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https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#1
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29751669/mapping-grain-iron-and-zinc-content-quantitative-trait-loci-in-an-iniadi-derived-immortal-population-of-pearl-millet
#2
Sushil Kumar, Charles Tom Hash, Thirunavukkarasu Nepolean, Mahesh D Mahendrakar, Chellapilla Tara Satyavathi, Govind Singh, Abhishek Rathore, Rattan S Yadav, Rajeev Gupta, Rakesh K Srivastava
Pearl millet is a climate-resilient nutritious crop requiring low inputs and is capable of giving economic returns in marginal agro-ecologies. In this study, we report large-effect iron (Fe) and zinc (Zn) content quantitative trait loci ( QTLs) using diversity array technology (DArT) and simple sequence repeats (SSRs) markers to generate a genetic linkage map using 317 recombinant inbred line (RIL) population derived from the (ICMS 8511-S1-17-2-1-1-B-P03 × AIMP 92901-S1-183-2-2-B-08) cross. The base map [seven linkage groups (LGs)] of 196 loci was 964...
May 11, 2018: Genes
https://www.readbyqxmd.com/read/29742505/the-col4a3-and-col4a4-digenic-mutations-in-cis-result-in-benign-familial-hematuria-in-a-large-chinese-family
#3
Ang Li, Ying-Xia Cui, Xing Lv, Jian-Hong Liu, Er-Zhi Gao, Xiu-Xiu Wei, Xin-Yi Xia, Chun-Lin Gao, Feng-Xia Liu, Zheng-Kun Xia, Asan, Zhi-Hong Liu, Xiao-Jun Li
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c...
May 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29691127/digenic-heterozigosity-in-scn5a-and-cacna1c-explains-the-variable-expressivity-of-the-long-qt-phenotype-in-a-spanish-family
#4
Paloma Nieto-Marín, Juan Jiménez-Jáimez, David Tinaquero, Silvia Alfayate, Raquel G Utrilla, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, Geòrgia Sarquella-Brugada, Lorenzo Monserrat, Josep Brugada, Luis Tercedor, Juan Tamargo, Eva Delpón, Ricardo Caballero
INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. METHODS: L-type calcium current (ICaL ) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p...
April 21, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29674565/systematic-analysis-of-complex-genetic-interactions
#5
Elena Kuzmin, Benjamin VanderSluis, Wen Wang, Guihong Tan, Raamesh Deshpande, Yiqun Chen, Matej Usaj, Attila Balint, Mojca Mattiazzi Usaj, Jolanda van Leeuwen, Elizabeth N Koch, Carles Pons, Andrius J Dagilis, Michael Pryszlak, Jason Zi Yang Wang, Julia Hanchard, Margot Riggi, Kaicong Xu, Hamed Heydari, Bryan-Joseph San Luis, Ermira Shuteriqi, Hongwei Zhu, Nydia Van Dyk, Sara Sharifpoor, Michael Costanzo, Robbie Loewith, Amy Caudy, Daniel Bolnick, Grant W Brown, Brenda J Andrews, Charles Boone, Chad L Myers
To systematically explore complex genetic interactions, we constructed ~200,000 yeast triple mutants and scored negative trigenic interactions. We selected double-mutant query genes across a broad spectrum of biological processes, spanning a range of quantitative features of the global digenic interaction network and tested for a genetic interaction with a third mutation. Trigenic interactions often occurred among functionally related genes, and essential genes were hubs on the trigenic network. Despite their functional enrichment, trigenic interactions tended to link genes in distant bioprocesses and displayed a weaker magnitude than digenic interactions...
April 20, 2018: Science
https://www.readbyqxmd.com/read/29665027/genetic-variant-spectrum-in-265-chinese-patients-with-hemophagocytic-lymphohistiocytosis-molecular-analyses-of-prf1-unc13d-stx11-stxbp2-sh2d1a-and-xiap
#6
X Chen, F Wang, Y Zhang, W Teng, M Wang, D Nie, X Zhou, D Wang, H Zhao, P Zhu, H Liu
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January 2010 to December 2016 were recruited and analyzed for the six genes. Genetic variants were observed in 87 (32.83%) patients. 36 (13.58%) exhibited variants in UNC13D, 18 (6.79%) exhibited PRF1 variants, 10 (3...
