keyword
https://read.qxmd.com/read/38493502/the-potential-of-the-proteome-to-predict-fracture
#1
EDITORIAL
Ryan C Chai, Robert D Blank
No abstract text is available yet for this article.
March 16, 2024: Journal of Bone and Mineral Research
https://read.qxmd.com/read/38493444/integrative-regulation-of-hlmr1-by-dietary-and-genetic-factors-in-nonalcoholic-fatty-liver-disease-and-hyperlipidemia
#2
JOURNAL ARTICLE
Marcos E Jaso-Vera, Shohei Takaoka, Ishika Patel, Xiangbo Ruan
Long non-coding RNA (lncRNA) genes represent a large class of transcripts that are widely expressed across species. As most human lncRNAs are non-conserved, we recently employed a unique humanized liver mouse model to study lncRNAs expressed in human livers. We identified a human hepatocyte-specific lncRNA, hLMR1 (human lncRNA metabolic regulator 1), which is induced by feeding and promotes hepatic cholesterol synthesis. Recent genome-wide association studies (GWAS) found that several single-nucleotide polymorphisms (SNPs) from the hLMR1 gene locus are associated with blood lipids and markers of liver damage...
March 17, 2024: Human Genetics
https://read.qxmd.com/read/38493363/copy-number-variant-risk-loci-for-schizophrenia-converge-on-the-bdnf-pathway
#3
JOURNAL ARTICLE
Friederike Ehrhart, Ana Silva, Therese van Amelsvoort, Emma vonScheibler, Chris Evelo, David E J Linden
Objectives: Schizophrenia genetics is complex, and the contribution of common and rare variants are not fully understood. Several specific copy number variations (CNVs) confer increased risk, and the study of their effects is central to molecular models of mental disorders. However, these CNVs are spread across the genome and differ in the number of genes affected and classes of coded proteins. This diversity suggests that we need to look beyond the deleted or duplicated genes, to their interaction partners and involved molecular pathways...
March 17, 2024: World Journal of Biological Psychiatry
https://read.qxmd.com/read/38493358/a-loss-of-function-mutation-in-cldn25-causing-pelizaeus-merzbacher-like-leukodystrophy
#4
JOURNAL ARTICLE
Yosuke Hashimoto, Claude Besmond, Nathalie Boddaert, Arnold Munnich, Matthew Campbell
Claudin-25 (CLDN-25), also known as Claudin containing domain 1, is an uncharacterized claudin family member. It has less conserved amino acid sequences when compared to other claudins. It also has a very broad tissue expression profile and there is currently a lack of functional information from murine knockout models. Here, we report a de novo missense heterozygous variant in CLDN25 (c. 745G>C, p. A249P) found in a patient diagnosed with Pelizaeus-Merzbacher-like leukodystrophy and presenting with symptoms such as delayed motor development, several episodes of tonic absent seizures and generalized dystonia...
March 17, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38493342/scencore-leveraging-single-cell-epigenetic-data-to-predict-chromatin-conformation-using-graph-embedding
#5
JOURNAL ARTICLE
Ziheng Duan, Siwei Xu, Shushrruth Sai Srinivasan, Ahyeon Hwang, Che Yu Lee, Feng Yue, Mark Gerstein, Yu Luan, Matthew Girgenti, Jing Zhang
Dynamic compartmentalization of eukaryotic DNA into active and repressed states enables diverse transcriptional programs to arise from a single genetic blueprint, whereas its dysregulation can be strongly linked to a broad spectrum of diseases. While single-cell Hi-C experiments allow for chromosome conformation profiling across many cells, they are still expensive and not widely available for most labs. Here, we propose an alternate approach, scENCORE, to computationally reconstruct chromatin compartments from the more affordable and widely accessible single-cell epigenetic data...
January 22, 2024: Briefings in Bioinformatics
https://read.qxmd.com/read/38493200/application-of-droplet-digital-pcr-in-minimal-residual-disease-monitoring-of-rare-fusion-transcripts-and-mutations-in-haematological-malignancies
#6
JOURNAL ARTICLE
Beca B K Ip, Anthony T C Wong, Janet Hei Yin Law, Chun Hang Au, Shing Yan Ma, James C S Chim, Raymond H S Liang, Anskar Y H Leung, Thomas S K Wan, Edmond S K Ma
Leukaemia of various subtypes are driven by distinct chromosomal rearrangement or genetic abnormalities. The leukaemogenic fusion transcripts or genetic mutations serve as molecular markers for minimal residual disease (MRD) monitoring. The current study evaluated the applicability of several droplet digital PCR assays for the detection of these targets at RNA and DNA levels (atypical BCR::ABL1 e19a2, e23a2ins52, e13a2ins74, rare types of CBFB::MYH11 (G and I), PCM1::JAK2, KMT2A::ELL2, PICALM::MLLT10 fusion transcripts and CEBPA frame-shift and insertion/duplication mutations) with high sensitivity...
