keyword
MENU ▼
Read by QxMD icon Read
search

Reference gene

keyword
https://www.readbyqxmd.com/read/29053796/exome-sequencing-and-network-analysis-identifies-shared-mechanisms-underlying-spinocerebellar-ataxia
#1
Esther A R Nibbeling, Anna Duarri, Corien C Verschuuren-Bemelmans, Michiel R Fokkens, Juha M Karjalainen, Cleo J L M Smeets, Jelkje J de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana B Bampi, Cleo van Diemen, Ewout Brunt, Elly Ippel, Berry Kremer, Monique Vlak, Noam Adir, Cisca Wijmenga, Bart P C van de Warrenburg, Lude Franke, Richard J Sinke, Dineke S Verbeek
The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053644/dental-approach-for-apert-syndrome-in-children-a-systematic-review
#2
A-S López-Estudillo, M-A Rosales-Bérber, S Ruiz-Rodríguez, A Pozos-Guillén, Á Noyola-Frías, A Garrocho-Rangel
BACKGROUND: Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS...
October 20, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/29052939/qtl-mapping-and-analysis-of-heritable-variation-in-affiliative-social-behavior-and-related-traits
#3
Allison T Knoll, Kevin Jiang, Pat Levitt
Humans exhibit broad heterogeneity in affiliative social behavior. Twin and family studies demonstrate that individual differences in core dimensions of social behavior are heritable, yet there are knowledge gaps in understanding the underlying genetic and neurobiological mechanisms. Animal genetic reference panels (GRPs) provide a tractable strategy for examining the behavioral and genetic architecture of complex traits. Here, using males from 50 mouse strains from the BXD GRP, four domains of affiliative social behavior-social approach, social recognition, direct social interaction (partner sniffing), and vocal communication-were examined in two widely used behavioral tasks-the 3-chamber and direct social interaction tasks...
October 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29052564/reference-intervals-of-mitochondrial-dna-copy-number-in-peripheral-blood-for-chinese-minors-and-adults
#4
Chang-Yu Xia, Yu Liu, Hui-Rong Yang, Hong-Yun Yang, Jing-Xia Liu, Yi-Nan Ma, Yu Qi
BACKGROUND: Mitochondrial DNA (mtDNA) content measured by different techniques cannot be compared between studies, and age- and tissue-related control values are hardly available. In the present study, we aimed to establish the normal reference range of mtDNA copy number in the Chinese population. METHODS: Two healthy cohorts of 200 Chinese minors (0.1-18.0 years) and 200 adults (18.0-88.0 years) were recruited. Then, they were further categorized into eight age groups...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29051974/cardiac-disease-in-familial-mediterranean-fever
#5
REVIEW
Eren Erken, Ertugrul Erken
Familial Mediterranean fever (FMF) is an autoinflammatory disease manifested by inflammatory attacks of peritonitis, pleuritis, pericarditis accompanied by fever and arthritis. Mutations of MEFV gene results in pyrin dysfunction, which causes uncontrolled interleukin-1 beta production and triggers the inflammatory attacks. Inflammation persists even during attack-free periods in one-third of the FMF patients. Findings of elevated proinflammatory cytokine patterns during remission as well as inflammatory attacks indicate the continuous subclinical disease activity and inflammation...