April 17, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29664054/limited-role-of-promoter-methylation-of-mgmt-and-c13orf18-in-triage-of-low-grade-squamous-intraepithelial-lesion
#7
Lu-Lu Sun, Yuan Liu, Xiao Sun, Lei Pan, Dan Wu, Yu-Dong Wang
Background: Promoter methylation of MGMT and C13ORF18 has been confirmed as a potential biomarker for early diagnosis of cervical cancer. The aim of this study was to evaluate the performance of MGMT and C13ORF18 promoter methylation for triage of cytology screening samples and explore the potential mechanism. Methods: Methylation-sensitive high-resolution melting was used to detect promoter methylation of MGMT and C13ORF18 in 124 cervical samples. High-risk human papillomavirus (HR-HPV) was detected by the Digene Hybrid Capture 2® ...
April 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29599744/myopathy-with-sqstm1-and-tia1-variants-clinical-and-pathological-features
#8
Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E Hamilton, Elie Naddaf, Eric Wieben, Ross A Aleff, Kristina Martens, Angela Gruber, Andrew G Engel, Gerald Pfeffer, Margherita Milone
Objective: The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies. Patients and methods: Clinical and laboratory data of three unrelated probands with predominantly distal weakness manifesting in the sixth-seventh decade of life, and available affected and unaffected family members were reviewed...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29584859/loss-of-function-mutations-in-fgf8-can-be-independent-risk-factors-for-holoprosencephaly
#9
Sungkook Hong, Ping Hu, Erich Roessler, Tommy Hu, Maximilian Muenke
The utilization of next generation sequencing has been shown to accelerate gene discovery in human disease. However, our confidence in the correct disease-associations of rare variants continues to depend on functional analysis. Here we employ a sensitive assay of human FGF8 variants in zebrafish to demonstrate that the spectrum of isoforms of FGF8 produced by alternative splicing can provide key insights into the genetic susceptibility to human malformations. In addition, we describe novel mutations in the FGF core structure that have both subtle and profound effects on ligand post-translational processing and biological activity...
March 23, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29573971/digenic-variants-of-planar-cell-polarity-genes-in-human-neural-tube-defect-patients
#10
Linlin Wang, Yanhui Xiao, Tian Tian, Lei Jin, Yunping Lei, Richard H Finnell, Aiguo Ren
Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire coding regions and intron-exon boundaries of targeted genes using DNA samples from 510 NTD cases. These candidate genes were PCP genes, including VANGL1, VANGL2, CELSR1, SCRIB, DVL2, DVL3 and PTK7...
March 18, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29569026/the-genetic-landscape-of-hypoplastic-left-heart-syndrome
#11
Hisato Yagi, Xiaoqin Liu, George C Gabriel, Yijen Wu, Kevin Peterson, Stephen A Murray, Bruce J Aronow, Lisa J Martin, D Woodrow Benson, Cecilia W Lo
Hypoplastic left heart syndrome (HLHS) is one of the most lethal congenital heart defects, and remains clinically challenging. While surgical palliation allows most HLHS patients to survive their critical heart disease with a single-ventricle physiology, many will suffer heart failure, requiring heart transplantation as the only therapeutic course. Current paradigm suggests HLHS is largely of hemodynamic origin, but recent findings from analysis of the first mouse model of HLHS showed intrinsic cardiomyocyte proliferation and differentiation defects underlying the left ventricular (LV) hypoplasia...
