Results 171 to 180 of about 130,329 (268)

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Genome-Wide identification and expression analysis revealed the potential role of CHS gene family responding to atmospheric pressure stress in Saussurea involucrata. [PDF]

BMC Plant Biol
Qi J, Gao S, Ji Z, Yue X, Guo H, Luo J, Liu R, Zhao Y, Wang H, Cao M, Guo W, Luo J, Han C, Sun C, Gao B, Xv C, Fu Y, He W, Zhou G, Guo B.   +19 more
europepmc   +1 more source

Friends or foes? Polyploidy and competition in a grassland geophyte

Oikos, EarlyView.
Previous studies have suggested polyploids may possess a competitive advantage over diploids, due to their larger size, increased vigour or ability to better respond to abiotic stress. However, few studies have tested the effect of polyploidy on competitive ability directly, and only relatively recently has this oversight begun to be addressed. Here we
Damian Vaz de Sousa, Michelle Greve, Nicolette J. Taylor, Kenneth C. Oberlander   +3 more
wiley   +1 more source

Identification, characterization, and expression analysis of WRKY transcription factors in <i>Gynostemma pentaphyllum</i> during tissue growth and cadmium stress. [PDF]

Front Plant Sci
Zhou Y, Yao L, Lu H, Xiong Z, Li X, Yu L, Pan C.   +6 more
europepmc   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

An ancient genome duplication event drives the development and evolution of spinnerets in spiders. [PDF]

Sci Adv
Li F, Yang H, Zhang Y, Wang S, Gu Q, Wu M, Jin P, Huang X, Zhong Y, Huang X, Lin Y, Guo X, Li Y, Zhang W, Li S.   +14 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

International Journal of Women's Health
Guiyuan He,1,* Xi Wang,1,* Beiqing Li,1 Lei Wang,1 Jing Zhang,2 Yang Shi,1 Wenxiu Zhu,1 Ming Shi1,3 1Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of China; 2Department of ...
He G, Wang X, Li B, Wang L, Zhang J, Shi Y, Zhu W, Shi M   +7 more
doaj  

PoolSeq Genome-Wide Association Studies and Microbial Signature Analyses Identify Novel Candidates Associated With Pyrethroid Resistance Evolution in Anopheles funestus in Cameroon. [PDF]

Mol Ecol
Gadji M, Kengne-Ouafo JA, Tchouakui M, Wondji MJ, Mugenzi LMJ, Hearn J, Onana B, Wondji CS.   +7 more
europepmc   +1 more source

Speciation with gene flow

PLANTS, PEOPLE, PLANET, EarlyView.
Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long, Xu Zhang, Yue Yu, Gregory L. Owens, Diana J. Rennison, Clarisse Palma‐Silva, Daniel Ortiz‐Barrientos, Loren H. Rieseberg   +7 more
wiley   +1 more source