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Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gerard, Jean-Louis Mandel, Michel Koenig, Jamel Chelly, Mathieu Anheim
Importance: Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. Objective: To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders. Design, Setting and Participants: We selected 127 genes associated with movement disorders to create a customized enrichment in solution capture array...
June 18, 2018: JAMA Neurology
Mehmet Bugrahan Duz, Selcuk Dasdemir, Aysel Kalayci Yigin, Mehmet Ali Akalin, Mehmet Seven
Hereditary spastic paraparesis (HSP) constitutes both genetic and clinically heterogeneous group of upper motor neuron diseases. Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In the first step of work, Sanger sequencing (SS) was performed in ATL1, SPAST, and REEP1 genes and the second phase whole-exome sequencing (WES) was performed following SS analysis for the patients with no detected mutations in these genes...
June 16, 2018: Neurological Sciences
Dong Li, Tara L Wenger, Christoph Seiler, Michael E March, Alvaro Gutierrez-Uzquiza, Charlly Kao, Elizabeth Bhoj, Lifeng Tian, Misha Rosenbach, Yichuan Liu, Nora Robinson, Mechenzie Behr, Rosetta Chiavacci, Cuiping Hou, Tiancheng Wang, Marina Bakay, Renata Pellegrino da Silva, Jonathan A Perkins, Patrick Sleiman, Michael A Levine, Patricia J Hicks, Maxim Itkin, Yoav Dori, Hakon Hakonarson
Central conducting lymphatic anomaly (CCLA) is one of the complex lymphatic anomalies characterized by dilated lymphatic channels, lymphatic channel dysmotility, and distal obstruction affecting lymphatic drainage. We performed whole exome sequencing (WES) of DNA from a four-generation pedigree and examined the consequences of the variant by transfection of mammalian cells and morpholino and rescue studies in zebrafish. WES revealed a heterozygous mutation in EPHB4 (RefSeq NM_004444.4; c.2334 + 1G>C) and RNA-Seq demonstrated that the EPHB4 mutation destroys the normal donor site, which leads to the use of a cryptic splice donor that results in retention of the intervening 12-bp intron sequence...
June 14, 2018: Human Molecular Genetics
John K L Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H T Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S Cherny
Objective: We investigated the role of rare genetic variants and of de novo variants in the pathogenesis of mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). Methods: Whole-exome sequencing (WES) was performed in patients with MTLE-HS and their unaffected parents (trios). Genes or gene sets that were enriched with predicted damaging rare variants in the patients as compared to population controls were identified. Patients and their parents were compared to identify whether the variants were de novo or inherited...
June 2018: Neurology. Genetics
Keiichi Hatakeyama, Takeshi Nagashima, Kenichi Urakami, Keiichi Ohshima, Masakuni Serizawa, Sumiko Ohnami, Yuji Shimoda, Shumpei Ohnami, Koji Maruyama, Akane Naruoka, Yasuto Akiyama, Masatoshi Kusuhara, Tohru Mochizuki, Ken Yamaguchi
Tumor mutational burden (TMB) is an emerging characteristic in cancer and has been associated with microsatellite instability, defective DNA replication/repair, and response to PD-1 and PD-L1 blockade immunotherapy. When estimating TMB, targeted panel sequencing is performed using a few hundred genes; however, a comparison of TMB results obtained with this platform and with whole exome sequencing (WES) has not been performed for various cancer types. In the present study, we compared TMB results using the above two platforms in 2,908 solid tumors that were obtained from Japanese patients...
2018: Biomedical Research
Kristian Kniha, Heinz Kniha, Ingrid Grunert, Daniel Edelhoff, Frank Hölzle, Ali Modabber
The purpose of this study was to evaluate ceramic dental implants using different esthetic scores. A total of 53 ceramic dental implants were evaluated using the Pink Esthetic Score (PES), White Esthetic Score (WES), and Peri-Implant and Crown Index (PICI). Prosthodontists, orthodontists, oral surgeons, and dentistry students independently performed assessments. The mean value of combined PES + WES was 17.4 points, and the PICI was 523.2 points. Orthodontists assessed a significantly lower result in both indices compared to all other assessor groups (P ≤ ...