March 16, 2024: Scientific Reports
https://read.qxmd.com/read/38493154/integrative-cross-omics-and-cross-context-analysis-elucidates-molecular-links-underlying-genetic-effects-on-complex-traits
#7
JOURNAL ARTICLE
Yihao Lu, Meritxell Oliva, Brandon L Pierce, Jin Liu, Lin S Chen
Genetic effects on functionally related 'omic' traits often co-occur in relevant cellular contexts, such as tissues. Motivated by the multi-tissue methylation quantitative trait loci (mQTLs) and expression QTLs (eQTLs) analysis, we propose X-ING (Cross-INtegrative Genomics) for cross-omics and cross-context integrative analysis. X-ING takes as input multiple matrices of association statistics, each obtained from different omics data types across multiple cellular contexts. It models the latent binary association status of each statistic, captures the major association patterns among omics data types and contexts, and outputs the posterior mean and probability for each input statistic...
March 16, 2024: Nature Communications
https://read.qxmd.com/read/38493143/low-intensity-pulsed-ultrasound-delays-the-progression-of-osteoarthritis-by-regulating-the-yap-ripk1-nf-%C3%AE%C2%BAb-axis-and-influencing-autophagy
#8
JOURNAL ARTICLE
Chunran Pan, Fan Lu, Xiaoxia Hao, Xiaofeng Deng, Jiawei Liu, Kai Sun, Wenjie Hou, Xingru Shang, Ruimin Chi, Fengjing Guo, Tao Xu
BACKGROUND: Osteoarthritis (OA) is a degenerative disease characterized by chronic inflammation of the joint. As the disease progresses, patients will gradually develop symptoms such as pain, physical limitations and even disability. The risk factors for OA include genetics, gender, trauma, obesity, and age. Unfortunately, due to limited understanding of its pathological mechanism, there are currently no effective drugs or treatments to suspend the progression of osteoarthritis. In recent years, some studies found that low-intensity pulsed ultrasound (LIPUS) may have a positive effect on osteoarthritis...
March 16, 2024: Journal of Translational Medicine
https://read.qxmd.com/read/38493096/aberrant-sox10-and-ret-expressions-in-patients-with-hirschsprung-disease
#9
JOURNAL ARTICLE
Gunadi, Verrell Christopher Amadeus, Fadila Dyah Trie Utami, Fiqih Vidiantoro Halim, Nabilah Anisa Novebri, Rahaditya Alrasyidi Hanggoro, Avinindita Nura Lestari, Kristy Iskandar, Andi Dwihantoro, Eko Purnomo
BACKGROUND: HSCR is a complex genetic disorder characterized by the absence of ganglion cells in the intestine, leading to a functional obstruction. It is due to a disruption of complex signaling pathways within the gene regulatory network (GRN) during the development of the enteric nervous system (ENS), including SRY-Box Transcription Factor 10 (SOX10) and REarranged during Transfection (RET). This study evaluated the expressions of SOX10 and RET in HSCR patients in Indonesia. METHODS: Total RNA of 19 HSCR ganglionic and aganglionic colons and 16 control colons were analyzed using quantitative real-time polymerase chain reaction for SOX10 and RET with GAPDH as the reference gene...
March 16, 2024: BMC Pediatrics
https://read.qxmd.com/read/38493067/feasibility-of-next-generation-sequencing-of-liquid-biopsy-circulating-tumor-dna-samples-and-tumor-tissue-from-patients-with-metastatic-prostate-cancer-in-a-real-world-clinical-setting-in-germany
#10
JOURNAL ARTICLE
Philipp Mandel, Benedikt Hoeh, Clara Humke, Claudia Doering, Mike Wenzel, Cristina Cano Garcia, Nina Fuhr, Florestan Koll, Anne Fassl, Derya Tilki, Thomas Steuber, Iris Faull, Jan Jeroch, Silvana Ebner, Christina Schmitt, Henning Reis, Jens Köllermann, Konstantinos D Kokkaliaris, Melanie C Demes, Felix K H Chun, Peter J Wild
BACKGROUND AND OBJECTIVE: With European Medicines Agency approval of PARP inhibitors in metastatic castration-resistant prostate cancer and ongoing trials in metastatic hormone-sensitive prostate cancer, detection of genetic alterations in BRCA1/2 and other homologous recombination repair genes has gained an important role. Our aim was to investigate the feasibility and comparability of comprehensive next-generation sequencing (NGS) of liquid biopsy (LB; circulating tumor DNA) and tumor tissue (TT) samples in a real-world clinical setting...
