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Feifei Xiao, Guoshuai Cai, Heping Zhang
In early 2015, the debate of blue-black and white-gold color perception from "the dress" became an overnight internet phenomenon. According to the vote from the online social network Twitter, more people observed white-gold colors than those who observed blue-black colors. Biological explanations have been proposed by neurologist and other scientists, most of which mainly focus on the bias of color perception from visual cortex assuming different illuminants as backgrounds. The goal of this study was to investigate the genetic reason that might be underlying this phenomenon...
2016: PloS One
Kengo Hirota, Hiroyuki Akagawa, Asami Kikuchi, Hideki Oka, Akihiko Hino, Tetsuryu Mitsuyama, Toshiyuki Sasaki, Hideaki Onda, Takakazu Kawamata, Hidetoshi Kasuya
Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing...
2016: Human Genome Variation
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Narai, John R Heckenlively, Kelly A Frazar, Paul A Sieving, Radha Ayyagari
While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of inherited retinal degeneration (IRD) in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and review of medical and family history was performed. WGS was performed on affected and unaffected family members using Illumina HiSeq X10...
October 7, 2016: Physiological Genomics
Priya Moorjani, Ziyue Gao, Molly Przeworski
Our understanding of the chronology of human evolution relies on the "molecular clock" provided by the steady accumulation of substitutions on an evolutionary lineage. Recent analyses of human pedigrees have called this understanding into question by revealing unexpectedly low germline mutation rates, which imply that substitutions accrue more slowly than previously believed. Translating mutation rates estimated from pedigrees into substitution rates is not as straightforward as it may seem, however. We dissect the steps involved, emphasizing that dating evolutionary events requires not "a mutation rate" but a precise characterization of how mutations accumulate in development in males and females-knowledge that remains elusive...
October 2016: PLoS Biology
Immacolata Andolfo, Roberta Russo, Antonella Gambale, Achille Iolascon
After the first proposed model of the red blood cell membrane skeleton 36 years ago, several additional proteins have been discovered during the overriding years, and their relationship with the pathogenesis of the related disorders have been somewhat defined. The knowledge of erythrocyte membrane structure is important because it represents the model for spectrin-based membrane skeletons in all cells and because defects in its structure underlie multiple hemolytic anemias. This review summarized the main features of erythrocyte membrane disorders, dividing them in structural and altered permeability defects, particularly focusing on the most recent advances...
October 18, 2016: Haematologica
Nathan R Tucker, Saagar Mahida, Jiangchuan Ye, Elizabeth J Abraham, Julie A Mina, Victoria A Parsons, Michael A McLellan, Marisa A Shea, Alan Hanley, Emelia J Benjamin, David J Milan, Honghuang Lin, Patrick T Ellinor
BACKGROUND: The genetic basis of atrial fibrillation (AF) and congenital heart disease remains incompletely understood. OBJECTIVE: We sought to determine the causative mutation in a family with AF, atrial septal and ventricular septal defects. METHODS: We evaluated a pedigree with 16 family members, one with an atrial septal defect, one with a ventricular septal defect and three with AF; we performed whole exome sequencing in three affected family members...
October 15, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Jin S Xiong, Steven E McKeand, Fikret Isik, Jill Wegrzyn, David B Neale, Zhao-Bang Zeng, Luciano da Costa E Silva, Ross W Whetten
BACKGROUND: The use of wood as an industrial raw material has led to development of plantation forestry, in which trees are planted, managed, and harvested as crops. The productivity of such plantations often exceeds that of less-intensively-managed forests, and land managers have the option of choosing specific planting stock to produce specific types of wood for industrial use. Stem forking, or division of the stem into two or more stems of roughly equal size, is a character trait important in determining the quality of the stem for production of solid wood products...