June 12, 2018: International Journal of Periodontics & Restorative Dentistry
Shaohua Tang, Manli Jia, Chong Chen, Huanzheng Li, Lin Hu, Zhaotang Luan, Xueqin Xu, Jianxin Lyu
OBJECTIVE: To explore the clinical features and genetic mutation in a family affected with non-syndrome X-linked intellectual disability (NS-XLID) using whole exome sequencing (WES). METHODS: Multiplex ligation-dependent probe amplification (MLPA) was applied to screen potential mutations of Fragile X syndrome (FXS). Whole exome sequencing (WES) and Sanger sequencing were screen for pathological mutations. RESULTS: FXS was excluded by MLPA analysis...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Matthew J Huentelman, Ignazio S Piras, Ashley L Siniard, Matthew D De Both, Ryan F Richholt, Chris D Balak, Pouya Jamshidi, Eileen H Bigio, Sandra Weintraub, Emmaleigh T Loyer, M-Marsel Mesulam, Changiz Geula, Emily J Rogalski
Introduction : SuperAgers are adults age 80+ with episodic memory performance that is at least as good as that of average middle-aged adults. Understanding the biological determinants of SuperAging may have relevance to preventing age-related cognitive decline and dementia. This study aimed to identify associations between genetic variations and the SuperAging phenotype using Whole Exome Sequencing (WES). Methods : Sequence Kernel Association Combined (SKAT-C) test was conducted at the gene level including both rare and common variants in 56 SuperAgers and 22 cognitively-average controls from the Alzheimer's disease Neuroimaging Initiative (ADNI)...
2018: Frontiers in Aging Neuroscience
Jason R Schwartz, Michael P Walsh, Jing Ma, Tamara Lamprecht, Shuoguo Wang, Gang Wu, Susana Raimondi, Brandon Triplett, Jeffery Klco
Donor-derived hematologic malignancies are rare complications of hematopoietic cell transplantation (HCT). Although these are commonly either a myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML), in general, they are a heterogeneous group of diseases and a unified mechanism for their development has remained elusive. Here we report next generation sequencing, including whole exome sequencing (WES), whole genome sequencing (WGS), and targeted sequencing, of a case of donor-derived MDS (dMDS) following HCT for high-risk B-lymphoblastic leukemia (B-ALL) in an adolescent...
June 11, 2018: Cold Spring Harbor Molecular Case Studies
Bo-Wen Deng, Xiao-Zhou Luo, Chun-Zhi Tang, Xiao Zhang
OBJECTIVE: To evaluate the efficacy and safety of acupuncture in the treatment of epilepsy. METHODS: We first collected research data about randomized control trials (RCTs) of acupuncture treatment of epilepsy from databases CNKI, CBM, VIP and Wanfang using key words "(acupuncture)", "(epilepsy)"or "(epilepsy)"or "(epilepsy)", and from PubMed, Google Scholar, and Cochrane Library using key words "acupuncture" "needling" "prod" "epilepsy" "epilepsies" or "seizure disorder" or "simple seizure" from the date of database construction to May 5, 2017...
April 25, 2018: Zhen Ci Yan Jiu, Acupuncture Research
D Fang, L L Liang, W J Qiu, Y J Fan, Y Sun, H Yan, Y G Yu, X F Gu
Objective: To investigate clinical, molecular genetic characteristics, and treatment outcomes of 3 children with sitosterolemia. Methods: Three cases of children presented with multiple xanthomas during June 2016 to June 2017 were included. The clinical manifestations, laboratory examinations and follow-up data were retrospectively analyzed. DNA was extracted from peripheral blood and analyzed with whole exome sequencing(WES). All the detected variants were confirmed by Sanger sequencing. Plasma plant sterol concentrations were measured by gas chromatography-mass spectrometry...
June 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Luca Persani, Tiziana de Filippis, Carla Colombo, Davide Gentilini
The technological advancements in genetics produced a profound impact on the research and diagnostics of non-communicable diseases. The availability of Next Generation Sequencing (NGS) allowed the identification of novel candidate genes but also an in depth modification of the understanding of the architecture of several endocrine diseases. Several different NGS approaches are available allowing the sequencing of several regions of interest or the whole exome or genome (WGS, WES, or targeted NGS), with highly variable costs, potentials and limitations that should be clearly known before designing the experiment...
June 7, 2018: European Journal of Endocrinology
Yosr Hamdi, Maroua Boujemaa, Mariem Ben Rekaya, Cherif Ben Hamda, Najah Mighri, Houda El Benna, Nesrine Mejri, Soumaya Labidi, Nouha Daoud, Chokri Naouali, Olfa Messaoud, Mariem Chargui, Kais Ghedira, Mohamed Samir Boubaker, Ridha Mrad, Hamouda Boussen, Sonia Abdelhak
BACKGROUND: A family history of breast cancer has long been thought to indicate the presence of inherited genetic events that predispose to this disease. In North Africa, many specific epidemio-genetic characteristics have been observed in breast cancer families when compared to Western populations. Despite these specificities, the majority of breast cancer genetics studies performed in North Africa remain restricted to the investigation of the BRCA1 and BRCA2 genes. Thus, comprehensive data at a whole exome or whole genome level from local patients are lacking...
June 7, 2018: Journal of Translational Medicine
Julia Y Mescheriakova, Annemieke Jmh Verkerk, Najaf Amin, André G Uitterlinden, Cornelia M van Duijn, Rogier Q Hintzen
BACKGROUND: Multiple sclerosis (MS) is a complex disease resulting from the joint effect of many genes. It has been speculated that rare variants might explain part of the missing heritability of MS. OBJECTIVE: To identify rare coding genetic variants by analyzing a large MS pedigree with 11 affected individuals in several generations. METHODS: Genome-wide linkage screen and whole exome sequencing (WES) were performed to identify novel coding variants in the shared region(s) and in the known 110 MS risk loci...
