Results 121 to 130 of about 159,772 (339)

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v2; ref status: indexed, http://f1000r.es/54y]

F1000Research, 2015
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha G. Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +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

Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection

Journal of Lipid Research, 1996
Cholesteryl ester transfer protein (CETP) deficiency is the most common cause of hyperalphalipoproteinemia in Japan. However, the genetic basis of this disorder has not been fully characterized. We have studied a 49-year-old Japanese male presenting with
N Sakai, S Santamarina-Fojo, S Yamashita, Y Matsuzawa, H.B Brewer, Jr   +4 more
doaj   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski).
Chih-Ping Chen, Tung-Yao Chang, Chen-Yu Chen, Tao-Yeuan Wang, Fuu-Jen Tsai, Pei-Chen Wu, Schu-Rern Chern, Wayseen Wang   +7 more
doaj   +1 more source

SERpredict: Detection of tissue- or tumor-specific isoforms generated through exonization of transposable elements [PDF]

, 2007
Background: Transposed elements (TEs) are known to affect transcriptomes, because either new exons are generated from intronic transposed elements (this is called exonization), or the element inserts into the exon, leading to a new transcript.
Ast, Gil, Mersch, Britta, Sela, Noa, Suhai, Sandor, Wagenblatt, Agnes Hotz-   +4 more
core   +3 more sources

RIG‐I Mediated Neuron‐Specific IFN Type 1 Signaling in FUS‐ALS Induces Neurodegeneration and Offers New Biomarker‐Driven Individualized Treatment Options for (FUS‐)ALS

Advanced Science, EarlyView.
Using iPSC‐derived motoneurons and postmortem tissue from FUS‐ALS patients, it is demonstrated that increased mitochondrial transcription leads to elevated cytosolic double‐stranded RNA (dsRNA) levels. This aberrant accumulation activates a RIG‐I–dependent innate immune response leading to neurodegeneration, which is amenable for FDA‐ and EMA‐approved ...
Marcel Naumann, Theresa M. Wierschin, Stefanie Kretschmer, Banaja P. Dash, Aaron Held, Andrea Salzinger, Kevin Peikert, Anže Karlek, Hannes Glaß, Dajana Großmann, René Günther, Susanne Petri, Annekathrin Rödiger, David Brenner, Francisco Pan‐Montojo, Eleonora Aronica, Markus Kipp, Vitaly Zimyanin, Jared Sterneckert, Torsten Grehl, Noah D. Seebacher, Tobias M. Böckers, Alberto Catanese, Brian J. Wainger, Patrick Oeckl, Min Ae Lee‐Kirsch, Andreas Hermann   +26 more
wiley   +1 more source

A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

Balkan Journal of Medical Genetics, 2019
Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with ...
Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D   +3 more
doaj   +1 more source

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point [PDF]

, 2015
Rachel Darman, Michael Seiler, Anant A. Agrawal, Kian‐Huat Lim, Shouyong Peng, Daniel Aird, Suzanna Bailey, Erica B. Bhavsar, Betty Chan, Simona Colla, Laura Corson, Jacob Feala, Peter Fekkes, Kana Ichikawa, Gregg F. Keaney, Linda Lee, Pavan Kumar, Kaiko Kunii, Crystal MacKenzie, Mark Matijevic, Yoshiharu Mizui, Khin Than Myint, Eun Sun Park, Xiaoling Puyang, Anand Selvaraj, Michael P. Thomas, Jennifer Tsai, John Y. Wang, Markus Warmuth, Hui Yang, Ping Zhu, Guillermo Garcia‐Manero, Richard R. Furman, Lihua Yu, Peter G. Smith, Silvia Buonamici   +35 more
openalex   +1 more source