October 18, 2016: BMC Genetics
Jonathan Sandoval-Castillo, Catherine R M Attard, Shashikanth Marri, Chris J Brauer, Luciana M Möller, Luciano B Beheregaray
Captive breeding programs are often a necessity for the continued persistence of a population or species. They typically have the goal of maintaining genetic diversity and minimizing inbreeding. However, most captive breeding programs have been based on the assumption that the founding breeders are unrelated and outbred, even though in situ anthropogenic impacts often mean these founders may have high relatedness and substantial inbreeding. In addition, polygamous group-breeding species in captivity often have uncertain pedigrees, making it difficult to select the group composition for subsequent breeding...
October 18, 2016: Molecular Ecology Resources
Yu-Chun Pan, Yang Liu, Wei-Qing Wu, Jian-Sheng Xie
OBJECTIVE: To study gene mutations in four pedigrees with methymalonic aciduria, as well as the feasibility of prenatal diagnosis of methymalonic aciduria. METHODS: High-throughput sequencing was performed for related genes in the peripheral blood of children or parents who were diagnosed with methymalonic aciduria to identify the loci with mutations. Then amplification primers were designed for each locus, and PCR and direct sequencing were performed to validate the sequencing in the first generation in the four pedigrees...
October 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Michael P Heaton, Timothy P L Smith, Jacky K Carnahan, Veronica Basnayake, Jiansheng Qiu, Barry Simpson, Theodore S Kalbfleisch
The availability of whole genome sequence (WGS) data has made it possible to discover protein variants in silico. However, existing bovine WGS databases do not show data in a form conducive to protein variant analysis, and tend to under represent the breadth of genetic diversity in U.S. beef cattle. Thus, our first aim was to use 96 beef sires, sharing minimal pedigree relationships, to create a searchable and publicly viewable set of mapped genomes relevant for 19 popular breeds of U.S. cattle. Our second aim was to identify protein variants encoded by the bovine endothelial PAS domain-containing protein 1 gene ( EPAS1), a gene associated with high-altitude pulmonary hypertension in Angus cattle...
2016: F1000Research
Karen Hodgson, Russell A Poldrack, Joanne E Curran, Emma E Knowles, Samuel Mathias, Harald Hh Göring, Nailin Yao, Rene L Olvera, Peter T Fox, Laura Almasy, Ravi Duggirala, Deanna M Barch, John Blangero, David C Glahn
Head movements are typically viewed as a nuisance to functional magnetic resonance imaging (fMRI) analysis, and are particularly problematic for resting state fMRI. However, there is growing evidence that head motion is a behavioral trait with neural and genetic underpinnings. Using data from a large randomly ascertained extended pedigree sample of Mexican Americans (n = 689), we modeled the genetic structure of head motion during resting state fMRI and its relation to 48 other demographic and behavioral phenotypes...
October 15, 2016: Cerebral Cortex
Rivka R Colen, Islam Hassan, Nabil Elshafeey, Pascal O Zinn
The new World Health Organization classification of brain tumors depends on combining the histologic light microscopy features of central nervous system (CNS) tumors with canonical genetic alterations. This integrated diagnosis is redrawing the pedigree chart of brain tumors with rearrangement of tumor groups on the basis of geno-phenotypical behaviors into meaningful groups. Multiple radiogenomic studies provide a bridge between imaging features and tumor microenvironment. An overlap that can be integrated within the genophenotypical classification of CNS tumors for a better understanding of different clinically relevant entities...
November 2016: Magnetic Resonance Imaging Clinics of North America
Bing Lin, Xue-Bi Cai, Zhi-Li Zheng, Xiu-Feng Huang, Xiao-Ling Liu, Jia Qu, Zi-Bing Jin
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lipofuscin-like substance in the retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe the clinical and genetic features of Stargardt patients from four unrelated Chinese cohorts...
