Results 201 to 210 of about 254,836 (309)

New method for the simultaneous detection of punctual variations and copy number variants in monogenic obesity

, 2018
Mehdi Derhourhi
openalex   +1 more source

Promiscuous stimulation of HSP70 ATPase activity by parasite‐derived J‐domains

FEBS Open Bio, EarlyView.
The malaria parasite Plasmodium falciparum exports three highly homologous yet functionally divergent J‐domain proteins into human erythrocytes. Here, we show that J‐domains isolated from all three proteins effectively stimulate the ATPase activity of both endogenous host and exported parasite HSP70 chaperones.
Julian Barth, Moritz Koch, Le‐Han Rössner, Johanna Eichhorn, Denys Pogoryelov, Matthias P. Mayer, Jude M. Przyborski   +6 more
wiley   +1 more source

LncRNACNVIntegrateR: a novel framework for correlating long non-coding RNAs with copy number variation abnormalities and disease progression. [PDF]

PeerJ
Tyagi N, Roy S, Gupta D.
europepmc   +1 more source

Array-based comparative genomic hybridization detects copy number variations with prognostic relevance in 80% of ALL with normal karyotype or failed chromosome analysis [PDF]

, 2015
Verena Mühlbacher, Torsten Haferlach, Wolfgang Kern, Melanie Zenger, Susanne Schnittger, Claudia Haferlach   +5 more
openalex   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Cell cycle- and dose-dependent effects on mitochondrial DNA copy number variation following irradiation. [PDF]

J Cell Sci
Seino R, Nishikubo K, Fukunaga H.
europepmc   +1 more source

Genomic Diversity Using Copy Number Variations in Worldwide Chicken Populations

, 2018
Erica Gorla, Francesca Bertolini, Maria Giuseppina Strillacci, M.C. Cozzi, Sergio Iván Román-Ponce, Felipe Ruı́z, Vicente V. Vega, C.M.B. Dematawewa, Donald R. Kugonza, Ahmed Elbeltagy, Carl J. Schmid, Susan J. Lamont, A. Bagnato, Max F. Rothschild   +13 more
openalex   +2 more sources

28: Copy Number Variation Detection Using Next-Generation Sequencing [PDF]

, 2015
Linda B. Baughn, Getiria Onsongo, Matthew Bower, Christine Henzler, Kevin A.T. Silverstein, Bharat Thyagarajan   +5 more
openalex   +1 more source

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

Local gene duplications drive extensive NLR copy number variation across multiple genotypes of Theobroma cacao. [PDF]

G3 (Bethesda)
Winters NP, Wafula EK, Timilsena PR, Ralph PE, Maximova SN, dePamphilis CW, Guiltinan MJ, Marden JH.   +7 more
europepmc   +1 more source