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https://www.readbyqxmd.com/read/29036958/-a-clinical-and-hereditary-analysis-of-novel-complex-heterozygous-kcnj1-mutation-in-a-bartter-syndrome-type-%C3%A2-patient
#1
X Y Li, Y Jiang, L J Xu, L Duan, X Y Peng, L M Chen, W B Xia, X P Xing
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). DNA sequencing identified compound heterozygous KCNJ1 gene mutations, c. 931C >T (p...
October 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29036902/dna-adducts-formed-by-aristolochic-acid-are-unique-biomarkers-of-exposure-and-explain-the-initiation-phase-of-upper-urothelial-cancer
#2
REVIEW
Marie Stiborová, Volker M Arlt, Heinz H Schmeiser
Aristolochic acid (AA) is a plant alkaloid that causes aristolochic acid nephropathy (AAN) and Balkan endemic nephropathy (BEN), unique renal diseases frequently associated with upper urothelial cancer (UUC). This review summarizes the significance of AA-derived DNA adducts in the aetiology of UUC leading to specific A:T to T:A transversion mutations (mutational signature) in AAN/BEN-associated tumours, which are otherwise rare in individuals with UCC not exposed to AA. Therefore, such DNA damage produced by AA-DNA adducts is one rare example of the direct association of exposure and cancer development (UUC) in humans, confirming that the covalent binding of carcinogens to DNA is causally related to tumourigenesis...
October 14, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29036836/a-panel-of-slow-channel-congenital-myasthenic-syndrome-mice-reveals-a-unique-locomotor-behavioral-signature
#3
José G Grajales-Reyes, Aurian García-González, José C María-Ríos, Gary E Grajales-Reyes, Manuel Delgado-Vélez, Carlos A Báez-Pagán, Orestes Quesada, Christopher M Gómez, José A Lasalde-Dominicci
Muscle nicotinic acetylcholine receptor (nAChR) mutations can lead to altered channel kinetics and neuromuscular junction degeneration, a neurodegenerative disorder collectively known as slow-channel congenital myasthenic syndrome (SCCMS). A multivariate analysis using running wheels was used to generate activity profiles for a variety of SCCMS models, uncovering unique locomotor patterns for the different nAChR mutants. Particularly, the αL251T and ɛL269F mutations exhibit decreased event distance, duration, and velocity over a period of 24 hours...
October 13, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29036791/globo-h-expression-is-associated-with-driver-mutations-and-pd-l1-expressions-in-stage-i-non-small-cell-lung-cancer
#4
Ching-Yao Yang, Mong-Wei Lin, Yih-Leong Chang, Chen-Tu Wu
BACKGROUND: Globo H is a tumor-associated carbohydrate antigen exclusively expressed in cancer cells rather than normal tissue. Globo H has been found on many cancers of epithelial origins, and become an attractive target for cancer vaccine. OBJECTIVES: We aimed to study the expression of Globo H in non-small cell lung cancer (NSCLC) patients, and correlated its expression with common driver mutations, clinical outcomes, and status of immune checkpoint, programmed death-ligand 1 (PD-L1)...
September 29, 2017: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/29036719/channelsdb-database-of-biomacromolecular-tunnels-and-pores
#5
Lukáš Pravda, David Sehnal, Radka Svobodová Vareková, Veronika Navrátilová, Dominik Toušek, Karel Berka, Michal Otyepka, Jaroslav Koca
ChannelsDB (http://ncbr.muni.cz/ChannelsDB) is a database providing information about the positions, geometry and physicochemical properties of channels (pores and tunnels) found within biomacromolecular structures deposited in the Protein Data Bank. Channels were deposited from two sources; from literature using manual deposition and from a software tool automatically detecting tunnels leading to the enzymatic active sites and selected cofactors, and transmembrane pores. The database stores information about geometrical features (e...
October 3, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29036710/a-disulfide-bond-a-like-oxidoreductase-is-a-strong-candidate-gene-for-self-incompatibility-in-apricot-prunus-armeniaca-pollen
#6
Juan Vicente Muñoz-Sanz, Elena Zuriaga, María L Badenes, Carlos Romero
S-RNase based gametophytic self-incompatibility (SI) is a widespread prezygotic reproductive barrier in flowering plants. In the Solanaceae, Plantaginaceae and Rosaceae gametophytic SI is controlled by the pistil-specific S-RNases and the pollen S-locus F-box proteins but non-S-specific factors, namely modifiers, are also required. In apricot, Prunus armeniaca (Rosaceae), we previously mapped two pollen-part mutations that confer self-compatibility in cultivars Canino and Katy at the distal end of chromosome 3 (M-locus) unlinked to the S-locus...