October 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29051597/controlling-for-confounding-effects-in-single-cell-rna-sequencing-studies-using-both-control-and-target-genes
#6
Mengjie Chen, Xiang Zhou
Single cell RNA sequencing (scRNAseq) technique is becoming increasingly popular for unbiased and high-resolutional transcriptome analysis of heterogeneous cell populations. Despite its many advantages, scRNAseq, like any other genomic sequencing technique, is susceptible to the influence of confounding effects. Controlling for confounding effects in scRNAseq data is a crucial step for accurate downstream analysis. Here, we present a novel statistical method, which we refer to as scPLS (single cell partial least squares), for robust and accurate inference of confounding effects...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29051594/reference-genes-validation-in-phenacoccus-solenopsis-under-various-biotic-and-abiotic-stress-conditions
#7
Surjeet Kumar Arya, Gourav Jain, Santosh Kumar Upadhyay, Sarita, Harpal Singh, Sameer Dixit, Praveen Chandra Verma
Real-time PCR (RT-qPCR) expression analysis is a powerful analytical technique, but for normalization of data requires the use of stable reference genes. However, suitable reference genes are still not known in the case of Phenacoccus solenopsis under variable experimental treatments. The present study focused on the identification of stable housekeeping genes as a reference for analysis under different abiotic and biotic factors in P. solenopsis. We analyzed the relative expression of six commonly used candidate reference genes in different developmental stages, host-feeding assay, temperature treatments and field distribution conditions...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29050770/genomic-plasticity-between-human-and-mycobacterial-dna-a-review
#8
REVIEW
Lawal Danjuma, Mok Pooi Ling, Rukman Awang Hamat, Akon Higuchi, Abdullah A Alarfaj, Marlina, Giovanni Benelli, Palanisamy Arulselvan, Mariappan Rajan, Suresh Kumar Subbiah
Mycobacterium tuberculosis has a remarkable ability of long-term persistence despite vigorous host immunity and prolonged therapy. The bacteria persist in secure niches such as the mesenchymal stem cells in the bone marrow and reactivate the disease, leading to therapeutic failure. Many bacterial cells can remain latent within a diseased tissue so that their genetic material can be incorporated into the genetic material of the host tissue. This incorporated genetic material reproduces in a manner similar to that of cellular DNA...
December 2017: Tuberculosis
https://www.readbyqxmd.com/read/29050768/single-nucleotide-polymorphisms-in-efflux-pumps-genes-in-extensively-drug-resistant-mycobacterium-tuberculosis-isolates-from-pakistan
#9
Akbar Kanji, Rumina Hasan, Asho Ali, Ambreen Zaver, Ying Zhang, Kehkashan Imtiaz, Wanliang Shi, Taane G Clark, Ruth McNerney, Jody Phelan, Shoaib Rao, Samreen Shafiq, Zahra Hasan
It is challenging to understand mechanisms of drug resistance in Mycobacterium tuberculosis (MTB) due to the large variability in resistance associated genes. Efflux pump genes contribute to drug resistance and thus add to this complexity. Efflux pump gene protein superfamilies have been characterized by genome analysis of drug resistant strains and through in vitro transcriptional studies. However, there is limited information regarding efflux pump genes in extensively drug resistant (XDR) tuberculosis (TB) isolates...
December 2017: Tuberculosis
https://www.readbyqxmd.com/read/29050298/overexpression-of-col3a1-confers-a-poor-prognosis-in-human-bladder-cancer-identified-by-co-expression-analysis
#10
Lushun Yuan, Bo Shu, Liang Chen, Kaiyu Qian, Yongzhi Wang, Guofeng Qian, Yuan Zhu, Xinyue Cao, Conghua Xie, Yu Xiao, Xinghuan Wang
Human bladder cancer (BCa) is one of the worldwide cancers in men and women populations, with the etiology and mechanism unknown. In our study, we constructed a weighted gene co-expression network to identify gene modules associated with the progression of BCa (n = 93). In the significant module (R(2) = 0.48), a total of 103 network hub genes were identified, and 4 of them were hub nodes in the protein-protein interaction network as well. In validation, COL3A1 showed a higher correlation with the disease progression than any other hub genes in hub module in the test set (p < 0...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29049373/barcoding-the-butterflies-of-southern-south-america-species-delimitation-efficacy-cryptic-diversity-and-geographic-patterns-of-divergence
#11
Pablo D Lavinia, Ezequiel O Núñez Bustos, Cecilia Kopuchian, Darío A Lijtmaer, Natalia C García, Paul D N Hebert, Pablo L Tubaro
Because the tropical regions of America harbor the highest concentration of butterfly species, its fauna has attracted considerable attention. Much less is known about the butterflies of southern South America, particularly Argentina, where over 1,200 species occur. To advance understanding of this fauna, we assembled a DNA barcode reference library for 417 butterfly species of Argentina, focusing on the Atlantic Forest, a biodiversity hotspot. We tested the efficacy of this library for specimen identification, used it to assess the frequency of cryptic species, and examined geographic patterns of genetic variation, making this study the first large-scale genetic assessment of the butterflies of southern South America...