March 15, 2024: European Urology Focus
https://read.qxmd.com/read/38493058/neuroprotective-effects-of-niclosamide-on-disease-progression-via-inflammatory-pathways-modulation-in-sod1-g93a-and-fus-associated-amyotrophic-lateral-sclerosis-models
#11
JOURNAL ARTICLE
Martina Milani, Ilaria Della Valle, Simona Rossi, Paola Fabbrizio, Cassandra Margotta, Giovanni Nardo, Mauro Cozzolino, Nadia D'Ambrosi, Savina Apolloni
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease influenced by genetic, epigenetic, and environmental factors, resulting in dysfunction in cellular and molecular pathways. The limited efficacy of current treatments highlights the need for combination therapies targeting multiple aspects of the disease. Niclosamide, an anthelminthic drug listed as an essential medicine, has been repurposed in clinical trials for different diseases due to its anti-inflammatory and anti-fibrotic properties...
March 15, 2024: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://read.qxmd.com/read/38493052/association-of-sociodemographic-and-clinical-factors-with-the-quality-of-life-of-brazilian-individuals-with-neurofibromatosis-type-1-a-cross-sectional-study
#12
JOURNAL ARTICLE
Natália Parenti Bicudo, Carla Maria Ramos Germano, Roberta Teixeira de Moraes, Lucimar Retto da Silva de Avó, Rosalie E Ferner, Débora Gusmão Melo
BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare genetic disorder with a wide range of clinical manifestations, notably neurocutaneous features, that can lead to emotional and physical consequences. OBJECTIVES: This study assessed the influence of sociodemographic factors and clinical features of the disease on the quality of life of Brazilian individuals with NF1. METHODS: This is a descriptive cross-sectional study. Data were collected from 101 individuals with NF1 using the Brazilian version of the Impact of NF1 on Quality of Life Questionnaire (INF1-QoL), a form with information on sociodemographic characteristics, and an NF1 visibility self-evaluation scale...
March 16, 2024: Anais Brasileiros de Dermatologia
https://read.qxmd.com/read/38493042/metabolic-etiologies-in-children-with-infantile-epileptic-spasm-syndrome-experience-at-a-tertiary-pediatric-neurology-center
#13
JOURNAL ARTICLE
Merve Feyza Yüksel, Neslihan Doğulu, Miraç Yıldırım, Engin Köse, Ömer Bektaş, Fatma Tuba Eminoğlu, Serap Teber
OBJECTIVE: Infantile epileptic spasm syndrome (IESS), including West syndrome (WS) and infantile spasm (IS), causes a challenging prognosis, particularly when associated with metabolic etiologies. METHODS: This study, conducted at a tertiary pediatric neurology center, explored the prevalence and clinical features of inborn errors of metabolism in 112 children with IESS over 10 years. RESULTS: Most patients presented with seizures, primarily flexor spasms, and the median age at onset was 5 months...
March 16, 2024: Brain & Development
https://read.qxmd.com/read/38493020/mainstreaming-in-parallel-with-ovarian-cancer-tumor-testing-to-improve-genetic-testing-uptake
#14
JOURNAL ARTICLE
Maureen Byrne, Tiffany Y Sia, Christopher Fong, Aliya Khurram, Michele Waters, Yelena M Kemel, Qin Zhou, Megha Ranganathan, Kara Long Roche, Dennis S Chi, Sally Saban, Michelle Wu, Nancy Varice, Jada G Hamilton, Jian Carrot-Zhang, Nadeem R Abu-Rustum, Alexia Iasonos, Lora H Ellenson, Diana Mandelker, Britta Weigelt, Carol L Brown, Carol Aghajanian, Zsofia Stadler, Ying L Liu
OBJECTIVES: Although genetic testing (GT) is universally recommended for patients with epithelial ovarian cancer (EOC), rates are low (34%). In 1/2019, we implemented mainstreaming-GT in parallel with tumor testing via MSK-IMPACT within oncology clinics. We sought to determine GT rates pre/post-mainstreaming and patient characteristics associated with GT. METHODS: Patients with newly diagnosed EOC seen at our institution from 7/1/2015-3/31/2022 were included. Clinical data were abstracted including social determinants of health (SDOH) variables, race/ethnicity, marital status, insurance, language, comorbidities, employment, and Yost index, a measure of socioeconomic status...
March 14, 2024: Gynecologic Oncology
https://read.qxmd.com/read/38492779/comparative-genomics-analysis-reveals-sequence-characteristics-potentially-related-to-host-preference-in-cryptosporidium-xiaoi
#15
JOURNAL ARTICLE
Jiayu Li, Yingying Fan, Na Li, Yaqiong Guo, Weijian Wang, Kangli Feng, Wei He, Falei Li, Jianbo Huang, Yanhua Xu, Lihua Xiao, Yaoyu Feng
Cryptosporidium spp. are important diarrhea-associated pathogens in humans and livestock. Among the known species, Cryptosporidium xiaoi, which causes cryptosporidiosis in sheep and goats, was previously recognized as a genotype of the bovine-specific Cryptosporidium bovis based on their high sequence identity in the ssrRNA gene. However, the lack of genomic data has limited characterization of the genetic differences between the two closely related species. In this study, we sequenced the genomes of two C...