October 14, 2016: Scientific Reports
Tulio Guadalupe, Samuel R Mathias, Theo G M vanErp, Christopher D Whelan, Marcel P Zwiers, Yoshinari Abe, Lucija Abramovic, Ingrid Agartz, Ole A Andreassen, Alejandro Arias-Vásquez, Benjamin S Aribisala, Nicola J Armstrong, Volker Arolt, Eric Artiges, Rosa Ayesa-Arriola, Vatche G Baboyan, Tobias Banaschewski, Gareth Barker, Mark E Bastin, Bernhard T Baune, John Blangero, Arun L W Bokde, Premika S W Boedhoe, Anushree Bose, Silvia Brem, Henry Brodaty, Uli Bromberg, Samantha Brooks, Christian Büchel, Jan Buitelaar, Vince D Calhoun, Dara M Cannon, Anna Cattrell, Yuqi Cheng, Patricia J Conrod, Annette Conzelmann, Aiden Corvin, Benedicto Crespo-Facorro, Fabrice Crivello, Udo Dannlowski, Greig I de Zubicaray, Sonja M C de Zwarte, Ian J Deary, Sylvane Desrivières, Nhat Trung Doan, Gary Donohoe, Erlend S Dørum, Stefan Ehrlich, Thomas Espeseth, Guillén Fernández, Herta Flor, Jean-Paul Fouche, Vincent Frouin, Masaki Fukunaga, Jürgen Gallinat, Hugh Garavan, Michael Gill, Andrea Gonzalez Suarez, Penny Gowland, Hans J Grabe, Dominik Grotegerd, Oliver Gruber, Saskia Hagenaars, Ryota Hashimoto, Tobias U Hauser, Andreas Heinz, Derrek P Hibar, Pieter J Hoekstra, Martine Hoogman, Fleur M Howells, Hao Hu, Hilleke E Hulshoff Pol, Chaim Huyser, Bernd Ittermann, Neda Jahanshad, Erik G Jönsson, Sarah Jurk, Rene S Kahn, Sinead Kelly, Bernd Kraemer, Harald Kugel, Jun Soo Kwon, Herve Lemaitre, Klaus-Peter Lesch, Christine Lochner, Michelle Luciano, Andre F Marquand, Nicholas G Martin, Ignacio Martínez-Zalacaín, Jean-Luc Martinot, David Mataix-Cols, Karen Mather, Colm McDonald, Katie L McMahon, Sarah E Medland, José M Menchón, Derek W Morris, Omar Mothersill, Susana Munoz Maniega, Benson Mwangi, Takashi Nakamae, Tomohiro Nakao, Janardhanan C Narayanaswaamy, Frauke Nees, Jan E Nordvik, A Marten H Onnink, Nils Opel, Roel Ophoff, Marie-Laure Paillère Martinot, Dimitri Papadopoulos Orfanos, Paul Pauli, Tomáš Paus, Luise Poustka, Janardhan Yc Reddy, Miguel E Renteria, Roberto Roiz-Santiáñez, Annerine Roos, Natalie A Royle, Perminder Sachdev, Pascual Sánchez-Juan, Lianne Schmaal, Gunter Schumann, Elena Shumskaya, Michael N Smolka, Jair C Soares, Carles Soriano-Mas, Dan J Stein, Lachlan T Strike, Roberto Toro, Jessica A Turner, Nathalie Tzourio-Mazoyer, Anne Uhlmann, Maria Valdés Hernández, Odile A van den Heuvel, Dennis van der Meer, Neeltje E M van Haren, Dick J Veltman, Ganesan Venkatasubramanian, Nora C Vetter, Daniella Vuletic, Susanne Walitza, Henrik Walter, Esther Walton, Zhen Wang, Joanna Wardlaw, Wei Wen, Lars T Westlye, Robert Whelan, Katharina Wittfeld, Thomas Wolfers, Margaret J Wright, Jian Xu, Xiufeng Xu, Je-Yeon Yun, JingJing Zhao, Barbara Franke, Paul M Thompson, David C Glahn, Bernard Mazoyer, Simon E Fisher, Clyde Francks
The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen...