2017: PloS One
https://www.readbyqxmd.com/read/29049312/impact-of-annotation-error-in-%C3%AE-globin-genes-on-molecular-diagnosis
#12
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/29049310/molecular-epidemiology-of-influenza-b-virus-among-hospitalized-pediatric-patients-in-northern-italy-during-the-2015-16-season
#13
Antonio Piralla, Giovanna Lunghi, Luca Ruggiero, Alessia Girello, Sonia Bianchini, Francesca Rovida, Silvia Caimmi, Gian Luigi Marseglia, Nicola Principi, Fausto Baldanti, Susanna Esposito
BACKGROUND: The influenza B viruses belong to two lineages distinguished by their genetic and antigenic characteristics, which are referred to as the Yamagata and Victoria lineages, designated after their original isolates, B/Yamagata/16/88 and B/Victoria/2/87. The primary aim of this study was to evaluate the molecular characteristics of influenza B viruses circulating in a region of Northern Italy, Lombardia, during the influenza season of 2015-2016. METHODS: Influenza B virus was detected using a respiratory virus panel of assays and an influenza B-specific real-time polymerase chain reaction...
2017: PloS One
https://www.readbyqxmd.com/read/29049296/genome-wide-expression-analysis-of-salt-stressed-diploid-and-autotetraploid-paulownia-tomentosa
#14
Zhenli Zhao, Yongsheng Li, Haifang Liu, Xiaoqiao Zhai, Minjie Deng, Yanpeng Dong, Guoqiang Fan
Paulownia tomentosa is a fast-growing tree species with multiple uses. It is grown worldwide, but is native to China, where it is widely cultivated in saline regions. We previously confirmed that autotetraploid P. tomentosa plants are more stress-tolerant than the diploid plants. However, the molecular mechanism underlying P. tomentosa salinity tolerance has not been fully characterized. Using the complete Paulownia fortunei genome as a reference, we applied next-generation RNA-sequencing technology to analyze the effects of salt stress on diploid and autotetraploid P...
2017: PloS One
https://www.readbyqxmd.com/read/29048765/ageratum-conyzoides-l-inhibits-5-alpha-reductase-gene-expression-in-human-prostate-cells-and-reduces-symptoms-of-benign-prostatic-hypertrophy-in-otherwise-healthy-men-in-a-double-blind-randomized-placebo-controlled-clinical-study
#15
Matthew Detering, Elizabeth Steels, Sundar Rao Koyyalamudi, Elena Allifranchini, Elena Bocchietto, Luis Vitetta
A double-blind, randomized, placebo-controlled clinical trial assessed the efficacy and safety of Ageratum conyzoides in treating benign prostatic hypertrophy (BPH). In this study, 109 men with medically diagnosed BPH, aged 41-76 years, were administered the investigational product, A. conyzoides extract at a dose of 250 mg/d or placebo, q.d. for 12 weeks. The primary outcome measures were the International Prostate Symptom Score (IPSS), daily urinary frequency and safety evaluations. The secondary outcome measures were testosterone, dihydrotestosterone, oestradiol, sex hormone binding globulin (SHBG), Dehydroepiandrosterone sulfate (DHEA-S) and cortisol levels, and prostate specific antigen (PSA), lipids, blood glucose, the Aging Male's Symptom (AMS) Score and sexual function assessed by Derogatis Interview for Sexual Functioning-Self Report (DISF-SR)...
October 19, 2017: BioFactors
https://www.readbyqxmd.com/read/29048752/the-how-and-where-of-plant-micrornas
#16
REVIEW
Yu Yu, Tianran Jia, Xuemei Chen
Contents Summary I. II. III. IV. References SUMMARY: MicroRNAs (miRNAs) are small non-coding RNAs, of typically 20-24 nt, that regulate gene expression post-transcriptionally through sequence complementarity. Since the identification of the first miRNA, lin-4, in the nematode Caenorhabditis elegans in 1993, thousands of miRNAs have been discovered in animals and plants, and their regulatory roles in numerous biological processes have been uncovered. In plants, research efforts have established the major molecular framework of miRNA biogenesis and modes of action, and are beginning to elucidate the mechanisms of miRNA degradation...