March 14, 2024: International Journal for Parasitology
https://read.qxmd.com/read/38492747/air-pollution-apoe-genotype-and-risk-of-dementia-among-individuals-with-cardiovascular-diseases-a-population-based-longitudinal-study
#16
JOURNAL ARTICLE
Fei Tian, Zhengmin Qian, Zilong Zhang, Yuewei Liu, Gan Wu, Chongjian Wang, Stephen Edward McMillin, Elizabeth Bingheim, Hualiang Lin
Individuals with cardiovascular disease (CVD) are particularly vulnerable to dementia, but it remains unclear whether air pollution exposure links with higher risk of dementia among those with CVD. The data were derived from the UK Biobank study (UKB). Dementia-free participants with CVD at baseline were included. Air pollution exposure was assessed through land use regression models, including particulate matter (PM2.5 , PM2.5-10 , and PM10 ), nitrogen dioxide (NO2 ), and nitrogen oxides (NOX ). A Cox proportional hazards model was used to investigate the associations between air pollution exposure and incident dementia among individuals with CVD...
March 14, 2024: Environmental Pollution
https://read.qxmd.com/read/38492611/genetic-features-of-patients-with-mps-type-iiib-description-of-five-pathogenic-gene-variations
#17
JOURNAL ARTICLE
Mahzad Nasir Shalal, Majid Aminzadeh, Alihossein Saberi, Reza Azizi Malmiri, Reza Aminzadeh, Pegah Ghandil
BACKGROUND: There are four distinct forms of Sanfilippo syndrome (MPS type III), each of which is an autosomal lysosomal storage disorder. These forms are caused by abnormalities in one of four lysosomal enzymes. This study aimed to identify possible genetic variants that contribute to Sanfilippo IIIB in 14 independent families in Southwest Iran. METHODS: Patients were included if their clinical features and enzyme assay results were suggestive. The patients were subsequently subjected to Sanger Sequencing to screen for Sanfilippo-related genes...
March 14, 2024: Gene
https://read.qxmd.com/read/38492543/utilizing-rna-sequencing-to-identify-gene-expression-markers-of-stroke-causing-thrombi-origin-a-pilot-study
#18
JOURNAL ARTICLE
Kunakorn Atchaneeyasakul, Karen E Bates, Alyssa Toledo, Anthony J Griswold, Kevin Ramdas, Mitsuyoshi Watanabe, Meghana Shownkeen, Luis Guada, Dileep Yavagal
INTRODUCTION: Stroke embolic source have an unknown origin in 30-40% of cases. Mechanical thrombectomy for acute large vessel occlusion stroke has provided us with a method to directly retrieve the thrombi from patients for analysis. By collecting stroke-causing thrombi from known sources, we can then use high-throughput RNA sequencing (RNAseq) technology to directly measure the gene expression signatures of these clots. This may allow us to identify genetic markers to predict the cause of cryptogenic embolism...
March 15, 2024: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://read.qxmd.com/read/38492328/epidemiological-characterization-and-risk-factors-of-rhinitis-and-rhinoconjunctivitis-among-preschool-children-in-shanghai-china
#19
JOURNAL ARTICLE
Jie Ren, Chengdong Wang, Pingbo Zhang, Jing Xu, Yixiao Bao
BACKGROUND: Previous studies have reported an increasing prevalence of childhood allergic rhinitis in developing countries. There is still a lack of the recent epidemiology of allergic rhinitis among Chinese preschool children. Therefore, this study explored the prevalence of rhinitis symptoms and identified their associations with potential risk factors among children at the age of 3-6 in Shanghai, China. METHODS: Validated International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire was adopted to collect information about rhinitis symptoms and potential risk factors...
March 1, 2024: International Journal of Pediatric Otorhinolaryngology
https://read.qxmd.com/read/38492257/hereditary-hemorrhagic-telangiectasia-diagnosis-a-case-report
#20
JOURNAL ARTICLE
Lynne Sekarski, Andrew J White, Katheryne Tifuh Amba
This case report presents a 13-year-old patient with a lung nodule identified on a chest radiograph in the emergency department during an evaluation of knee and side pain after a fall. The patient had nosebleeds, family history of hereditary hemorrhagic telangiectasia (HHT) and after chest computed tomography with angiography, the nodule was defined as a single pulmonary arteriovenous malformation (PAVM). Neither parent nor patient had been evaluated for HHT, an autosomal dominant disease, despite the family history...
March 15, 2024: Journal of Pediatric Nursing
keyword
keyword
42572
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.