Results 151 to 160 of about 194,605 (341)

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

FEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki, Chika Tomisawa, Soichiro Hoshino, Hidehiko Shimizu, Masashi Abe, Sho Arai, Kanako Kuwasako, Naoki Asakawa, Yusuke Inoue, Takuro Horii, Izuho Hatada, Masakatsu Watanabe   +11 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Design, synthesis, and screening of an RNA optimized fluorinated fragment library

SLAS Discovery
Fragment-based screening is an efficient method for early-stage drug discovery. In this study, we aimed to create a fragment library optimized for producing high hit rates against RNA targets. RNA has historically been an underexplored target, but recent
Kasper P. Lundquist, Isabella Romeo, Raffaele B. Puglielli, Maëlle Pestalozzi, Marie L. Gram, Emily S. Hudson, Ofri Levi, Yoav S. Arava, Charlotte H. Gotfredsen, Mads H. Clausen   +9 more
doaj  

Whole‐Blood RNA Sequencing Profiling of Patients With Rheumatoid Arthritis Treated With Tofacitinib

ACR Open Rheumatology, EarlyView.
Objective Patients with rheumatoid arthritis (RA) often fail to respond to therapies, including JAK inhibitors (JAKi), and treatment allocation is made via a trial‐and‐error strategy. A comprehensive analysis of responses to JAKi, including tofacitinib, by RNA sequencing (RNAseq) would allow the discovery of transcriptomic markers with a two‐fold ...
Chiara Bellocchi, Ennio Giulio Favalli, Gabriella Maioli, Elena Agape, Marzia Rossato, Matteo Paini, Adriana Severino, Barbara Vigone, Martina Biggioggero, Elena Trombetta, Roberto Caporali, Lorenzo Beretta   +11 more
wiley   +1 more source

Applying Tandem Mass Spectral Libraries for Solving the Critical Assessment of Small Molecule Identification (CASMI) LC/MS Challenge 2012 [PDF]

, 2013
Herbert Oberacher
openalex   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source

Faculty Opinions recommendation of DNA display II. Genetic manipulation of combinatorial chemistry libraries for small-molecule evolution.

, 2004
Burckhard Seelig
openalex   +1 more source

Libraries of Small Organic Molecules [PDF]

, 2013

openalex   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

Advanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez, Nicolás Alcaraz, Karla Torres‐Arciga, José Antonio Ocampo‐Cervantes, Alejandra Cervera, Clementina Castro‐Hernández, Cynthia Gabriela Sámano‐Salazar, Ernesto Soto‐Reyes, Rodrigo González‐Barrios   +8 more
wiley   +1 more source