Results 251 to 260 of about 1,025,592 (331)

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

Lepidopteran Genomes Have Denser Transposable Elements in Smaller Chromosomes, Likely Driven by Non-allelic Homologous Recombination. [PDF]

Genome Biol Evol
An H, Nam K.
europepmc   +1 more source

Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility

, 2003
Elena Bosch
openalex   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, EarlyView.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source

Molecular cytogenetic study on the scleractinian coral <i>Micromussaamakusensis</i> (Veron, 1990) (Hexacorallia, Anthozoa, Cnidaria): isolation of five fluorescence <i>in situ</i> hybridization markers. [PDF]

Comp Cytogenet
Baldove AB, Ito M, Taguchi T, Mezaki T, Saito H, Manalili SE, Namura Y, Nieves-Brutas IJ, Tominaga A, Kubota S.   +9 more
europepmc   +1 more source

Streptocyclin BTW is a novel member of a diverse family of circular bacteriocins in the genus Streptococcus

Molecular Nutrition &Food Research, EarlyView.
The graphical abstract highlights the five main outputs from the characterization of a novel circular bacteriocin from Streptococcus devriesei DSM 19639, streptocyclin BTW. The study expands the knowledge of the diversity of circular bacteriocins in the Streptococcus genus also the potential of these peptides for biotechnological applications ...
Felipe Miceli de Farias, David Hourigan, Paula M. O'Connor, Colin Hill, Reynolds Paul Ross   +4 more
wiley   +1 more source

Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping. [PDF]

Front Genet
Zhu X, Zheng H, Wan X, Duan H, Qi Y, Tang W, Yang F, Yu L.   +7 more
europepmc   +1 more source

Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole‐exome sequencing (WES) for genetic diagnosis.
Yan Lü, Yi Yu, Jiazhen Chang, Mengmeng Li, Xueting Yang, Xiya Zhou, Na Hao, Hua Meng, Zhenghong Li, Lishuang Ma, Hui You, Shan Jian, Ying Wang, Shengjie Li, Yiqing Yu, Kaili Yin, Mingming Wang, Yulin Jiang, Qingwei Qi   +18 more
wiley   +1 more source

SNP-based linkage mapping reveals novel quantitative trait loci for yield traits in noug (<i>Guizotia abyssinica</i> (L. f.) Cass.). [PDF]

Front Plant Sci
Gebeyehu A, Hammenhag C, Vetukuri RR, Ortiz R, Geleta M.   +4 more
europepmc   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source