation sequencing technologies have revolutionized our ability to read sequence information at the genome and transcriptome levels in a high-throughput manner. However, genetic screening at a large or genomic scale remains challenging in plants. Recently, the RNA-guided CRISPR-Cas nucleases have been optimized for high-throughput functional genomic screens combined with guide RNA (gRNA) libraries in plants. This approach has shown great promise in facilitating genetic screening, directed evolution, and quantitative trait engineering...
January 3, 2023: Current Opinion in Biotechnology
#34
JOURNAL ARTICLE
A global snapshot of current opinions of next-generation sequencing technologies usage in forensics.
Megan M Foley, Fabio Oldoni
The future of forensic DNA testing is being shaped by the research and usage of next-generation systems, which have increased the multiplexing capabilities of the field and the type and amount of genetic data that can be utilized for investigations. The NGS adoption for casework has been slow, albeit the plethora of data that has been published. This study evaluated the current opinions on sequencing in forensics. A 20-question online-survey focusing on NGS knowledge, training, and usage was distributed to 6001 forensic DNA researchers and practitioners worldwide...
December 9, 2022: Forensic Science International. Genetics
#35
JOURNAL ARTICLE
Yi Dai, Kai Sheng, Lan Hu
OBJECTIVE: To examine the pathogen diagnostic performance of targeted high-throughput next-gen sequencing (tNGS) in respiratory infectious diseases in preterm infants using dynamic follow-up. METHODS: Clinical samples of respiratory secretions were consecutively collected from 20 preterm infants weekly for 5 weeks, during which 10 developed bronchopulmonary dysplasia. Pathogen identification from these collected specimens was performed by both conventional cultivation and tNGS...
2022: American Journal of Translational Research
#36
JOURNAL ARTICLE
Doaa O Salman, Rami Mahfouz, Elio R Bitar, Jinane Samaha, Pascale E Karam
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon. Patients are suspected, based on a combination of clinical and biochemical features; however, the final confirmation relies on genetic testing. Using next generation sequencing, as a new genetic investigational tool, carries several challenges for the physician, the geneticist, and the families. Methods: In this retrospective study, we analyzed the clinical, biochemical, and genetic profile of inborn errors of metabolism suspected patients, seen at a major tertiary care center in Lebanon, between 2015 and 2018...
2022: Frontiers in Genetics
#37
JOURNAL ARTICLE
Margaret Hammond, Ahmed Gamal, Pranab K Mukherjee, Giovanni Damiani, Thomas S McCormick, Mahmoud A Ghannoum, Susan Nedorost
Atopic dermatitis (AD) is associated with cutaneous dysbiosis, barrier defects, and immune dysregulation, but the interplay between these factors needs further study. Early-onset barrier dysfunction may facilitate an innate immune response to commensal organisms and, consequently, the development of allergic sensitization. We aimed to compare the cutaneous microbiome in patients with active dermatitis with and without a history of childhood flexural dermatitis (atopic dermatitis). Next-gen Ion-Torrent deep-sequencing identified AD-associated changes in the skin bacterial microbiome ("bacteriome") and fungal microbiome ("mycobiome") of affected skin in swabs from areas of skin affected by dermatitis...