September 25, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/29036691/nuclear-localized-c9orf72-associated-arginine-containing-dipeptides-exhibit-age-dependent-toxicity-in-c-elegans
#7
Paige Rudich, Carley Snoznik, Simon C Watkins, John Monaghan, Udai Bhan Pandey, Todd Lamitina
A hexanucleotide repeat expansion mutation in the C9orf72 gene represents a prevalent genetic cause of several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Non-canonical translation of this repeat gives rise to several distinct dipeptide protein species that could play pathological roles in disease. Here, we show in the model system C. elegans that expression of the arginine-containing dipeptides, but not alanine-containing dipeptides, produces toxic phenotypes in multiple cellular contexts, including motor neurons...
September 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29036688/a-cell-penetrating-antibody-inhibits-human-rad51-via-direct-binding
#8
Audrey Turchick, Denise C Hegan, Ryan B Jensen, Peter M Glazer
RAD51, a key factor in homology-directed repair (HDR), has long been considered an attractive target for cancer therapy, but few specific inhibitors have been found. A cell-penetrating, anti-DNA, lupus autoantibody, 3E10, was previously shown to inhibit HDR, sensitize tumors to radiation, and mediate synthetic lethal killing of BRCA2-deficient cancer cells, effects that were initially attributed to its affinity for DNA. However, as the molecular basis for its ability to inhibit DNA repair, we report that 3E10 directly binds to the N-terminus of RAD51, sequesters RAD51 in the cytoplasm, and impedes RAD51 binding to DNA...
September 28, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29036671/crispr-cas9-mediated-gene-knockout-is-insensitive-to-target-copy-number-but-is-dependent-on-guide-rna-potency-and-cas9-sgrna-threshold-expression-level
#9
Garmen Yuen, Fehad J Khan, Shaojian Gao, Jayne M Stommel, Eric Batchelor, Xiaolin Wu, Ji Luo
CRISPR/Cas9 is a powerful gene editing tool for gene knockout studies and functional genomic screens. Successful implementation of CRISPR often requires Cas9 to elicit efficient target knockout in a population of cells. In this study, we investigated the role of several key factors, including variation in target copy number, inherent potency of sgRNA guides, and expression level of Cas9 and sgRNA, in determining CRISPR knockout efficiency. Using isogenic, clonal cell lines with variable copy numbers of an EGFP transgene, we discovered that CRISPR knockout is relatively insensitive to target copy number, but is highly dependent on the potency of the sgRNA guide sequence...
September 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29036646/de-novo-deleterious-sequence-variants-that-alter-the-transcriptional-activity-of-the-homeoprotein-pbx1-are-associated-with-intellectual-disability-and-pleiotropic-developmental-defects
#10
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads...
September 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29036617/arrayed-mutant-haploid-embryonic-stem-cell-libraries-facilitate-phenotype-driven-genetic-screens
#11
Guang Liu, Xue Wang, Yufang Liu, Meili Zhang, Tao Cai, Zhirong Shen, Yuyan Jia, Yue Huang
Forward genetic screens using mammalian embryonic stem (ES) cells have identified genes required for numerous cellular processes. However, loss-of-function screens are more difficult to conduct in diploid cells because, in most cases, both alleles of a gene must be mutated to exhibit a phenotype. Recently, mammalian haploid ES cell lines were successfully established and applied to several recessive genetic screens. However, all these screens were performed in mixed pools of mutant cells and were mainly based on positive selection...
September 28, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29036614/identification-of-a-candidate-mutation-in-the-col1a2-gene-of-a-chow-chow-with-osteogenesis-imperfecta
#12
E M Quist, R Doan, R R Pool, B F Porter, D L Bannasch, S V Dindot
Osteogenesis imperfecta (OI) is a genetic disease that occurs in humans and animals. Individuals with OI exhibit signs of extreme bone fragility and osteopenia with frequent fractures and perinatal lethality in severe cases. In this study, we report the clinical diagnosis of OI in a dog and the use targeted next-generation sequencing to identify a candidate autosomal dominant mutation in the COL1A2 gene. A five-month old male Chow Chow was examined with a fractured left humerus and resolving, bilateral femoral fractures...
September 19, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/29036611/progranulin-mediated-deficiency-of-cathepsin-d-results-in-ftd-and-ncl-like-phenotypes-in-neurons-derived-from-ftd-patients
#13
Clarissa Valdez, Yvette C Wong, Michael Schwake, Guojun Bu, Zbigniew K Wszolek, Dimitri Krainc
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL). However, how dose-dependent PGRN mutations contribute to these two different diseases is not well understood...
