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https://www.readbyqxmd.com/read/29050400/metformin-reverses-trap1-mutation-associated-alterations-in-mitochondrial-function-in-parkinson-s-disease
#1
Julia C Fitzgerald, Alexander Zimprich, Daniel A Carvajal Berrio, Kevin M Schindler, Brigitte Maurer, Claudia Schulte, Christine Bus, Anne-Kathrin Hauser, Manuela Kübler, Rahel Lewin, Dheeraj Reddy Bobbili, Lisa M Schwarz, Evangelia Vartholomaiou, Kathrin Brockmann, Richard Wüst, Johannes Madlung, Alfred Nordheim, Olaf Riess, L Miguel Martins, Enrico Glaab, Patrick May, Katja Schenke-Layland, Didier Picard, Manu Sharma, Thomas Gasser, Rejko Krüger
The mitochondrial proteins TRAP1 and HTRA2 have previously been shown to be phosphorylated in the presence of the Parkinson's disease kinase PINK1 but the downstream signalling is unknown. HTRA2 and PINK1 loss of function causes parkinsonism in humans and animals. Here, we identified TRAP1 as an interactor of HTRA2 using an unbiased mass spectrometry approach. In our human cell models, TRAP1 overexpression is protective, rescuing HTRA2 and PINK1-associated mitochondrial dysfunction and suggesting that TRAP1 acts downstream of HTRA2 and PINK1...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050202/phosphodiesterase-10a-is-overexpressed-in-lung-tumor-cells-and-inhibitors-selectively-suppress-growth-by-blocking-%C3%AE-catenin-and-mapk-signaling
#2
Bing Zhu, Ashley Lindsey, Nan Li, Kevin Lee, Veronica Ramirez-Alcantara, Joshua C Canzoneri, Alexandra Fajardo, Luciana Madeira da Silva, Meagan Thomas, John T Piazza, Larry Yet, Brian T Eberhardt, Evrim Gurpinar, Dennis Otali, William Grizzle, Jacob Valiyaveettil, Xi Chen, Adam B Keeton, Gary A Piazza
Phosphodiesterase 10A (PDE10) is a cyclic nucleotide (e.g. cGMP) degrading enzyme highly expressed in the brain striatum where it plays an important role in dopaminergic neurotransmission, but has limited expression and no known physiological function outside the central nervous system. Here we report that PDE10 mRNA and protein levels are strongly elevated in human non-small cell lung cancer cells and lung tumors compared with normal human airway epithelial cells and lung tissue, respectively. Genetic silencing of PDE10 or inhibition by small molecules such as PQ10 was found to selectively inhibit the growth and colony formation of lung tumor cells...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29049978/targeting-eif4e-inhibits-growth-survival-and-angiogenesis-in-retinoblastoma-and-enhances-efficacy-of-chemotherapy
#3
Genguo Wang, Zhi Li, Zhuojun Li, Yi Huang, Xiaochun Mao, Chang Xu, Sha Cui
Although the eukaryotic translation initiation factor 4E (eIF4E) has been shown to be critically involved in the transformation and progression of various tumors, little is known about the role of eIF4E in retinoblastoma. In this work, we report that ribavirin, a pharmacologic inhibitor of eIF4E function, effectively targets retinoblastoma and angiogenesis. Ribavirin treatment dose-dependently blocked the growth and stimulated apoptosis in various retinoblastoma cell lines, with IC50 values that are within the clinically achievable range...
October 16, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29049847/neurofibromatosis-type-1-and-optic-pathway-glioma-molecular-interplay-and-therapeutic-insights
#4
REVIEW
Soumen Khatua, David H Gutmann, Roger J Packer
Children with neurofibromatosis type 1 (NF1) are predisposed to develop central nervous system neoplasms, the most common of which are low-grade gliomas (LGGs). The absence of human NF1 associated LGG-derived cell lines, coupled with an inability to generate patient-derived xenograft models, represents barriers to profile molecularly targeted therapies for these tumors. Thus, genetically engineered mouse models have been identified to evaluate the interplay between Nf1-deficient tumor cells and nonneoplastic stromal cells to evaluate potential therapies for these neoplasms...