2022: Frontiers in Microbiology
#38
JOURNAL ARTICLE
Shirong Zhang, Wenxian Wang, Chunwei Xu, Yongchang Zhang, Xiuyu Cai, Qian Wang, Zhengbo Song, Ziming Li, Jinpu Yu, Wenzhao Zhong, Zhijie Wang, Jingjing Liu, Anwen Liu, Wen Li, Ping Zhan, Hongbing Liu, Tangfeng Lv, Liyun Miao, Lingfeng Min, Gen Lin, Long Huang, Jingping Yuan, Zhansheng Jiang, Xingxiang Pu, Chuangzhou Rao, Dongqing Lv, Zongyang Yu, Xiaoyan Li, Chuanhao Tang, Chengzhi Zhou, Junping Zhang, Hui Guo, Qian Chu, Rui Meng, Xuewen Liu, Jingxun Wu, Jin Zhou, Zhengfei Zhu, Weiwei Pan, Xiaowei Dong, Fei Pang, Kai Wang, Chao Yao, Guomin Lin, Site Li, Zhi Yang, Jiancheng Luo, Hongtao Jia, Xiuqing Nie, Liping Wang, Youcai Zhu, Xiao Hu, Yanru Xie, Xinqing Lin, Jing Cai, Yang Xia, Huijing Feng, Lin Wang, Yingying Du, Wang Yao, Xuefei Shi, Xiaomin Niu, Dongmei Yuan, Yanwen Yao, Jing Kang, Jiatao Zhang, Chao Zhang, Wenbin Gao, Jianhui Huang, Yinbin Zhang, Pingli Sun, Hong Wang, Mingxiang Ye, Dong Wang, Zhaofeng Wang, Bing Wan, Donglai Lv, Genhua Yu, Lin Shi, Yuanli Xia, Feng Gao, Xiaochen Zhang, Tao Xu, Wei Zhou, Haixia Wang, Zhefeng Liu, Nong Yang, Lin Wu, Qiming Wang, Guansong Wang, Zhuan Hong, Jiandong Wang, Meiyu Fang, Yong Fang, Yiping Zhang, Yong Song, Shenglin Ma, Wenfeng Fang, Yuanzhi Lu
Human epidermal growth factor receptor 2 (HER2) possesses tyrosine kinase activity and participates in cell growth, differentiation and migration, and survival. Its alterations, mainly including mutations, amplifications, and overexpression are associated with poor prognosis and are one of the major drivers in non-small cell lung cancer (NSCLC). Several clinical trials had been investigating on the treatments of HER2-altered NSCLC, including conventional chemotherapy, programmed death 1 (PD-1) inhibitors, tyrosine kinase inhibitors (TKIs) and antibody-drug conjugates (ADCs), however, the results were either disappointing or encouraging, but inconsistent...
January 2023: Thoracic Cancer
#39
JOURNAL ARTICLE
Filiz Gurel, Yuechao Wu, Changtian Pan, Yanhao Cheng, Gen Li, Tao Zhang, Yiping Qi
The CRISPR-associated Cas12b system is the third most efficient CRISPR tool for targeted genome editing in plants after Cas9 and Cas12a. Although the genome editing ability of AaCas12b has been previously investigated in rice, its off-target effects in plants are largely not known. In this study, we first engineered single-guide RNA (sgRNA) complexes with various RNA scaffolds to enhance editing frequency. We targeted EPIDERMAL PATTERNING FACTOR LIKE 9 ( OsEPFL9) and GRAIN SIZE 3 ( OsGS3) genes with GTTG and ATTC protospacer adjacent motifs, respectively...
November 4, 2022: CRISPR Journal
#40
JOURNAL ARTICLE
Antonio M Puppo Moreno, Nereida Bravo-Gil, Cristina Méndez-Vidal, Alejandro Adsuar Gómez, F Tadeo Gómez Ruiz, Carlos Jiménez De Juan, Raquel M Fernández García, Rafael Martín Bermúdez, José María López Sánchez, Sara Martín Sastre, Manuel Fernández Caro, Pastora Gallego, Salud Borrego
INTRODUCTION AND OBJECTIVES: Genetic testing is becoming increasingly important for diagnosis and personalized treatments in aortopathies. Here, we aimed to genetically diagnose a group of acute aortic syndrome (AAS) patients consecutively admitted to an intensive care unit and to explore the clinical usefulness of AAS-associated variants during treatment decision-making and family traceability. METHODS: We applied targeted next-generation sequencing, covering 42 aortic diseases genes in AAS patients with no signs consistent with syndromic conditions...
June 2023: Revista Española de Cardiología
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