Results 151 to 160 of about 540,064 (337)

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

The complete mitochondrial genome of Gryposmylus pennyi (Neuroptera: Osmylidae) [PDF]

, 2019
Xu Han, Fan Song, Zhiqi Liu
openalex   +1 more source

Massive migration from the steppe is a source for Indo-European languages in Europe

, 2015
We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost four hundred thousand polymorphisms. Enrichment of these positions decreases the sequencing required for
A Keller, A Seguin-Orlando, Alan Cooper, Aleksandr Khokhlov, Alissa Mittnik, Anna Szécsényi-Nagy, AW Briggs, AW Briggs, Bastien Llamas, C Der Sarkissian, C Gamba, C Renfrew, Christina Roth, Christos Economou, D Reich, David Anthony, David Reich, DH Alexander, DH Alexander, DM Behar, Dorcas Brown, DW Anthony, Eadaoin Harney, Eszter Bánffy, Fredrik Hallgren, G Brandt, G Hellenthal, Guido Brandt, H Li, Harald Meller, I Lazaridis, I Olalde, Iosif Lazaridis, J Czebreszuk, Joachim Wahl, Johannes Krause, JP Mallory, Kristin Stewardson, Kurt Werner Alt, M Kircher, M Lipson, M Meyer, M Raghavan, Manuel A. Rojo Guerra, Matthias Meyer, Michael Francken, Michael Kunst, N Patterson, N Rohland, N Rohland, N Rohland, Nadin Rohland, Nick Patterson, Nicole Nicklisch, NM Myres, Oleg Mochalov, P Bellwood, P Ralph, P Skoglund, P Skoglund, P Skoglund, PA Underhill, Pavel Kuznetsov, Q Fu, Q Fu, Q Fu, Qiaomei Fu, Rafael Garrido Pena, RE Green, Roberto Risch, S Purcell, S Sawyer, Sandra L. Pichler, Susanne Friederich, Susanne Nordenfelt, Swapan Mallick, T Lassmann, TV Gamkrelidze, Valery Khartanovich, Vayacheslav Moiseyev, W Haak, Wolfgang Haak   +81 more
core   +2 more sources

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Role of the Mitochondrial Genome During Early Development in Mice [PDF]

, 1973
The role of the mitochondrial genome in early development and differentiation was studied in mouse embryos cultured in vitro from the two to four cell stage to the blastocyst (about 100 cells).
Chase, David G., Pikó, Lajos
core  

Genomic insights and phylogenetics of the mitochondrial genome of Cryptocarya

Genomics
The tropical genus Cryptocarya is known for its valuable timber and the constituents in these trees show potential for medicinal properties. However, the phylogenetic relationships among species in Asia remain unclear. Here, we report the first mitochondrial genome for Cryptocarya kwangtungensis, consisting of 758,020 bp, including 43 protein-coding ...
Jiepeng, Huang, Di, Zhang, Shiting, Yang, Yanyu, Liu, Jurong, Ma, Maojuan, Zhou, Yunhong, Tan, Yu, Song   +7 more
openaire   +2 more sources

Multi‐Omics Integration for Advancing Glioma Precision Medicine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia, Valentina La Cognata, Giulia Gentile, Giovanna Morello, Sebastiano Cavallaro   +4 more
wiley   +1 more source

The complete mitochondrial genome ofFlavoperla biocellataChu, 1929 (Plecoptera: Perlidae) and the phylogenetic analyses of Plecoptera

, 2020
Yue Shen, Yu-Zhou Du
openalex   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source