Genetics gene

Szabolcs Takáts, Luca Lévay, Attila Boda, Sarolta Tóth, Zsófia Simon-Vecsei, András Rubics, Ágnes Varga, Mónika Lippai, Péter Lőrincz, Gábor Glatz, Gábor Juhász
Warburg Micro Syndrome (WMS) is a hereditary autosomal neuromuscular disorder in humans caused by mutations in Rab18, Rab3GAP1 or Rab3GAP2 genes. Rab3GAP1/2 form a heterodimeric complex, which acts as a guanosine nucleotide exchange factor and activates Rab18. Although the genetic causes of WMS are known, it is still unclear whether loss of the Rab3GAP-Rab18 module affects neuronal or muscle cell physiology or both, and how. In this work, we characterize a Rab3GAP2 mutant Drosophila line to establish a novel animal model for WMS...
April 4, 2020: FEBS Journal
Lan Kluwe, Reinhard E Friedrich, Said C Farschtschi, Christian Hagel, Hildegard Kehrer-Sawatzki, Victor-Felix Mautner
We coincidently detected an atypical deletion of at least 1.3-Mb encompassing the NF1 tumor suppressor gene and several adjacent genes at an apparent heterozygous level in blood of a 65 years old female patient. She had multiple subcutaneous tumors which appeared with certain similarity of subcutaneous neurofibromas which however revealed as lipomas by histological examination. Comprehensive and exhaustive clinical and radiological examinations did not detect any neurofibromatosis type 1-related clinical symptoms in the patient...
April 5, 2020: Human Mutation
P G Preena, T Raja Swaminathan, V J Rejish Kumar, I S Bright Singh
One of the major problems to be addressed in aquaculture is the prominence of antimicrobial resistance (AMR). The occurrence of bacterial infections in cultured fishes promotes the continuous use of antibiotics in aquaculture, which results in the selection of proliferated antibiotic resistant bacteria and increases the possibility of transfer to the whole environment through horizontal gene transfer. Hence, the accurate cultivation dependent and independent detection methods are very much crucial for the immediate and proper management of this menace...
April 5, 2020: Letters in Applied Microbiology
E V Krutikova, E A Stepanova, P F Wong, I V Kiseleva, E P Grigor'eva, L G Rudenko
The reassortant vaccine strain of live attenuated influenza vaccine inherits temperature sensitivity and areactogenicity from cold-adapted attenuated master donor virus. In Russia, B/ USSR/60/69 master donor virus (B60) is currently in use for the preparation of live attenuated type B influenza vaccine candidates. Trivalent live attenuated influenza vaccine based on A/ Leningrad/134/17/57 and B60 are licensed for the use in Russia for single dose vaccination of adults and children over 3 years. B/Leningrad/14/17/55 (B14) cold-adapted virus is a backup master donor virus for live attenuated type B influenza vaccine...
April 4, 2020: Bulletin of Experimental Biology and Medicine
Jochen Ohnmacht, Patrick May, Lasse Sinkkonen, Rejko Krüger
Parkinson's disease (PD) is a neurodegenerative disorder caused by a complex interplay of genetic and environmental factors. For the stratification of PD patients and the development of advanced clinical trials, including causative treatments, a better understanding of the underlying genetic architecture of PD is required. Despite substantial efforts, genome-wide association studies have not been able to explain most of the observed heritability. The majority of PD-associated genetic variants are located in non-coding regions of the genome...
April 4, 2020: Journal of Neural Transmission
Daniel F Wallace, James S Dooley
Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by determining the frequency of ATP7B variants in a genomic sequence database. A catalogue of WD-associated ATP7B variants was constructed, and then, frequency information for these was extracted from the gnomAD data set...
April 4, 2020: Human Genetics
Yan-Yan Jin, Li-Min Huang, Xiao-Fang Quan, Jian-Hua Mao
BACKGROUND: Dent disease is a rare tubulopathy characterized by manifestations of proximal tubular dysfunction, which occurs almost exclusively in males. It mainly presents symptoms in early childhood and may progress to end-stage renal failure between the 3rd and 5th decades of human life. According to its various genetic basis and to clinical signs and symptoms, researchers define two forms of Dent disease (Dent diseases 1 and 2) and suggest that these forms are produced by mutations in the CLCN5 and OCRL genes, respectively...