March 22, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29563141/monosomy-18p-is-a-risk-factor-for-facioscapulohumeral-dystrophy
#12
Judit Balog, Remko Goossens, Richard J L F Lemmers, Kirsten R Straasheijm, Patrick J van der Vliet, Anita van den Heuvel, Chiara Cambieri, Nicolas Capet, Léonard Feasson, Veronique Manel, Julian Contet, Marjolein Kriek, Colleen M Donlin-Smith, Claudia A L Ruivenkamp, Patricia Heard, Stephen J Tapscott, Jannine D Cody, Rabi Tawil, Sabrina Sacconi, Silvère M van der Maarel
BACKGROUND: 18p deletion syndrome is a rare disorder caused by partial or full monosomy of the short arm of chromosome 18. Clinical symptoms caused by 18p hemizygosity include cognitive impairment, mild facial dysmorphism, strabismus and ptosis. Among other genes, structural maintenance of chromosomes flexible hinge domain containing 1 ( SMCHD1 ) is hemizygous in most patients with 18p deletions. Digenic inheritance of a SMCHD1 mutation and a moderately sized D4Z4 repeat on a facioscapulohumeral muscular dystrophy (FSHD) permissive genetic background of chromosome 4 can cause FSHD type 2 (FSHD2)...
March 21, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29556035/functional-splicing-analysis-in-an-infantile-case-of-atypical-hemolytic-uremic-syndrome-caused-by-digenic-mutations-in-c3-and-mcp-genes
#13
Tomohiko Yamamura, Kandai Nozu, Hiroaki Ueda, Rika Fujimaru, Ryutaro Hisatomi, Yoko Yoshida, Hideki Kato, Masaomi Nangaku, Toshiyuki Miyata, Toshihiro Sawai, Shogo Minamikawa, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima
Pathogenic variants in specific complement-related genes lead to atypical hemolytic uremic syndrome (aHUS). Some reports have indicated that patients with digenic variants in these genes might present severer phenotypes. Upon detecting novel intronic variants, transcriptional analysis is necessary to prove pathogenicity; however, when intronic variants are located in intron 1 and, as a result, no transcript is produced, no appropriate method had been established to reveal the pathogenicity. Recently, the minigene assay was used to assess the pathogenicity of intronic variants...
March 19, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29514860/genetic-variance-partitioning-and-genome-wide-prediction-with-allele-dosage-information-in-autotetraploid-potato
#14
Jeffrey B Endelman, Cari A Schmitz Carley, Paul C Bethke, Joseph J Coombs, Mark E Clough, Washington L da Silva, Walter S De Jong, David S Douches, Curtis M Frederick, Kathleen G Haynes, David G Holm, J Creighton Miller, Patricio R Muñoz, Felix M Navarro, Richard G Novy, Jiwan P Palta, Gregory A Porter, Kyle T Rak, Vidyasagar R Sathuvalli, Asunta L Thompson, G Craig Yencho
As one of the world's most important food crops, the potato ( Solanum tuberosum L.) has spurred innovation in autotetraploid genetics, including in the use of SNP arrays to determine allele dosage at thousands of markers. By combining genotype and pedigree information with phenotype data for economically important traits, the objectives of this study were to (1) partition the genetic variance into additive vs. nonadditive components, and (2) determine the accuracy of genome-wide prediction. Between 2012 and 2017, a training population of 571 clones was evaluated for total yield, specific gravity, and chip fry color...
May 2018: Genetics
https://www.readbyqxmd.com/read/29497013/genetic-basis-of-channelopathies-and-cardiomyopathies-in-hong-kong-chinese-patients-a-10-year-regional-laboratory-experience
#15
C M Mak, S Pl Chen, N S Mok, W K Siu, H Hc Lee, C K Ching, P T Tsui, N C Fong, Y P Yuen, W T Poon, C Y Law, Y K Chong, Y W Chan, T C Yung, K Yy Fan, C W Lam
INTRODUCTION: Hereditary channelopathies and cardiomyopathies are potentially lethal and are clinically and genetically heterogeneous, involving at least 90 genes. Genetic testing can provide an accurate diagnosis, guide treatment, and enable cascade screening. The genetic basis among the Hong Kong Chinese population is largely unknown. We aimed to report on 28 unrelated patients with positive genetic findings detected from January 2006 to December 2015. METHODS: Sanger sequencing was performed for 28 unrelated patients with a clinical diagnosis of channelopathies or cardiomyopathies, testing for the following genes: KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A, for long QT syndrome; SCN5A for Brugada syndrome; RYR2 for catecholaminergic polymorphic ventricular tachycardia; MYH7 and MYBPC3 for hypertrophic cardiomyopathy; LMNA for dilated cardiomyopathy; and PKP2 and DSP for arrhythmogenic right ventricular dysplasia/cardiomyopathy...
