Results 91 to 100 of about 71,371 (293)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Design of GLP-1 analogues (A), pentameric GLP-1 (B) and expression cassettes for 5×GLP-1 delivery by L. paracasei (C).

, 2016
SP, signal peptide; RBS, ribosomal binding site; P, apf promoter; C-ter: C-terminal part of APF gene; prtP anchor translational stop codon (indicated with an arrowhead) and the transcription terminator (indicated with a lollipop).
Kasper Krogh-Andersen (3112005), Harold Marcotte (35624), Julien Pelletier (250504), Claes-Göran Östenson (46420), Lennart Hammarström (35623), Yin Lin (421396)   +5 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Additional file 5: Table S4. of TSS-EMOTE, a refined protocol for a more complete and less biased global mapping of transcription start sites in bacterial pathogens

, 2016
Predicted operon structure based on TSS-EMOTE experimental data and in silico transcription terminator finding. Note that this table includes two sheets for A. baumannii, corresponding to two published reference genomes (ATCC 17978, and ATCC 17978-mff). (
Julien Prados (743297), Patrick Linder (7345), Peter Redder (528225)   +2 more
core   +1 more source

Development of a novel vector for cloning and expressing extremely toxic genes in Escherichia coli

Electronic Journal of Biotechnology, 2017
Background: Escherichia coli has been widely used as a host to clone and express heterologous genes. However, there are few vectors available for cloning and expressing extremely toxic genes, which limits further basic and applied research on extremely ...
Hedan Li, Chengwei Hao, Daqing Xu
doaj   +1 more source

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

An investigation of the potential for epigenetic inactivation by transcription read-through in a sporadic colorectal cancer

, 2016
© 2016 Elsevier B.V. Aberrant transcription read-through of a gene promoter as a result of genetic structural rearrangements can cause the epigenetic inactivation of a neighbouring gene.
Hesson, Luke B., Wong, Jason W.H., Ludwig, Anne K., Srivastava, Sameer   +3 more
core   +1 more source

Glucose Deprivation‐Driven Concurrent Induction of Apoptosis/Disulfidptosis/Ferroptosis by Tumor Targeting Nanoassemblies in Triple‐Negative Breast Cancer Therapy

Advanced Functional Materials, EarlyView.
Innovative hybrid nanoassemblies installed with ferrocene, D‐α‐tocopherol succinate, and phloretin exploit the metabolic vulnerability of triple‐negative breast cancer under glucose starvation. By blocking glucose uptake, this single nanoplatform simultaneously orchestrates apoptosis, disulfidptosis, and ferroptosis to achieve synergistic and ...
Song Yi Lee, ChaeRim Hwang, Seong Eun Kim, Mrinmoy Karmakar, Seo Jin Jung, Hyeonseok Jang, Hae‐In Kim, Heejung Yang, Junmin Lee, Dae‐Duk Kim, Hyun‐Jong Cho   +10 more
wiley   +1 more source

Transcription mediated insulation and interference direct gene cluster expression switches

eLife, 2014
In yeast, many tandemly arranged genes show peak expression in different phases of the metabolic cycle (YMC) or in different carbon sources, indicative of regulation by a bi-modal switch, but it is not clear how these switches are controlled.
Tania Nguyen, Harry Fischl, Françoise S Howe, Ronja Woloszczuk, Ana Serra Barros, Zhenyu Xu, David Brown, Struan C Murray, Simon Haenni, James M Halstead, Leigh O'Connor, Gergana Shipkovenska, Lars M Steinmetz, Jane Mellor   +13 more
doaj   +1 more source

Transcription termination and polyadenylation in retroviruses

Microbiological Reviews, 1993
The provirus structure of retroviruses is bracketed by long terminal repeats (LTRs). The two LTRs (5' and 3') are identical in nucleotide sequence and organization. They contain signals for transcription initiation as well as termination and cleavage polyadenylation. As in eukaryotic pre-mRNAs, the two common signals, the polyadenylation signal, AAUAAA,
openaire   +2 more sources