September 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29036608/insights-into-rna-polymerase-catalysis-and-adaptive-evolution-gained-from-mutational-analysis-of-a-locus-conferring-rifampicin-resistance
#14
Olga Yurieva, Vadim Nikiforov, Vadim Nikiforov, Michael O'Donnell, Arkady Mustaev
S531 of Escherichia coli RNA polymerase (RNAP) β subunit is a part of RNA binding domain in transcription complex. While highly conserved, S531 is not involved in interactions within the transcription complex as suggested by X-ray analysis. To understand the basis for S531 conservation we performed systematic mutagenesis of this residue. We find that the most of the mutations significantly decreased initiation-to-elongation transition by RNAP. Surprisingly, some changes enhanced the production of full-size transcripts by suppressing abortive loss of short RNAs...
September 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29036590/tissgdb-tissue-specific-gene-database-in-cancer
#15
Pora Kim, Aekyung Park, Guangchun Han, Hua Sun, Peilin Jia, Zhongming Zhao
Tissue-specific gene expression is critical in understanding biological processes, physiological conditions, and disease. The identification and appropriate use of tissue-specific genes (TissGenes) will provide important insights into disease mechanisms and organ-specific therapeutic targets. To better understand the tissue-specific features for each cancer type and to advance the discovery of clinically relevant genes or mutations, we built TissGDB (Tissue specific Gene DataBase in cancer) available at http://zhaobioinfo...
September 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29036518/are-prothrombotic-mutations-a-time-to-event-risk-factor
#16
Branko V Tomic, Maja Z Gvozdenov, Iva B Pruner, Jelena M Simic, Mirjana K Kovac, Dragica P Radojkovic, Valentina J Djordjevic
Background: Deep vein thrombosis (DVT) represents a common disorder involving genetic and acquired risk factors. It has been proposed that acquired risk factors are more important with aging than genetic factors, indicating different prevalence of prothrombotic mutations throughout the lifespan. Objective: To determine the role of the most frequent prothrombotic genetic risk factors (Factor V [FV] Leiden and Factor II [FII] G20210A mutations) in first-time DVT etiology in patients of different ages...
September 23, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29036500/glioma-cpg-island-methylator-phenotype-g-cimp-biological-and-clinical-implications
#17
Tathiane M Malta, Camila F de Souza, Thais S Sabedot, Tiago C Silva, Maritza Q S Mosella, Steven N Kalkanis, James Snyder, Ana Valeria B Castro, Houtan Noushmehr
Gliomas are a heterogeneous group of brain tumors with distinct biological and clinical properties. Despite advances in surgical techniques and clinical regimens, treatment of high-grade glioma remains challenging and carries dismal rates of therapeutic success and overall survival. Challenges include the molecular complexity of gliomas, as well as inconsistencies in histopathological grading, resulting in an inaccurate prediction of disease progression and failure in the use of standard therapy. The updated 2016 World Health Organization (WHO) classification of tumors of the central nervous system reflects a refinement of tumor diagnostics by integrating the genotypic and phenotypic features, thereby narrowing the defined subgroups...
September 26, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29036497/forecasting-residue-residue-contact-prediction-accuracy
#18
P P Wozniak, B M Konopka, J Xu, G Vriend, M Kotulska
Motivation: Apart from meta-predictors, most of today's methods for residue-residue contact prediction are based entirely on Direct Coupling Analysis (DCA) of correlated mutations in multiple sequence alignments (MSAs). These methods are on average ∼40% correct for the 100 strongest predicted contacts in each protein. The end-user who works on a single protein of interest will not know if predictions are either much more or much less correct than 40%, which is especially a problem if contacts are predicted to steer experimental research on that protein...
June 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29036491/transcription-associated-compositional-skews-in-drosophila-genes
#19
Juraj Bergman, Andrea J Betancourt, Claus Vogl
In many organisms, local deviations from Chargaff's second parity rule are observed around replication and transcription start sites and within intron sequences. Here, we use expression data as well as a whole-genome dataset of nearly 200 haplotypes to investigate such compositional skews in Drosophila melanogaster genes. We find a positive correlation between compositional skew and gene expression, comparable in strength to similar correlations between expression levels and genome-wide sequence features. This correlation is relatively stronger for germline, compared to somatic expression, consistent with the process of transcription-associated mutation bias...
September 25, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29036479/a-structural-basis-for-the-antibiotic-resistance-conferred-by-an-n1-methylation-of-a1408-in-16s-rrna
#20
Hiroki Kanazawa, Fumika Baba, Mai Koganei, Jiro Kondo
The aminoglycoside resistance conferred by an N1-methylation of A1408 in 16S rRNA by a novel plasmid-mediated methyltransferase NpmA can be a future health threat. In the present study, we have determined crystal structures of the bacterial ribosomal decoding A site with an A1408m1A antibiotic-resistance mutation both in the presence and absence of aminoglycosides. G418 and paromomycin both possessing a 6'-OH group specifically bind to the mutant A site and disturb its function as a molecular switch in the decoding process...
October 3, 2017: Nucleic Acids Research
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