October 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29049734/a-computational-approach-from-gene-to-structure-analysis-of-the-human-abca4-transporter-involved-in-genetic-retinal-diseases
#5
Alfonso Trezza, Andrea Bernini, Andrea Langella, David B Ascher, Douglas E V Pires, Andrea Sodi, Ilaria Passerini, Elisabetta Pelo, Stanislao Rizzo, Neri Niccolai, Ottavia Spiga
Purpose: The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database collecting knowledge of ABCA4 structure may facilitate predictions about the possible functional consequences of gene mutations observed in clinical practice. Methods: In order to correlate structural and functional effects of the observed mutations, the structure of mouse P-glycoprotein was used as a template for homology modeling...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29049388/an-inducible-mouse-model-of-podocin-mutation-related-nephrotic-syndrome
#6
Mansoureh Tabatabaeifar, Tanja Wlodkowski, Ivana Simic, Helga Denc, Geraldine Mollet, Stefanie Weber, John Julius Moyers, Barbara Brühl, Michael Joseph Randles, Rachel Lennon, Corinne Antignac, Franz Schaefer
Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a R140Q mutation, the mouse analogue of human R138Q, show developmental arrest of podocytes and lethal renal failure at neonatal age. Here we created a conditional podocin knock-in model named NPHS2 R140Q/-, using a tamoxifen-inducible Cre recombinase, which permits to study the effects of the mutation in postnatal life...
2017: PloS One
https://www.readbyqxmd.com/read/29049378/immune-modulatory-genomic-properties-differentiate-gut-microbiota-of-infants-with-and-without-eczema
#7
Seungdae Oh, Gaik Chin Yap, Pei-Ying Hong, Chiung-Hui Huang, Marion M Aw, Lynette Pei-Chi Shek, Wen-Tso Liu, Bee Wah Lee
Gut microbiota play an important role in human immunological processes, potentially affecting allergic diseases such as eczema. The diversity and structure of gut microbiota in infants with eczema have been previously documented. This study aims to evaluate by comparative metagenomics differences in genetic content in gut microbiota of infants with eczema and their matched controls. Stools were collected at the age of one month old from twelve infants from an at risk birth cohort in a case control manner. Clinical follow up for atopic outcomes were carried out at the age of 12 and 24 months...
2017: PloS One
https://www.readbyqxmd.com/read/29049360/the-bacterial-virulence-factor-caga-induces-microbial-dysbiosis-that-contributes-to-excessive-epithelial-cell-proliferation-in-the-drosophila-gut
#8
Tiffani Alvey Jones, Diane Z Hernandez, Zoë C Wong, Anica M Wandler, Karen Guillemin
Gut microbiota facilitate many aspects of human health and development, but dysbiotic microbiota can promote hyperplasia and inflammation and contribute to human diseases such as cancer. Human patients infected with the gastric cancer-causing bacterium Helicobacter pylori have altered microbiota; however, whether dysbiosis contributes to disease in this case is unknown. Many H. pylori human disease phenotypes are associated with a potent virulence protein, CagA, which is translocated into host epithelial cells where it alters cell polarity and manipulates host-signaling pathways to promote disease...
October 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/29049314/evaluation-of-characteristic-of-human-turbinate-derived-mesenchymal-stem-cells-cultured-in-the-serum-free-media
#9
Se Hwan Hwang, WeonSun Lee, Sang Hi Park, Hee Jin Lee, Sun Hwa Park, Dong Chang Lee, Mi Hyun Lim, Sang A Back, Byeong Gon Yun, Jung Ho Jeun, Jung Yeon Lim, Jun Myung Kang, Sung Won Kim
We evaluated the effect of serum-free and xeno-cultivation (SFXFM) on the characterization, proliferation, and differentiation properties of human nasal stem cells (airway tissue; hTMSCs). hTMSCs were isolated from 10 patients, after which patient samples were separated into two groups, an SFXFM group and a control group. The control group was treated with bovine serum-containing medium. FACS analysis revealed that SFXFM-cultured hTMSCs maintained a characteristic mesenchymal stem cell phenotype. hTMSC proliferation was not influenced by SFXFM...
