keyword
https://read.qxmd.com/read/38298611/genetic-outcomes-in-children-with-developmental-language-disorder-a-systematic-review
#1
REVIEW
Vivian van Wijngaarden, Hester de Wilde, Dieuwke Mink van der Molen, Jildo Petter, Inge Stegeman, Ellen Gerrits, Adriana L Smit, Marie-José van den Boogaard
INTRODUCTION: Developmental language disorder (DLD) is a common childhood condition negatively influencing communication and psychosocial development. An increasing number of pathogenic variants or chromosomal anomalies possibly related to DLD have been identified. To provide a base for accurate clinical genetic diagnostic work-up for DLD patients, understanding the specific genetic background is crucial. This study aims to give a systematic literature overview of pathogenic variants or chromosomal anomalies causative for DLD in children...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38173016/extracellular-vesicle-derived-tp53bp1-cd34-and-pbx1-from-human-peripheral-blood-serve-as-potential-biomarkers-for-the-assessment-and-prediction-of-vascular-aging
#2
JOURNAL ARTICLE
Yichao Wen, Haiyang Chen, Yu Wang, Yiqing Sun, Fangfang Dou, Xiling Du, Te Liu, Chuan Chen
BACKGROUND: Vascular aging is an important pathophysiological basis for the senescence of various organs and systems in the human body, and it is a common pathogenetic trigger for many chronic diseases in the elderly. METHODS: The extracellular vesicles (EVs) from young and aged umbilical vein endothelial cells were isolated and identified by qPCR the differential expression levels of 47 mRNAs of genes closely related to aging in the two groups. RESULTS: There were significant differences in the expression levels of 18 genes (we noted upregulation in PLA2G12A, TP53BP1, CD144, PDE11A, FPGT, SERPINB4, POLD1, and PPFIBP2 and downregulation in ATP2C2, ROBO2, RRM2, GUCY1B1, NAT1-14, VEGFR2, WTAPP1, CD146, DMC1, and GRIK2)...
January 3, 2024: Hereditas
https://read.qxmd.com/read/37588742/-atp2c2-as-a-novel-immune-related-marker-that-defines-the-tumor-microenvironment-in-triple-negative-breast-cancer
#3
JOURNAL ARTICLE
Mingyuan Zhao, Qilong Zhang, Zichen Song, Huan Lei, Jing Li, Fang Peng, Shuangyan Lin
BACKGROUND: Triple-negative breast cancer (TNBC) is an aggressive cancer that affects about 13/100,000 women yearly. Patients with TNBC are often resistant to endocrine and molecular targeted therapy, making clinical treatment challenging. Researches indicate that tumor microenvironment (TME) is related to prognosis in many cancers. Therefore, we aim to identify TME immune-related biomarkers to enhance the prognosis and immunotherapy efficacy in patients with TNBC. METHODS: The bulk mRNA transcriptome data and clinical information of the (GSE58812) and (GSE25055) datasets were downloaded from the Gene Expression Omnibus (GEO) database, and the ESTIMATE algorithm was used to calculate the ImmuneScore, StromalScore, and ESTIMATEScore...
July 31, 2023: Translational Cancer Research
https://read.qxmd.com/read/36899615/identification-of-an-endoplasmic-reticulum-stress-related-gene-signature-to-predict-prognosis-and-potential-drugs-of-uterine-corpus-endometrial-cancer
#4
RANDOMIZED CONTROLLED TRIAL
Pei Zhou, Caiyun Wu, Cong Ma, Ting Luo, Jing Yuan, Ping Zhou, Zhaolian Wei
Uterine corpus endometrial cancer (UCEC) is the sixth most common female cancer worldwide, with an increasing incidence. Improving the prognosis of patients living with UCEC is a top priority. Endoplasmic reticulum (ER) stress has been reported to be involved in tumor malignant behaviors and therapy resistance, but its prognostic value in UCEC has been rarely investigated. The present study aimed to construct an ER stress-related gene signature for risk stratification and prognosis prediction in UCEC. The clinical and RNA sequencing data of 523 UCEC patients were extracted from TCGA database and were randomly assigned into a test group (n = 260) and training group (n = 263)...