June 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Yan Lu, Yu-Wei Da, Yong-Biao Zhang, Xin-Gang Li, Min Wang, Li Di, Mi Pang, Lin Lei
Hereditary inclusion body myopathy (HIBM) is a rare autosomal recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant and occurs in adulthood. Our previous study reported a new subtype of HIBM linked to the susceptibility locus at 7q22.1-31.1. The present study is aimed to identify the candidate gene responsible for the phenotype in HIBM pedigree. After multipoint linkage analysis, we performed targeted capture sequencing on 16 members and whole-exome sequencing (WES) on 5 members...
2018: Frontiers in Neuroscience
Giovana T Torrezan, Fernanda G Dos Santos R de Almeida, Márcia C P Figueiredo, Bruna D de Figueiredo Barros, Cláudia A A de Paula, Renan Valieris, Jorge E S de Souza, Rodrigo F Ramalho, Felipe C C da Silva, Elisa N Ferreira, Amanda F de Nóbrega, Paula S Felicio, Maria I Achatz, Sandro J de Souza, Edenir I Palmero, Dirce M Carraro
Pathogenic variants in known breast cancer (BC) predisposing genes explain only about 30% of Hereditary Breast Cancer (HBC) cases, whereas the underlying genetic factors for most families remain unknown. Here, we used whole-exome sequencing (WES) to identify genetic variants associated to HBC in 17 patients of Brazil with familial BC and negative for causal variants in major BC risk genes ( BRCA1/2, TP53 , and CHEK2 c.1100delC). First, we searched for rare variants in 27 known HBC genes and identified two patients harboring truncating pathogenic variants in ATM and BARD1 ...
2018: Frontiers in Genetics
Marina V Shulskaya, Anelya Kh Alieva, Ivan N Vlasov, Vladimir V Zyrin, Ekaterina Yu Fedotova, Natalia Yu Abramycheva, Tatiana S Usenko, Andrei F Yakimovsky, Anton K Emelyanov, Sofya N Pchelina, Sergei N Illarioshkin, Petr A Slominsky, Maria I Shadrina
Background : Parkinson's disease (PD) is a complex disease with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES) technology has been used successfully to find mutations in large families. However, because of the late onset of the disease, only small families and unrelated patients are usually available. WES conducted in such cases yields in a large number of candidate variants. There are currently a number of imperfect software tools that allow the pathogenicity of variants to be evaluated...
2018: Frontiers in Aging Neuroscience
Stephen P Kilgus, Wes E Bonifay, Nathaniel P von der Embse, Amanda N Allen, Katie Eklund
In accordance with an argument-based approach to validation, the purpose of the current study was to yield evidence relating to Social, Academic, and Emotional Behavior Risk Screener (SAEBRS) score interpretation. Bifactor item response theory analyses were performed to examine SAEBRS item functioning. Structural equation modeling (SEM) was used to simultaneously evaluate intra- and inter-scale relationships, expressed through (a) a measurement model specifying a bifactor structure to SAEBRS items, and (b) a structural model specifying convergent and discriminant relations with an outcome measure (i...
June 2018: Journal of School Psychology
Li Wang, Yong Feng, Denise Yan, Litao Qin, M'hamed Grati, Rahul Mittal, Tao Li, Abhiraami Kannan Sundhari, Yalan Liu, Prem Chapagain, Susan H Blanton, Shixiu Liao, Xuezhong Liu
Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent advances in technology, using targeted capture and next-generation sequencing (NGS), is changing the face of gene identification and making it possible to rapidly and cost-effectively sequence the whole human exome. Here, we characterize a five-generation Chinese family with progressive, postlingual autosomal dominant nonsyndromic hearing loss (ADNSHL)...
June 2, 2018: Human Genetics
Brian P Walcott, Ethan A Winkler, Sirui Zhou, Harjus Birk, Diana Guo, Matthew J Koch, Christopher J Stapleton, Dan Spiegelman, Alexandre Dionne-Laporte, Patrick A Dion, Kristopher T Kahle, Guy A Rouleau, Michael T Lawton
Brain arteriovenous malformations (AVMs) are abnormal connections between arteries and veins that can result in hemorrhagic stroke. A genetic basis for AVMs is suspected, and we investigated potential mutations in a 14-year-old girl who developed a recurrent brain AVM. Whole-exome sequencing (WES) of AVM lesion tissue and blood was performed accompanied by in silico modeling, protein expression observation in lesion tissue and zebrafish modeling. A stop-gain mutation (c.C739T:p.R247X) in the gene SMAD family member 9 ( SMAD9 ) was discovered...
2018: Human Genome Variation
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