2017: PloS One
https://www.readbyqxmd.com/read/29049312/impact-of-annotation-error-in-%C3%AE-globin-genes-on-molecular-diagnosis
#10
J Francis Borgio
BACKGROUND: Recent studies on the variants in duplicated human alpha globin genes (HBA2 and HBA1) actively target the α-globin gene as molecular modulators for the treatment of β-thalassemia major. Identification of the exact position of variant in HBA1, HBA2 or its patchworks is mandatory to support the therapeutic aims in β-thalassemia major, by identifying specific modulators for the reactivation of fetal hemoglobin production. Hence, accurate identification of the variants in α-globin genes is crucial for the proper diagnosis, treatment and genetic counseling...
2017: PloS One
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#11
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29049206/the-molecular-epidemiology-of-respiratory-viruses-associated-with-asthma-attacks-a-single-center-observational-study-in-japan
#12
Takeshi Saraya, Hirokazu Kimura, Daisuke Kurai, Haruyuki Ishii, Hajime Takizawa
Few reports have described the significance of viral respiratory infections (VRIs) in exacerbation of asthma in adult patients. The aim of this study was to elucidate the profiles of VRIs in adult patients with asthma along with their molecular epidemiology.A cross-sectional observational study was conducted at Kyorin University Hospital from August 2012 to May 2015. To identify respiratory pathogens in inpatients and outpatients suffering from asthma attacks, RT-PCR/sequencing/phylogenetic analysis methods were applied alongside conventional microbiological methods...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29049190/chronic-active-epstein-barr-virus-infection-as-the-initial-symptom-in-a-janus-kinase-3-deficiency-child-case-report-and-literature-review
#13
Linqing Zhong, Wei Wang, Mingsheng Ma, Lijuan Gou, Xiaoyan Tang, Hongmei Song
RATIONALE: With the progress of sequencing technology, an increasing number of atypical primary immunodeficiency (PID) patients have been discovered, including Janus kinase 3 (JAK3) gene deficiency. PATIENT CONCERNS: We report a patient who presented with chronic active Epstein-Barr virus (CAEBV) infection but responded poorly to treatment with ganciclovir. DIAGNOSES: Next-generation sequencing (NGS) was performed, including all known PID genes, after which Sanger sequencing was performed to verify the results...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29048424/analysis-of-human-cerebrospinal-fluid-monoamines-and-their-cofactors-by-hplc
#14
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, Mercedes Casado, Cristina Sierra, Angels García-Cazorla, Manju Kurian, Simon Pope, Simon J Heales, Rafael Artuch
The presence of monoamines and their cofactors (the pterins and vitamin B6 (pyridoxal phosphate (PLP))) in human cerebrospinal fluid (CSF) can be used as indicators of the biosynthesis and turnover of dopamine and serotonin in the brain. In addition, abnormalities in the CSF levels of these molecules are associated with various neurological diseases, including genetic diseases leading to dopamine and serotonin deficiency. Here, we provide a set of quantitative high-performance liquid-chromatography (HPLC) approaches to determine CSF levels of monoamines and their cofactors...
November 2017: Nature Protocols
https://www.readbyqxmd.com/read/29047390/roles-of-bccip-deficiency-in-mammary-tumorigenesis
#15
Roberto Droz-Rosario, Huimei Lu, Jingmei Liu, Ning-Ang Liu, Shridar Ganesan, Bing Xia, Bruce G Haffty, Zhiyuan Shen
BACKGROUND: Dysregulated DNA repair and cell proliferation controls are essential driving forces in mammary tumorigenesis. BCCIP was originally identified as a BRCA2 and CDKN1A interacting protein that has been implicated in maintenance of genomic stability, cell cycle regulation, and microtubule dynamics. The aims of this study were to determine whether BCCIP deficiency contributes to mammary tumorigenesis, especially for a subset of breast cancers with 53BP1 abnormality, and to reveal the mechanistic implications of BCCIP in breast cancer interventions...