January 2023: Mathematical Biosciences and Engineering: MBE
https://read.qxmd.com/read/36368116/comparative-transcriptome-analysis-in-the-caput-segment-of-yak-and-cattleyak-epididymis
#5
JOURNAL ARTICLE
Michael Adjei, Yan Yan, Chunhai Li, Cheng Pan, Meilan Pan, Peng Wang, Kerui Li, Khuram Shahzad, Xiaoying Chen, Wangsheng Zhao
Cattleyaks are equally adaptable to harsh environment as yaks, but produce far more milk and meat in terms of quality and quantity. However, male cattleyaks with active secondary sexuality are infertile and have restricted productivity and breeding of yaks. Much researches continue to be done in regard to the differences in transcriptome profiling in cattleyak epididymis with respect to yak epididymis. The caput segment of the epididymis is highly specialized for the initiation of spermatozoa maturation, synthesis and secretion...
November 3, 2022: Theriogenology
https://read.qxmd.com/read/35924220/integrative-analyses-identify-potential-key-genes-and-calcium-signaling-pathway-in-familial-atrioventricular-nodal-reentrant-tachycardia-using-whole-exome-sequencing
#6
JOURNAL ARTICLE
Jichang Huang, Rong Luo, Chenqing Zheng, Xin Cao, Yuncai Zhu, Tao He, Mingjiang Liu, Zhenglin Yang, Xiushan Wu, Xiaoping Li
Background: Atrioventricular nodal reentrant tachycardia (AVNRT) is a common arrhythmia. Growing evidence suggests that family aggregation and genetic factors are involved in AVNRT. However, in families with a history of AVNRT, disease-causing genes have not been reported. Objective: To investigate the genetic contribution of familial AVNRT using a whole-exome sequencing (WES) approach. Methods: Blood samples were collected from 20 patients from nine families with a history of AVNRT and 100 control participants, and we systematically analyzed mutation profiles using WES...
2022: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/35769418/a-genome-wide-association-study-of-bronchodilator-response-in-participants-of-european-and-african-ancestry-from-six-independent-cohorts
#7
JOURNAL ARTICLE
Jessica D Gereige, Hanfei Xu, Victor E Ortega, Michael H Cho, Ming Liu, Phuwanat Sakornsakolpat, Edwin K Silverman, Terri H Beaty, Bruce E Miller, Per Bakke, Amund Gulsvik, Craig P Hersh, Jarrett D Morrow, Elizabeth J Ampleford, Gregory A Hawkins, Eugene R Bleecker, Deborah A Meyers, Stephen P Peters, Juan C Celedón, Kelan Tantisira, Jiang Li, Josée Dupuis, George T O'Connor
Introduction: Bronchodilator response (BDR) is a measurement of acute bronchodilation in response to short-acting β2-agonists, with a heritability between 10 and 40%. Identifying genetic variants associated with BDR may lead to a better understanding of its complex pathophysiology. Methods: We performed a genome-wide association study (GWAS) of BDR in six adult cohorts with participants of European ancestry (EA) and African ancestry (AA) including community cohorts and cohorts ascertained on the basis of obstructive pulmonary disease...
April 2022: ERJ Open Research
https://read.qxmd.com/read/34540591/study-of-rare-genetic-variants-in-tm4sf20-nfxl1-cntnap2-and-atp2c2-in-pakistani-probands-and-families-with-language-impairment
#8
JOURNAL ARTICLE
Erin M Andres, Heather L Neely, Huma Hafeez, Tahira Yasmin, Farzana Kausar, M Asim Raza Basra, Muhammad Hashim Raza
Language impairment (LI) is highly heritable and aggregates in families. Genetic investigation of LI has revealed many chromosomal regions and genes of interest, though very few studies have focused on rare variant analysis in non-English speaking or non-European samples. We selected four candidate genes ( TM4SF20, NFXL1, CNTNAP2 and ATP2C2 ) strongly suggested for specific language impairment (SLI), a subtype of LI, and investigated rare protein coding variants through Sanger sequencing of probands with LI ascertained from Pakistan...
