Results 251 to 260 of about 6,585,062 (339)

Liver‐specific lncRNAs associated with liver cancers

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) are regulatory molecules with various functions. They are more tissue‐specific than proteins and can be used as potential biomarkers, particularly in cancer diagnostics and prognosis. In this review, we have systematically compiled all lncRNAs with exclusive expression in the human liver, verified their liver specificity ...
Olga Y. Burenina, Roman K. Makarchenko, Maria P. Rubtsova, Olga A. Dontsova   +3 more
wiley   +1 more source

The E3 ubiquitin ligase, RNF219, suppresses CNOT6L expression to exhibit antiproliferative activity

FEBS Open Bio, EarlyView.
We identified RNF219 as a CCR4‐NOT complex‐interacting E3 ubiquitin ligase that targets the CCR4‐NOT subunit CNOT6L for ubiquitination. RNF219 directly binds to the DUF3819 domain of CNOT1 through its putative α‐helix spanning amino acids 521–542. Our findings also suggest that antiproliferative activity of RNF219 is at least partially mediated by ...
Shou Soeda, Melissa Montrose, Akinori Takahashi, Risa Ishida, Sandrine Burriel, Nao Ohmine, Tohru Natsume, Shungo Adachi, Minsoo Kim, Tadashi Yamamoto   +9 more
wiley   +1 more source

A germline point mutation in the MYC-FBW7 phosphodegron initiates hematopoietic malignancies. [PDF]

Genes Dev
Freie B, Carroll PA, Varnum-Finney BJ, Ramsey EL, Ramani V, Bernstein I, Eisenman RN.   +6 more
europepmc   +1 more source

NMR screening of low molecular weight inhibitors targeting the papain‐like protease (PLPro) of SARS‐CoV‐2

FEBS Open Bio, EarlyView.
Papain‐like protease from SARS‐CoV‐2 plays an important role in the cleavage of the viral polyproteins and in the suppression of the host's immune response. Here, we present the results of an NMR screening study. We identified 86 binding compounds, of which five candidates were chosen for in‐depth analysis.
Dennis J. Pyper, Sridhar Sreeramulu, Benjamin T. Lanham, Elizabeth M. Engle, David Fushman, Harald Schwalbe   +5 more
wiley   +1 more source

Assessing the reliability of point mutation as data augmentation for deep learning with genomic data. [PDF]

BMC Bioinformatics
Lee H, Ozbulak U, Park H, Depuydt S, De Neve W, Vankerschaver J.   +5 more
europepmc   +1 more source

cDNA cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function

, 1992
Chul Min Kim, J L Goldstein, Michael S. Brown   +2 more
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice. [PDF]

Int J Mol Sci
Snider PL, Sierra Potchanant EA, Sun Z, Edwards DM, Chan KK, Matias C, Awata J, Sheth A, Pride PM, Payne RM, Rubart M, Brault JJ, Chin MT, Nalepa G, Conway SJ.   +14 more
europepmc   +1 more source

Evolution of sequence specificity in a restriction endonuclease by a point mutation

Proceedings of the National Academy of Sciences of the United States of America, 2008
M. Saravanan, K. Vasu, V. Nagaraja
semanticscholar   +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki, Masanori Kurihara, Kenji Ishibashi, Aya Midori Tokumaru, Kenji Ishii, Atsushi Iwata   +5 more
wiley   +1 more source