keyword
https://read.qxmd.com/read/38492250/new-insights-into-the-genetic-loci-related-to-egg-weight-and-age-at-first-egg-traits-in-broiler-breeder
#21
JOURNAL ARTICLE
Xiaochun Ma, Fan Ying, Zhengda Li, Lu Bai, Mengjie Wang, Dan Zhu, Dawei Liu, Jie Wen, Guiping Zhao, Ranran Liu
Egg weight (EW) and age at first egg (AFE) are economically important traits in breeder chicken production. The genetic basis of these traits, however, is far from understood, especially for broiler breeders. In this study, genetic parameter estimation, genome-wide association analysis, meta-analysis, and selective sweep analysis were carried out to identify genetic loci associated with EW and AFE in 6,842 broiler breeders. The study found that the heritability of EW ranged from 0.42 to 0.44, while the heritability of AFE was estimated at 0...
March 5, 2024: Poultry Science
https://read.qxmd.com/read/38492214/enterolith-with-a-bonefish-spine-nidus-in-a-brazilian-cownose-ray-rhinoptera-brasiliensis-m%C3%A3-ller-henle-myliobatiformes-rhinopteridae
#22
JOURNAL ARTICLE
L O Camilo, B L Maganhe, H Gallo Neto, E G Sanches
An adult female Brazilian cownose ray (Rhinoptera brasiliensis), housed in Ubatuba Aquarium died after loss of appetite period. During necropsy, an enterolith was discovered partially obstructing the intestinal lumen. Examination of the enterolith revealed a bonefish spine nidus. Enterolithiasis has been linked to multiple factors including diet, genetics, alkaline intestinal environments and, as in this particular case, the ingestion and retention of foreign bodies. The composition of this enterolith from a cownose ray was primarily monohydrocalcite...
March 16, 2024: Journal of Fish Diseases
https://read.qxmd.com/read/38492200/evaluation-of-the-pathogenic-potential-of-germline-ddx41-variants-in-hematopoietic-neoplasms-using-the-acmg-amp-guidelines
#23
JOURNAL ARTICLE
Hirotaka Matsui, Makoto Hirata
Clinical use of gene panel testing for hematopoietic neoplasms in areas, such as diagnosis, prognosis prediction, and exploration of treatment options, has increased in recent years. The keys to interpreting gene variants detected in gene panel testing are to distinguish between germline and somatic variants and accurately determine whether the detected variants are pathogenic. If a variant is suspected to be a pathogenic germline variant, it is essential to confirm its consistency with the disease phenotype and gather a thorough family history...
March 16, 2024: International Journal of Hematology
https://read.qxmd.com/read/38492167/epidemiology-diagnosis-and-genetics-of-retinoblastoma-icmr-consensus-guidelines
#24
REVIEW
Lata Singh, Girish Chinnaswamy, Rachna Meel, Venkatraman Radhakrishnan, Renu Madan, Suyash Kulkarni, Archana Sasi, Tanvir Kaur, R S Dhaliwal, Sameer Bakhshi
Retinoblastoma (RB) is the most common intraocular tumor in childhood. It is mainly caused by mutations in both alleles of the RB1 tumor suppressor gene that is found on chromosome 13 and regulates the cell cycle. Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. The survival rate of RB has improved to more than 90% in the developed world. Leukocoria and proptosis are the most common presenting features of RB in Asian Indian populations. Most cases of RB are diagnosed by fundus examination followed by ultrasound...
March 16, 2024: Indian Journal of Pediatrics
https://read.qxmd.com/read/38492148/jak-stat-signaling-and-beyond-in-the-pathogenesis-of-spondyloarthritis-and-their-clinical-significance
#25
REVIEW
Siba P Raychaudhuri, Ruchi J Shah, Sneha Banerjee, Smriti K Raychaudhuri
PURPOSE OF REVIEW: Janus kinase-signal transducers and activators of transcription cell signaling proteins (JAK-STATs) play a key regulatory role in functioning of several inflammatory cytokines. JAK-STAT signaling proteins are the key regulators of the cytokine/cytokine receptor system involved in the pathogenesis of various autoimmune disease including spondyloarthritis (SpA). This article mainly highlights the JAK-STAT signaling system, its association with the relevant cytokine/cytokine-receptor system, and its regulatory role in pathogenesis of SpA...