December 2021: Meta Gene
https://read.qxmd.com/read/34539327/identification-of-phonology-related-genes-and-functional-characterization-of-broca-s-and-wernicke-s-regions-in-language-and-learning-disorders
#9
JOURNAL ARTICLE
Nina Unger, Stefan Heim, Dominique I Hilger, Sebastian Bludau, Peter Pieperhoff, Sven Cichon, Katrin Amunts, Thomas W Mühleisen
Impaired phonological processing is a leading symptom of multifactorial language and learning disorders suggesting a common biological basis. Here we evaluated studies of dyslexia, dyscalculia, specific language impairment (SLI), and the logopenic variant of primary progressive aphasia (lvPPA) seeking for shared risk genes in Broca's and Wernicke's regions, being key for phonological processing within the complex language network. The identified "phonology-related genes" from literature were functionally characterized using Atlas-based expression mapping (JuGEx) and gene set enrichment...
2021: Frontiers in Neuroscience
https://read.qxmd.com/read/33936088/atp2c2-has-potential-to-define-tumor-microenvironment-in-breast-cancer
#10
JOURNAL ARTICLE
Jiazhou Liu, Yuxian Wei, Yushen Wu, Jie Li, Jiazheng Sun, Guosheng Ren, Hongzhong Li
Tumor microenvironment (TME) is vital for the occurrence and development of breast cancer (BRCA). However, it remains challenging to understand the dynamic modulation of the stromal and immune components comprehensively in TME. Herein, we used ESTIMATE and CIBERSORT algorithm to estimate the number of stromal and immune components and the abundance of tumor-infiltrating immune cells (TICs) in 582 BRCA cases from gene expression omnibus (GEO) database. We employed three regression models including univariable Cox proportion, LASSO regression model and multivariate Cox regression, and identified 7 immune-specific genes related to BRCA survival...
2021: Frontiers in Immunology
https://read.qxmd.com/read/33864365/a-rare-missense-variant-in-the-atp2c2-gene-is-associated-with-language-impairment-and-related-measures
#11
JOURNAL ARTICLE
Angela Martinelli, Mabel Rice, Joel B Talcott, Rebeca Diaz, Shelley Smith, Muhammad Hashim Raza, Margaret J Snowling, Charles Hulme, John Stein, Marianna E Hayiou-Thomas, Ziarih Hawi, Lindsey Kent, Samantha J Pitt, Dianne F Newbury, Silvia Paracchini
At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.p12) in the ATP2C2 gene. ATP2C2 was implicated in language disorders by linkage and association studies, and exactly the same variant was reported previously in a different exome sequencing study for language impairment (LI)...
April 16, 2021: Human Molecular Genetics
https://read.qxmd.com/read/32849296/identification-of-a-prognostic-3-gene-risk-prediction-model-for-thyroid-cancer
#12
JOURNAL ARTICLE
Haiping Zhao, Shiwei Zhang, Shijie Shao, Haixing Fang
Objective: We aimed to screen the genes associated with thyroid cancer (THCA) prognosis, and construct a poly-gene risk prediction model for prognosis prediction and improvement. Methods: The HTSeq-Counts data of THCA were accessed from TCGA database, including 505 cancer samples and 57 normal tissue samples. "edgeR" package was utilized to perform differential analysis, and weighted gene co-expression network analysis (WGCNA) was applied to screen the differential co-expression genes associated with THCA tissue types...
2020: Frontiers in Endocrinology
https://read.qxmd.com/read/31076498/a-ca-2-atpase-regulates-e-cadherin-biogenesis-and-epithelial-mesenchymal-transition-in-breast-cancer-cells
#13
JOURNAL ARTICLE
Donna K Dang, Monish Ram Makena, José P Llongueras, Hari Prasad, Myungjun Ko, Manuj Bandral, Rajini Rao
Progression of benign tumors to invasive, metastatic cancer is accompanied by the epithelial-to-mesenchymal transition (EMT), characterized by loss of the cell-adhesion protein E-cadherin. Although silencing mutations and transcriptional repression of the E-cadherin gene have been widely studied, not much is known about posttranslational regulation of E-cadherin in tumors. We show that E-cadherin is tightly coexpressed with the secretory pathway Ca2+ -ATPase isoform 2, SPCA2 ( ATP2C2 ), in breast tumors. Loss of SPCA2 impairs surface expression of E-cadherin and elicits mesenchymal gene expression through disruption of cell adhesion in tumorspheres and downstream Hippo-YAP signaling...