April 4, 2020: World Journal of Pediatrics: WJP
Wen-Li Luo, Ming-Xing Luo, Rong-Zhen He, Lv-Fang Ying, Jian Luo
BACKGROUND Bone morphogenetic proteins (BMPs) are widely involved in cancer development. However, a wealth of conflicting data raises the question of whether BMPs serve as oncogenes or as cancer suppressors. MATERIAL AND METHODS By integrating multi-omics data across cancers, we comprehensively analyzed the genomic and pharmacogenomic landscape of BMP genes across cancers. RESULTS Surprisingly, our data indicate that BMPs are globally downregulated in cancers. Further genetics and epigenetics analyses show that this abnormal expression is driven by copy number variations, especially heterozygous amplification...
April 5, 2020: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Mariana A Ryznychuk, Iryna V Lastivka, Vasily P Pishak, Mariana I Kryvchanska, Violeta G Khomenko
The paper deals with a case of TRAPS in a Ukrainian family. The manifestations of this syndrome appeared at the age of 2,5 years and gradually the attacks of fever became morefrequent and the recurrence was typical of this diagnosis. Classically, besides fever, there was an intense abdominal pain, such as an "acute abdomen", arthralgia in the right hip and headache. Micropoliadenia was also detected. This patient did not have any other symptoms. A genetic study found a mutation in the TNFRSF1A gene (substitution in exon 4 with 3449T> G: p...
2020: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Svitlana I Ilchenko, Anastasiia O Fialkovska, Olena S Koreniuk, Tatiana V Yaroshevska, Nataliia M Kramarenko, Kateryna V Skriabina
OBJECTIVE: The aim is to study the clinical features of the course of CB in adolescent smokers and to study the genetic risk factors for the development of COPD. PATIENTS AND METHODS: Materials and methods: There were examined 40 adolescent smokers with CB, 30 never-smokers adolescents with CB and 37 healthy adolescents smokers (control group). The study included the collection of anamnesis, objective examination. calculation of the smoking index and the «pack/year», molecular genetic investigations...
2020: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Annalisa Occhipinti, Youssef Hamadi, Hillel Kugler, Christoph Wintersteiger, Boyan Yordanov, Claudio Angione
Computational modelling of metabolic processes has proven to be a useful approach to formulate our knowledge and improve our understanding of core biochemical systems that are crucial to maintaining cellular functions. Towards understanding the broader role of metabolism on cellular decision-making in health and disease conditions, it is important to integrate the study of metabolism with other core regulatory systems and omics within the cell, including gene expression patterns. After quantitatively integrating gene expression profiles with a genome-scale reconstruction of human metabolism, we propose a set of combinatorial methods to reverse engineer gene expression profiles and to find pairs and higher-order combinations of genetic modifications that simultaneously optimize multi-objective cellular goals...
April 2, 2020: IEEE/ACM Transactions on Computational Biology and Bioinformatics
Yeyu Chen, Quan Gong, Jiansheng Lai, Mingjiang Song, Ya Liu, Yingbin Wu, Jiagui Ai, Zhihai Long
In vertebrates, skin pigmentation is the most diverse phenotypic trait, and it is produced by a complex biological process that is often genetically controlled. Recently, two different colors (the typical brown and orange varieties) of Triplophysa siluroides, a species restricted to Yellow River drainage in China, were discovered. In the present study, the skin, brain and liver transcriptomes of T. siluroides of both colors were sequenced to search for genes related to skin pigmentation. Transcriptome sequencing generated 1,484,197,774 clean reads, resulting in a total of 222...
March 28, 2020: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
Francisco E Martín-Cano Fe, Gemma Gaitskell-Phillips, José M Ortiz-Rodríguez, Antonio Silva-Rodríguez, Ángel Román, Patricia Rojo-Domínguez, Esmeralda Alonso-Rodríguez, José A Tapia, Maria C Gil, C Ortega-Ferrusola, Fernando J Peña
Proteomic technologies allow the detection of thousands of proteins at the same time, being a powerful technique to reveal molecular regulatory mechanisms in spermatozoa and also sperm damage linked to low fertility or specific biotechnologies. Modifications induced by the cryopreservation in the stallion sperm proteome were studied using HPLC/MS/MS. Ejaculates from fertile stallions were collected and split in two subsamples, one was investigated as fresh (control) samples, and the other aliquot frozen and thawed using standard procedures and investigated as frozen thawed subsamples...
April 2, 2020: Journal of Proteomics
Judith Tchouomene-Labou, Tito Trésor Melachio-Tanekou, Gustave Simo, Dramane Kaba, Sophie Ravel, Flobert Njiokou
A good understanding of tsetse fly population structure and migration is essential to optimize the control of sleeping sickness. This can be done by studying the genetics of tsetse fly populations. In this work, we estimated the genetic differentiation within and among geographically separated Glossina palpalis palpalis populations from Cameroon, the Democratic Republic of the Congo and Ivory Coast. We determined the demographic history of these populations and assessed phylogenetic relationships among individuals of this sub-species...
