Results 331 to 340 of about 1,043,746 (362)

LINC00323 variant is associated with increased risk of essential tremor

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan, Ebonne Ng, Qiao Yang Sun, Aaron Mai, Ling‐Ling Chan, Thomas Welton, Kumar M. Prakash, Kay Yaw Tay, Wing Lok Au, Louis C.S. Tan, Eng‐King Tan, Bin Xiao   +11 more
wiley   +1 more source

Programming anti-ribozymes to sense trigger RNAs for modulating gene expression in mammalian cells. [PDF]

Synth Syst Biotechnol
Zhang W, Zhao S, Wang M, Lou C, Xiang Y, Wu Q.   +5 more
europepmc   +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

Benchmarking the methods for predicting base pairs in RNA-RNA interactions. [PDF]

Bioinformatics
Lang M, Litfin T, Chen K, Zhan J, Zhou Y.   +4 more
europepmc   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Non-Coding RNAs in Diagnostic Pathology of High-Grade Central Osteosarcoma. [PDF]

Diagnostics (Basel)
Roessner A, Franke S, Schreier J, Ullmann SR, Karras FS.   +4 more
europepmc   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Different RNA recognition by ProQ and FinO depends on the sequence surrounding intrinsic terminator hairpins. [PDF]

RNA
Mamońska MD, Basczok MM, Stein EM, Kurzawska J, Olejniczak M.   +4 more
europepmc   +1 more source

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source

Profiling chimeric RNA in prostate cancer in Chinese cohorts reveals similarities and differences compared to Western populations. [PDF]

Imeta
Wang Q, Yu S, Jie J, Elfman J, Xiong Z, Singh S, Lalani S, Wang Y, Li K, Cheng B, Gao Z, Gao X, Li H, Huang H.   +13 more
europepmc   +1 more source