August 2019: Molecular Cancer Research: MCR
https://read.qxmd.com/read/30443032/rna-sequencing-based-analysis-of-the-laying-hen-uterus-revealed-the-novel-genes-and-biological-pathways-involved-in-the-eggshell-biomineralization
#14
JOURNAL ARTICLE
Nirvay Sah, Donna Lee Kuehu, Vedbar Singh Khadka, Youping Deng, Karolina Peplowska, Rajesh Jha, Birendra Mishra
Eggshell is the outermost calcified covering of an egg that protects it from microbial invasion and physical damage, and is critical for egg quality. However, understanding of the genes/proteins and the biological pathways regulating the eggshell formation is still obscure. We hypothesized that the transcriptomic analysis of the chicken uteri using RNA-sequencing may reveal novel genes and biological pathways involved in the eggshell biomineralization. RNA-sequence analysis using uteri of laying hens at 15-20 h post-ovulation (layers, n = 3) and non-laying (non-layers, n = 3) hens was carried out...
November 15, 2018: Scientific Reports
https://read.qxmd.com/read/30003630/genome-wide-association-meta-analysis-of-age-at-first-cannabis-use
#15
JOURNAL ARTICLE
Camelia C Minică, Karin J H Verweij, Peter J van der Most, Hamdi Mbarek, Manon Bernard, Kristel R van Eijk, Penelope A Lind, Meng Zhen Liu, Dominique F Maciejewski, Teemu Palviainen, Cristina Sánchez-Mora, Richard Sherva, Michelle Taylor, Raymond K Walters, Abdel Abdellaoui, Timothy B Bigdeli, Susan J T Branje, Sandra A Brown, Miguel Casas, Robin P Corley, George Davey-Smith, Gareth E Davies, Erik A Ehli, Lindsay Farrer, Iryna O Fedko, Iris Garcia-Martínez, Scott D Gordon, Catharina A Hartman, Andrew C Heath, Ian B Hickie, Matthew Hickman, Christian J Hopfer, Jouke Jan Hottenga, René S Kahn, Jaakko Kaprio, Tellervo Korhonen, Henry R Kranzler, Ken Krauter, Pol A C van Lier, Pamela A F Madden, Sarah E Medland, Michael C Neale, Wim H J Meeus, Grant W Montgomery, Ilja M Nolte, Albertine J Oldehinkel, Zdenka Pausova, Josep A Ramos-Quiroga, Vanesa Richarte, Richard J Rose, Jean Shin, Michael C Stallings, Tamara L Wall, Jennifer J Ware, Margaret J Wright, Hongyu Zhao, Hans M Koot, Tomas Paus, John K Hewitt, Marta Ribasés, Anu Loukola, Marco P Boks, Harold Snieder, Marcus R Munafò, Joel Gelernter, Dorret I Boomsma, Nicholas G Martin, Nathan A Gillespie, Jacqueline M Vink, Eske M Derks
BACKGROUND AND AIMS: Cannabis is one of the most commonly used substances among adolescents and young adults. Earlier age at cannabis initiation is linked to adverse life outcomes, including multi-substance use and dependence. This study estimated the heritability of age at first cannabis use and identified associations with genetic variants. METHODS: A twin-based heritability analysis using 8055 twins from three cohorts was performed. We then carried out a genome-wide association meta-analysis of age at first cannabis use in a discovery sample of 24 953 individuals from nine European, North American and Australian cohorts, and a replication sample of 3735 individuals...
November 2018: Addiction
https://read.qxmd.com/read/29201552/-atp2c2-and-dyx1c1-are-putative-modulators-of-dyslexia-related-mmr
#16
JOURNAL ARTICLE
Bent Müller, Gesa Schaadt, Johannes Boltze, Frank Emmrich, Michael A Skeide, Nicole E Neef, Indra Kraft, Jens Brauer, Angela D Friederici, Holger Kirsten, Arndt Wilcke
Background: Dyslexia is a specific learning disorder affecting reading and spelling abilities. Its prevalence is ~5% in German-speaking individuals. Although the etiology of dyslexia largely remains to be determined, comprehensive evidence supports deficient phonological processing as a major contributing factor. An important prerequisite for phonological processing is auditory discrimination and, thus, essential for acquiring reading and spelling skills. The event-related potential Mismatch Response (MMR) is an indicator for auditory discrimination capabilities with dyslexics showing an altered late component of MMR in response to auditory input...