March 16, 2024: Current Rheumatology Reports
https://read.qxmd.com/read/38492089/advances-in-epigenetic-alterations-of-chronic-lymphocytic-leukemia-from-pathogenesis-to-treatment
#26
REVIEW
Xin Zhang, Hua Wang, Ya Zhang, Xin Wang
Chronic lymphocytic leukemia (CLL) is a heterogeneous disease with alterations in genetic expression and epigenetic modifications. In recent years, the new insight into epigenetics in the pathogenesis of CLL has been developed considerably, including DNA methylation, histone modification, RNA methylation, non-coding RNAs as well as chromatin remodeling. Epigenetic modification regulates various processes such as stem cell biology, cell growth, and tumorigenesis without altering gene sequence. Growing evidence indicates that the disturbance of gene expression profiles which were regulated by epigenetic modifications exerts vital roles in the development and progress in CLL, which provides novel perspectives to explore the etiology of CLL...
March 16, 2024: Clinical and Experimental Medicine
https://read.qxmd.com/read/38492051/association-between-psychiatric-admissions-in-patients-with-schizophrenia-and-il-6-plasma-levels-polygenic-score
#27
JOURNAL ARTICLE
Fernando Facal, Manuel Arrojo, Mario Páramo, Javier Costas
Schizophrenia diagnosis and admission history were associated with a polygenic score (PGS) for schizophrenia based on a subset of variants that act by modifying the expression of genes whose expression is also modified by antipsychotics. This gene set was enriched in cytokine production. Interleukin-6 (IL-6) is the only cytokine whose plasma levels were associated both with schizophrenia diagnosis and with acute decompensations in the largest meta-analysis. Therefore, we hypothesized that an IL-6 PGS, but not other cytokines PGSs, would be associated with schizophrenia chronicity/psychiatric admissions...
March 16, 2024: European Archives of Psychiatry and Clinical Neuroscience
https://read.qxmd.com/read/38492036/molecular-mechanisms-and-therapeutic-application-of-extracellular-vesicles-from-plants
#28
REVIEW
Fatemeh Azizi, Salva Kazemipour-Khabbazi, Stefania Raimondo, Razieh Dalirfardouei
Small extracellular vesicles (sEVs) isolated from animal sources are among the most investigated types of cell-free therapeutic tools to cure different diseases. sEVs have been isolated from a variety of sources, ranging from prokaryotes to animals and plants. Human-derived sEVs have many uses in pre- and clinical studies in medicine and drug delivery, while plant-derived EVs, also known as plant-derived nanovesicles (PDNVs), have not been widely investigated until the second decade of the 21st century. For the past five years, there has been a rapid rise in the use of plant EVs as a therapeutic tool due to the ease of massive production with high efficacy and yield of preparation...
March 16, 2024: Molecular Biology Reports
https://read.qxmd.com/read/38491971/the-association-of-circulating-lipoprotein-lipids-and-apolipoproteins-with-risk-of-endometriosis-a-mendelian-randomization-study
#29
JOURNAL ARTICLE
Xiwen He, Shengyu Xie, Yi Liu
BACKGROUND: Endometriosis is a poorly understood disease that affects up to 196 million women worldwide and imposes high costs in terms of economic burden and quality of life of women. Traits of circulating lipids have been related to the onset and progression of endometriosis in previous observational studies but the results have remained contradictory. METHODS: We performed univariable and multivariable Mendelian randomization (MR) analyses using instrument variables to genetically predict the associations of low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol, triglycerides, and apolipoprotein (apo) A-I and B from the UK Biobank with endometriosis (consisting of 8288 cases and 68 969 controls from the FinnGen consortium)...