April 2, 2020: Infection, Genetics and Evolution
Anh H L Nguyen, Sonthaya Tiawsirisup, Morakot Kaewthamasorn
Vector-borne pathogens (VBPs) pose a great risk to ruminant production through significant economic losses. Several previous studies in Thailand have mainly been focused on the health of dairy and beef cattle. Water buffaloes are one of the important ruminants in the country, but studies on their infection with VBPs remains limited. We conducted a molecular survey on blood samples from 456 buffaloes obtained from eight provinces across different geographical locations of Thailand. The PCR diagnostics indicated that 116 (25...
April 2, 2020: Infection, Genetics and Evolution
Janan Mohamad, Ofer Sarig, Liron Malki, Tom Rabinowitz, Sari Assaf, Kiril Malovitski, Eden Shkury, Talia Mayer, Dan Vodo, Alon Peled, Daniel Daniely, Mor Pavlovsky, Noam Shomron, Liat Samuelov, Eli Sprecher
Inherited palmoplantar keratodermas (PPKs) refer to a large and heterogeneous group of conditions resulting from abnormal epidermal differentiation and featuring thickening of the skin of the palms and soles. Here, we aimed at delineating the genetic basis of an autosomal recessive form of PPK manifesting with erythematous hyperkeratotic plaques over the palms and soles, extending to non-palmoplantar areas. Whole exome sequencing revealed in affected individuals homozygous nonsense variants in the SERPINA12 gene...
April 2, 2020: Journal of Investigative Dermatology
Grace Hile, J Michelle Kahlenberg, Johann E Gudjonsson
Psoriatic arthritis (PsA) is a heterogeneous disease that affects multiple organ systems including the peripheral and axial joints, entheses and nails. PsA is associated with significant comorbidities including cardiovascular, metabolic, and psychiatric diseases. The pathogenesis of PsA is complex and involves genetic, immunologic and environmental factors. Recent evidence suggests that the heritability for PsA to be stronger and distinct from that of PsC. Prominent genes identified via GWAS for PsA include HLA-B/C, HLAB, IL12B, IL23R, TNP1, TRAF3IP3, and REL...
April 2, 2020: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Pengcheng Du, Dejun Liu, Huangwei Song, Pei Zhang, Ruichao Li, Yulin Fu, Xiao Liu, Jinli Jia, Xiaodi Li, Séamus Fanning, Yang Wang, Li Bai, Hui Zeng
OBJECTIVES: As the spread of antimicrobial resistance genes becomes an increasing global threat, improved understanding of genetic structure and transferability of the resistant plasmids becomes more critical. The newly description of several plasmid-mediatedtet(X) variant genes, tet(X3), tet(X4) and tet(X5), poses a considerable risk for public health. This study aimed to investigate the recombination event that occurred during the conjugation process of a tet(X4)-bearing plasmid. METHODS: A Tet(X4)-producing Escherichia coli isolate, 2019XSD11, was subjected to susceptibility testing, S1-PFGE and whole genome sequencing...
April 2, 2020: Journal of Global Antimicrobial Resistance
Auderlan M Gois, Deise M F Mendonça, Marco Aurelio M Freire, Jose R Santos
Amyotrophic Lateral Sclerosis (ALS) is a progressive, neurodegenerative disease characterized by loss of upper motor neurons (UMN) and lower motor neurons (LMN). Disease affects people all over the world and is more prevalent in men. Patients with ALS develop extensive muscle wasting, paralysis and ultimately death, with a median survival of usually fewer than five years after disease onset. ALS may be sporadic (sALS, 90%) or familial (fALS, 10%). The large majority of fALS cases are associated with genetic alterations, which are mainly related to the genes SOD1, TDP-43, FUS, and C9ORF72...
April 2, 2020: Brain Research Bulletin
Jingyun Zhang, Yuhuan Luo, Chueh Loo Poh
Bacterial motility is related to many cellular activities, such as cell migration, aggregation, and biofilm formations. The ability to control motility and direct the bacteria to certain location could be used to guide the bacteria in applications such as seeking for and killing pathogen, forming various population-level patterns, and delivering of drugs and vaccines. Currently, bacteria motility is mainly controlled by chemotaxis (prescribed chemical stimuli), which needs physical contact with the chemical inducer...
April 2, 2020: Journal of Molecular Biology
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