October 18, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29047380/population-genetics-of-enterocytozoon-bieneusi-in-captive-giant-pandas-of-china
#16
Wei Li, Yuan Song, Zhijun Zhong, Xiangming Huang, Chengdong Wang, Caiwu Li, Haidi Yang, Haifeng Liu, Zhihua Ren, Jingchao Lan, Kongju Wu, Guangneng Peng
BACKGROUND: Most studies on Enterocytozoon bieneusi are conducted based on the internal transcribed spacer (ITS) region of the rRNA gene, whereas some have examined E. bieneusi population structures. Currently, the population genetics of this pathogen in giant panda remains unknown. The objective of this study was to determine the E. bieneusi population in captive giant pandas in China. RESULTS: We examined 69 E. bieneusi-positive specimens from captive giant pandas in China using five loci (ITS, MS1, MS3, MS4 and MS7) to infer E...
October 18, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29047346/mapping-eqtl-by-leveraging-multiple-tissues-and-dna-methylation
#17
Chaitanya R Acharya, Kouros Owzar, Andrew S Allen
BACKGROUND: DNA methylation is an important tissue-specific epigenetic event that influences transcriptional regulation of gene expression. Differentially methylated CpG sites may act as mediators between genetic variation and gene expression, and this relationship can be exploited while mapping multi-tissue expression quantitative trait loci (eQTL). Current multi-tissue eQTL mapping techniques are limited to only exploiting gene expression patterns across multiple tissues either in a joint tissue or tissue-by-tissue frameworks...
October 18, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29047309/chimpanzee-adenoviral-vectors-as-vaccines-challenges-to-move-the-technology-into-the-fast-lane
#18
Alessandra Vitelli, Antonella Folgori, Elisa Scarselli, Stefano Colloca, Stefania Capone, Alfredo Nicosia
In recent years, replication-defective chimpanzee-derived adenoviruses have been extensively evaluated as genetic vaccines. These vectors share desirable properties with human adenoviruses like the broad tissue tropism and the ease of large-scale manufacturing. Additionally, chimpanzee adenoviruses have the advantage to overcome the negative impact of pre-existing anti-human adenovirus immunity. Areas covered: Here the authors review current pre-clinical research and clinical trials that utilize chimpanzee-derived adenoviral vectors as vaccines...
October 19, 2017: Expert Review of Vaccines
https://www.readbyqxmd.com/read/29046661/mitophagy-in-parkinson-s-disease-pathogenic-and-therapeutic-implications
#19
REVIEW
Fei Gao, Jia Yang, Dongdong Wang, Chao Li, Yi Fu, Huaishan Wang, Wei He, Jianmin Zhang
Neurons affected in Parkinson's disease (PD) experience mitochondrial dysfunction and bioenergetic deficits that occur early and promote the disease-related α-synucleinopathy. Emerging findings suggest that the autophagy-lysosome pathway, which removes damaged mitochondria (mitophagy), is also compromised in PD and results in the accumulation of dysfunctional mitochondria. Studies using genetic-modulated or toxin-induced animal and cellular models as well as postmortem human tissue indicate that impaired mitophagy might be a critical factor in the pathogenesis of synaptic dysfunction and the aggregation of misfolded proteins, which in turn impairs mitochondrial homeostasis...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29046608/elucidating-the-molecular-basis-of-ppcd-effects-of-decreased-zeb1-expression-on-corneal-endothelial-cell-function
#20
Marina Zakharevich, Jaffer M Kattan, Judy L Chen, Benjamin R Lin, Aleck E Cervantes, Doug D Chung, Ricardo F Frausto, Anthony J Aldave
PURPOSE: To investigate the functional role that the zinc e-box binding homeobox 1 (ZEB1) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal endothelial cell proliferation, apoptosis, migration, and barrier function. METHODS: A human corneal endothelial cell line (HCEnC-21T) was transfected with siRNA targeting ZEB1 mRNA. Cell proliferation, apoptosis, migration, and barrier assays were performed: Cell proliferation was assessed with cell counting using a hemocytometer; cell apoptosis, induced by either ultraviolet C (UVC) radiation or doxorubicin treatment, was quantified by measuring cleaved caspase 3 (cCASP3) protein levels; and cell migration and barrier function were monitored with electric cell-substrate impedance sensing (ECIS)...
2017: Molecular Vision
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