November 2017: Brain and Behavior
https://read.qxmd.com/read/29191953/surfactant-protein-d-is-a-causal-risk-factor-for-copd-results-of-mendelian-randomisation
#17
JOURNAL ARTICLE
Ma'en Obeidat, Xuan Li, Stephen Burgess, Guohai Zhou, Nick Fishbane, Nadia N Hansel, Yohan Bossé, Philippe Joubert, Ke Hao, David C Nickle, Maarten van den Berge, Wim Timens, Michael H Cho, Brian D Hobbs, Kim de Jong, Marike Boezen, Rayjean J Hung, Nicholas Rafaels, Rasika Mathias, Ingo Ruczinski, Terri H Beaty, Kathleen C Barnes, Peter D Paré, Don D Sin
Surfactant protein D (SP-D) is produced primarily in the lung and is involved in regulating pulmonary surfactants, lipid homeostasis and innate immunity. Circulating SP-D levels in blood are associated with chronic obstructive pulmonary disease (COPD), although causality remains elusive.In 4061 subjects with COPD, we identified genetic variants associated with serum SP-D levels. We then determined whether these variants affected lung tissue gene expression in 1037 individuals. A Mendelian randomisation framework was then applied, whereby serum SP-D-associated variants were tested for association with COPD risk in 11 157 cases and 36 699 controls and with 11 years decline of lung function in the 4061 individuals...
November 2017: European Respiratory Journal
https://read.qxmd.com/read/28473875/genome-wide-dna-methylation-analysis-reveals-loci-that-distinguish-different-types-of-adipose-tissue-in-obese-individuals
#18
JOURNAL ARTICLE
Donia Macartney-Coxson, Miles C Benton, Ray Blick, Richard S Stubbs, Ronald D Hagan, Michael A Langston
BACKGROUND: Epigenetic mechanisms provide an interface between environmental factors and the genome and are known to play a role in complex diseases such as obesity. These mechanisms, including DNA methylation, influence the regulation of development, differentiation and the establishment of cellular identity. Here we employ two approaches to identify differential methylation between two white adipose tissue depots in obese individuals before and after gastric bypass and significant weight loss...
2017: Clinical Epigenetics
https://read.qxmd.com/read/28000910/-environmental-and-genetic-variables-related-with-alterations-in-language-acquisition-in-early-childhood
#19
REVIEW
A Moriano-Gutierrez, J Colomer-Revuelta, J Sanjuan, J M Carot-Sierra
INTRODUCTION: A great deal of research has addressed problems in the correct acquisition of language, but with few overall conclusions. The reasons for this lie in the individual variability, the existence of different measures for assessing language and the fact that a complex network of genetic and environmental factors are involved in its development. AIM: To review the environmental and genetic variables that have been studied to date, in order to gain a better under-standing of the causes of specific language impairment and create new evidence that can help in the development of screening systems for the early detection of these disorders...
January 1, 2017: Revista de Neurologia
https://read.qxmd.com/read/27017909/atp2c2-is-transcribed-from-a-unique-transcriptional-start-site-in-mouse-pancreatic-acinar-cells
#20
JOURNAL ARTICLE
Melissa A Fenech, Caitlin M Sullivan, Lucimar T Ferreira, Rashid Mehmood, William A MacDonald, Peter B Stathopulos, Christopher L Pin
Proper regulation of cytosolic Ca(2+) is critical for pancreatic acinar cell function. Disruptions in normal Ca(2+) concentrations affect numerous cellular functions and are associated with pancreatitis. Membrane pumps and channels regulate cytosolic Ca(2+) homeostasis by promoting rapid Ca(2+) movement. Determining how expression of Ca(2+) modulators is regulated and the cellular alterations that occur upon changes in expression can provide insight into initiating events of pancreatitis. The goal of this study was to delineate the gene structure and regulation of a novel pancreas-specific isoform for Secretory Pathway Ca(2+) ATPase 2 (termed SPCA2C), which is encoded from the Atp2c2 gene...
December 2016: Journal of Cellular Physiology
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