October 19, 2017: New Phytologist
https://www.readbyqxmd.com/read/29048620/dna-methylation-and-histone-modifications-as-epigenetic-regulation-in-prostate-cancer-review
#17
Maria Nowacka-Zawisza, Ewelina Wiśnik
Prostate cancer is the second most commonly diagnosed cancer in men in Poland after lung cancer and the third leading cause of cancer-related mortality after lung and colon cancer. The etiology of most cases of prostate cancer are not fully known, and therefore it is essential to search for the molecular basis of prostate cancer and markers for the early diagnosis of this type of cancer. Epigenetics deals with changes in gene expression that are not determined by changes in the DNA sequence. Epigenetic changes refer to changes in the structure of DNA, which are the result of DNA modification after replication and/or post-translational modification of proteins associated with DNA...
September 20, 2017: Oncology Reports
https://www.readbyqxmd.com/read/29048578/genome-assembly-and-transcriptome-resource-for-river-buffalo-bubalus-bubalis-2n-50
#18
John L Williams, Daniela Iamartino, Kim D Pruitt, Tad Sonstegard, Timothy P L Smith, Wai Yee Low, Tommaso Biagini, Lorenzo Bomba, Stefano Capomaccio, Bianca Castiglioni, Angelo Coletta, Federica Corrado, Fabrizio Ferré, Leopoldo Iannuzzi, Cynthia Lawley, Nicolò Macciotta, Matthew McClure, Giordano Mancini, Donato Matassino, Raffaele Mazza, Marco Milanesi, Bianca Moioli, Nicola Morandi, Luigi Ramunno, Vincenzo Peretti, Fabio Pilla, Paola Ramelli, Steven Schroeder, Francesco Strozzi, Francoise Thibaud-Nissen, Luigi Zicarelli, Paolo Ajmone-Marsan, Alessio Valentini, Giovanni Chillemi, Aleksey Zimin
Water buffalo is a globally important species for agriculture and local economies. A de novo assembled, well annotated, reference sequence for the water buffalo is an important prerequisite for studying the biology of this species, and necessary to manage genetic diversity and to use modern breeding and genomic selection techniques. However, no such genome assembly has been previously reported. There are two species of domestic water buffalo, the river (2n = 50) and the swamp (2n = 48) buffalo. Here we describe a draft quality reference sequence for the river buffalo created from Illumina GA and Roche 454 short read sequences using the MaSuRCA assembler...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/29048540/long-read-sequencing-of-the-coffee-bean-transcriptome-reveals-the-diversity-of-full-length-transcripts
#19
Bing Cheng, Agnelo Furtado, Robert J Henry
Background: Polyploidization contributes to the complexity of gene expression resulting in numerous related but different transcripts. This study explored the transcriptome diversity and complexity of tetraploid Arabica coffee ( Coffea arabica ) bean. Long-read sequencing (LRS) by Pacbio Isoform sequencing (Iso-seq) was used to obtain full-length transcripts without the difficulty and uncertainty of assembly required for reads from short read technologies. The tetraploid transcriptome was annotated and compared with data from the sub-genome progenitors...
August 30, 2017: GigaScience
https://www.readbyqxmd.com/read/29048483/draft-genome-of-the-gayal-bos-frontalis
#20
Ming-Shan Wang, Yan Zeng, Xiao Wang, Wen-Hui Nie, Jin-Huan Wang, Wei-Ting Su, Newton O Otecko, Zi-Jun Xiong, Sheng Wang, Kai-Xing Qu, Shou-Qing Yan, Min-Min Yang, Wen Wang, Yang Dong, Dong-Dong Wu, Ya-Ping Zhang
Background: Gayal (Bos frontalis), also known as mithan or mithun, is a large endangered semi-domesticated bovine that has a limited geographical distribution in the hill-forests of China, Northeast India, Bangladesh, Myanmar, and Bhutan. Many questions about the gayal such as its origin, population history as well as genetic basis of local adaptation remain largely unresolved. De novo sequencing and assembly of the whole gayal genome provides an opportunity to address these issues. Findings: We report a high-depth sequencing, de novo assembly, and annotation of a female Chinese gayal genome...
October 5, 2017: GigaScience
keyword
keyword
109419
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"