March 16, 2024: Postgraduate Medical Journal
https://read.qxmd.com/read/38491959/clinical-and-molecular-characterization-of-patients-with-ywhag-related-epilepsy
#30
JOURNAL ARTICLE
Valentina Cetica, Tiziana Pisano, Gaetan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi, Davide Mei, Hon-Yin B Chung, Allan Bayat, Meena Balasubramanian, Daniel H Lowenstein, Milda Endzinienė, Maha Alotaibi, Nathalie Villeneuve, Julia Jacobs, Bertrand Isidor, Roberta Solazzi, Nicolette S den Hollander, Dragan Marjanovic, Christelle Rougeot-Jung, Julien Jung, Marion Lesieur-Sebellin, Andrea Accogli, Vincenzo Salpietro, Nebal W Saadi, Eleni Panagiotakaki, Thomas Foiadelli, Sylvia Redon, Meng-Han Tsai, Francesca Bisulli, Trine B Hammer, James R Lupski, Elena Parrini, Renzo Guerrini
OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. METHODS: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG...
March 16, 2024: Epilepsia
https://read.qxmd.com/read/38491858/dietary-restriction-fails-to-extend-lifespan-of-drosophila-model-of-werner-syndrome
#31
JOURNAL ARTICLE
Eileen Sember, Ranga Chennakesavula, Breanna Beard, Mubaraq Opoola, Dae-Sung Hwangbo
Werner syndrome (WS) is a rare genetic disease in humans, caused by mutations in the WRN gene that encodes a protein containing helicase and exonuclease domains. WS is characterized by symptoms of accelerated aging in multiple tissues and organs, involving increased risk of cancer, heart failure, and metabolic dysfunction. These conditions ultimately lead to the premature mortality of patients with WS. In this study, using the null mutant flies (WRNexoΔ) for the gene WRNexo (CG7670), homologous to the exonuclease domain of WRN in humans, we examined how diets affect the lifespan, stress resistance, and sleep/wake patterns of a Drosophila model of WS...
March 16, 2024: G3: Genes—Genomes—Genetics
https://read.qxmd.com/read/38491845/epigenetic-control-of-microglial-immune-responses
#32
REVIEW
Rebekka Scholz, Desirée Brösamle, Xidi Yuan, Marc Beyer, Jonas J Neher
Microglia, the major population of brain-resident macrophages, are now recognized as a heterogeneous population comprising several cell subtypes with different (so far mostly supposed) functions in health and disease. A number of studies have performed molecular characterization of these different microglial activation states over the last years making use of "omics" technologies, that is transcriptomics, proteomics and, less frequently, epigenomics profiling. These approaches offer the possibility to identify disease mechanisms, discover novel diagnostic biomarkers, and develop new therapeutic strategies...
March 16, 2024: Immunological Reviews
https://read.qxmd.com/read/38491841/luxenburger-s-1939-essay-on-schizophrenia-and-its-hereditary-circle
#33
JOURNAL ARTICLE
Kenneth S Kendler, Astrid Klee
In 1939, Hans Luxenburger published a detailed overview of the current status of schizophrenia genetics research, reaching six major conclusions. First, schizophrenia is clearly a hereditary disease. Second, however, schizophrenia is not the hereditary trait itself but rather the consequences of a slowly developing biological progress, the nature of which remains entirely unknown. Third, the full manifestation of the disorder requires certain environmental influences that must come into play. In around 30% of cases, the environment can inhibit hereditary factors so that the predisposition does not manifest in schizophrenia...
March 16, 2024: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://read.qxmd.com/read/38491801/construction-of-a-prognostic-model-for-breast-cancer-based-on-moonlighting-genes
#34
JOURNAL ARTICLE
Ming Zhang, Dejie Zhang, Qicai Wang, Guoliang Lin
Breast cancer (BRCA) is a highly heterogeneous disease, with significant differences in prognosis among patients. Existing biomarkers and prognostic models have limited ability to predict BRCA prognosis. Moonlighting genes regulate tumor progression and are associated with cancer prognosis. This study aimed to construct a moonlighting gene-based prognostic model for BRCA. We obtained differentially expressed genes (DEGs) in BRCA from The Cancer Genome Atlas and intersected them with moonlighting genes from MoonProt to acquire differential moonlighting genes...
March 16, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38491791/the-importance-of-an-occupational-history-chronic-kidney-disease-vs-chronic-kidney-disease-of-non-traditional-etiology
#35
JOURNAL ARTICLE
Daniel J Smith
No abstract text is available yet for this article.