March 2, 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/29483666/uncovering-the-genetic-lesions-underlying-the-most-severe-form-of-hirschsprung-disease-by-whole-genome-sequencing
#16
Clara Sm Tang, Xuehan Zhuang, Wai-Yee Lam, Elly Sau-Wai Ngan, Jacob Shujui Hsu, Y U Michelle, S O Man-Ting, Stacey S Cherny, Ngoc Diem Ngo, Pak C Sham, Paul Kh Tam, Maria-Mercè Garcia-Barcelo
Hirschsprung disease (HSCR) is a complex birth defect characterized by the lack of ganglion cells along a variable length of the distal intestine. A large proportion of HSCR patients remain genetically unexplained. We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadically affected with the most severe form of the disorder and harbor no coding sequence variants affecting the function of known HSCR genes. We found de novo protein-altering variants in three intolerant to change genes-CCT2, VASH1, and CYP26A1-for which a plausible link with the enteric nervous system (ENS) exists...
February 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29476821/assessing-complex-movement-behaviors-in-rodent-models-of-neurological-disorders
#17
Kenneth E McCarson, Michelle K Winter, Dale R Abrahamson, Nancy E Berman, Peter G Smith
Behavioral phenotyping is a crucial step in validating animal models of human disease. Most traditional behavioral analyses rely on investigator observation of animal subjects, which can be confounded by inter-observer variability, scoring consistency, and the ability to observe extremely rapid, small, or repetitive movements. Force-Plate Actimeter (FPA)-based assessments can quantify locomotor activity and detailed motor activity with an incredibly rich data stream that can reveal details of movement unobservable by the naked eye...
February 21, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29396589/a-new-leaf-rust-resistance-gene-lr79-mapped-in-chromosome-3bl-from-the-durum-wheat-landrace-aus26582
#18
Naeela Qureshi, Harbans Bariana, Vikas Venu Kumran, Sivasamy Muruga, Kerrie L Forrest, Mathew J Hayden, Urmil Bansal
A new leaf rust resistance gene Lr79 has been mapped in the long arm of chromosome 3B and a linked marker was identified for marker-assisted selection. Aus26582, a durum wheat landrace from the A. E. Watkins Collection, showed seedling resistance against durum-specific and common wheat-specific Puccinia triticina (Pt) pathotypes. Genetic analysis using a recombinant inbred line (RIL) population developed from a cross between Aus26582 and the susceptible parent Bansi with Australian Pt pathotype showed digenic inheritance and the underlying loci were temporarily named LrAW2 and LrAW3...
May 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/29395486/the-value-of-genetic-testing-in-polycystic-kidney-diseases-illustrated-by-a-family-with-pkd2-and-col4a1-mutations
#19
Emilie Cornec-Le Gall, Fouad T Chebib, Charles D Madsen, Sarah R Senum, Christina M Heyer, Brendan C Lanpher, Marc C Patterson, Robert C Albright, Alan S Yu, Vicente E Torres, Peter C Harris
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic disorders. Using targeted next-generation sequencing of 65 candidate genes in a patient with an ADPKD-like phenotype who lacked the familial PKD2 mutation, we identified a COL4A1 mutation (p...
January 27, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29385850/human-papilloma-virus-hpv-self-sampling-do-women-accept-it
#20
Nik Nairan Abdullah, Suzanna Daud, Seok Mui Wang, Zamalia Mahmud, Noor Kaslina Mohd Kornain, Waqar Al-Kubaisy
This study aims to determine the acceptability of Human Papilloma Virus (HPV) self-sampling and the factors associated with willingness to buy HPV self-sampling kit in the future. A total of 164 women aged 28-60 years old from Obstetrics & Gynaecology clinics at a teaching hospital performed HPV self-sampling using the Digene HC2 DNA collection kit. After samples were taken, the participants were given self-administered questionnaires. The majority of the participants were Malay (93.9%), had attained tertiary education (65...
April 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
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