October 13, 2016: Brain Imaging and Behavior
Hatasu Kobayashi, Miroslav Brozman, Kateřina Kyselová, Daša Viszlayová, Takaaki Morimoto, Martin Roubec, David Školoudík, Andrea Petrovičová, Dominik Juskanič, Jozef Strauss, Marián Halaj, Peter Kurray, Marián Hranai, Kouji H Harada, Sumiko Inoue, Yukako Yoshida, Toshiyuki Habu, Roman Herzig, Shohab Youssefian, Akio Koizumi
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) variant is a founder polymorphism that is strongly associated with moyamoya disease in East Asia. Many non-p.R4810K rare variants of RNF213 have been identified in white moyamoya disease patients, although the ethnic mutations have not been investigated in this population. In the present study, we screened for RNF213 variants in 19 Slovakian and Czech moyamoya disease patients...
2016: PloS One
Harvy Mauricio Velasco, Yasmin Sanchez, Angela Milena Martin, Luis A Umaña
Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder characterized by impairment in the degradation of Heparan sulfate. Here the authors describe the natural history of 5 related individuals; all associated through a large pedigree which reports a total of 11 affected members, originally from the Boyacá region in Colombia, diagnosed with MPS IIIC who all harbor a novel mutation in HGSNAT The authors report an unusually high incidence of the disease in this population. The clinical features are similar to previously described patients, although some differences in the degree of severity and end-stage of the disease are seen in this specific group...
October 12, 2016: Journal of Child Neurology
Matthew E Wolak, Jane M Reid
1.Quantifying and predicting microevolutionary responses to environmental change requires unbiased estimation of quantitative genetic parameters in wild populations. 'Animal models', which utilise pedigree data to separate genetic and environmental effects on phenotypes, provide powerful means to estimate key parameters and have revolutionised quantitative genetic analyses of wild populations. 2.However, pedigrees collected in wild populations commonly contain many individuals with unknown parents. When unknown parents are non-randomly associated with genetic values for focal traits, animal model parameter estimates can be severely biased...
October 12, 2016: Journal of Animal Ecology
D J Kemp, F E Thomson, W Edwards, I Iturbe-Ormaetxe
Theory predicts unified sex ratios for most organisms, yet biases may be engendered by selfish genetic elements such as endosymbionts that kill or feminize individuals with male genotypes. Although rare, feminization is established for Wolbachia-infected Eurema butterflies. This paradigm is presently confined to islands in the southern Japanese archipelago, where feminized phenotypes produce viable all-daughter broods. Here, we characterize sex bias for E. hecabe in continental Australia. Starting with 186 wild-caught females, we reared >6000 F1-F3 progeny in pedigree designs that incorporated selective antibiotic treatments...
October 12, 2016: Heredity
Laura Borrello, Chiara Cupidi, Valentina Laganà, Maria Anfossi, Maria Elena Conidi, Nicoletta Smirne, Maria Taverniti, Roberto Guarasci, Amalia Cecilia Bruni
The rebuilding of the N family, a large Italian kindred affected by early-onset autosomal dominant Alzheimer's disease (AD), provided an important contribution to the discovery of Presenilin 1 (PSEN1), the main gene responsible for familial AD. This pedigree was identified with the help of medical records from the archives of the Psychiatric Hospital of Girifalco, Italy. The clinical record of Angela R., an ancestor of the N family, dating back to 1904, showed a clinical picture of Angela R., consistent with a diagnosis of non-amnestic probable AD, matching the "dysexecutive" phenotype described in her descendants...
October 11, 2016: Journal of Neurology
Bongsong Kim, William D Beavis, Jens Léon
We present the generalized numerator relationship matrix (GNRM) algorithm and Numericware N as a software tool for calculating the numerator relationship matrix (NRM). The GNRM algorithm aims to build the NRM based on plant pedigrees. Customary plant pedigrees have a sparse format representing multiple ancestors and offspring. Applying the existing NRM algorithm to plant pedigrees requires transforming the pedigree statements from sparse (multi-founders to offspring) to dense (bi-parents to offspring). The GNRM algorithm enables the computation of the NRM using sparse pedigrees...
2016: Journal of Heredity
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