March 16, 2024: Workplace Health & Safety
https://read.qxmd.com/read/38491750/editor-spotlight-interview-with-cholinergic-mechanisms-special-issue-guest-editor-hermona-soreq
#36
EDITORIAL
Kim H Kwan, Hermona Soreq
Hermona Soreq holds a Hebrew University Slesinger Chair in Molecular Neuroscience and is among the founding members of the Edmond and Lily Safra Center of Brain Sciences (ELSC). Soreq's research (H-impact: 98) focuses on acetylcholine (ACh)-related pathways and combines RNA-sequencing technologies, transgenic engineering, and molecular biology tests with in-depth analysis approaches. Her work addresses microRNAs (miRs) and transfer RNA fragments (tRFs) which have rapidly acquired wide recognition as global controllers of regulatory processes in healthy and diseased brain and body, including anxiety, inflammation, and cognition...
March 15, 2024: Journal of Neurochemistry
https://read.qxmd.com/read/38491747/alzheimer-s-disease-and-clinical-trials
#37
REVIEW
Deepraj Paul, Rohini Agrawal, Swati Singh
Alzheimer's disease (AD) is spreading its root disproportionately among the worldwide population. Many genes have been identified as the hallmarks of AD. Based upon the knowledge, many clinical trials have been designed and conducted. Attempts have been made to alleviate the pathology associated with AD by targeting the molecular products of these genes. Irrespective of the understanding on the genetic component of AD, many clinical trials have failed and imposed greater challenges on the path of drug discovery...
March 18, 2024: Journal of Basic and Clinical Physiology and Pharmacology
https://read.qxmd.com/read/38491513/identification-of-mir-20b-5p-as-an-inhibitory-regulator-in-cardiac-differentiation-via-tet2-and-dna-hydroxymethylation
#38
JOURNAL ARTICLE
Ke-Xin Li, Jia-Ru Li, Sheng-Jia Zuo, Xudong Li, Xian-Tong Chen, Pei-Yi Xiao, Hui-Tao Li, Ling Sun, Tao Qian, Hao-Min Zhang, Dongxing Zhu, Xi-Yong Yu, Guojun Chen, Xue-Yan Jiang
BACKGROUND: Congenital heart disease (CHD) is a prevalent congenital cardiac malformation, which lacks effective early biological diagnosis and intervention. MicroRNAs, as epigenetic regulators of cardiac development, provide potential biomarkers for the diagnosis and treatment of CHD. However, the mechanisms underlying miRNAs-mediated regulation of cardiac development and CHD malformation remain to be further elucidated. This study aimed to explore the function of microRNA-20b-5p (miR-20b-5p) in cardiac development and CHD pathogenesis...
March 15, 2024: Clinical Epigenetics
https://read.qxmd.com/read/38491477/o-glcnacylation-a-pro-survival-response-to-acute-stress-in-the-cardiovascular-and-central-nervous-systems
#39
REVIEW
Qiu Xue, Shengtao Ji, Hui Xu, Shu Yu
O-GlcNAcylation is a unique monosaccharide modification that is ubiquitously present in numerous nucleoplasmic and mitochondrial proteins. The hexosamine biosynthesis pathway (HBP), which is a key branch of glycolysis, provides the unique sugar donor UDP-GlcNAc for the O-GlcNAc modification. Thus, HBP/O-GlcNAcylation can act as a nutrient sensor to perceive changes in nutrient levels and trigger O-GlcNAc modifications of functional proteins in cellular (patho-)physiology, thereby regulating diverse metabolic processes...
March 16, 2024: European Journal of Medical Research
https://read.qxmd.com/read/38491466/causal-relationship-between-dietary-salt-intake-and-dementia-risk-mendelian-randomization-study
#40
JOURNAL ARTICLE
Ke Shi, Yongbo Yu, Zhaolin Li, Miaomiao Hou, Xinyi Li
OBJECTIVE: Observational research has indicated a potential link between dietary salt intake and susceptibility to dementia. However, it is important to note that these types of studies are prone to the issues of reverse causation and residual confounding. Therefore, we conducted a two-sample Mendelian randomization (MR) study to explore the causality. METHOD: To explore the causal relationship between them, this Mendelian randomization (MR) study incorporated summary statistics of dietary salt intake and dementia...
March 15, 2024: Genes & Nutrition
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