Results 161 to 170 of about 394,012 (302)

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, EarlyView.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Conserved +1 translational frameshifting in the Saccharomyces cerevisiae gene encoding YPL034W. [PDF]

J Biol Chem
Ivanov IP, Gaikwad S, Shin BS, Hinnebusch AG, Dever TE.   +4 more
europepmc   +1 more source

Structural and phylogenetic analyses of umbravirus and umbra-like virus genomes suggest evolution of capsid-like proteins from 30K movement proteins. [PDF]

J Virol
Simon AE, Needham JM, Mikkelsen A, Atallah O.   +3 more
europepmc   +1 more source

Integrated phenotypic screening and chemical proteomics identifies ETF1 ligands that modulate viral translation and replication. [PDF]

Proc Natl Acad Sci U S A
Kim AS, Ma K, Reinhardt CJ, Lazar DC, Ogasawara D, Shaw TM, de la Torre JC, Bailey AL, Melillo B, Teijaro JR, Cravatt BF.   +10 more
europepmc   +1 more source

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

RNA Structural Ensemble Determinants of -1 Programmed Ribosomal Frameshifting Efficiency Across Coronavirus Evolution. [PDF]

J Mol Biol
Allen SR, Schlick T, Laederach A.
europepmc   +1 more source

A Data‐Driven Redefinition of Early Relapse in Pediatric T Cell Acute Lymphoblastic Leukemia: Evidence for Progression of Disease 15 Months

Med Research, EarlyView.
Data‐driven redefinition of early relapse in pediatric T‐ALL using hazard modeling, cumulative incidence, and time‐dependent HR across 1533 patients in three independent cohorts identifies 15 months as the optimal threshold. By integrating temporal risk metrics and external validation, this study provides evidence for POD ≤ 15 months as a data‐driven ...
Na Zhang, Wenli Tang, Yali Shen, Yance Feng, Hui Shi, Binjun Xiong, Hua You   +6 more
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

The role of chikungunya virus capsid-viral RNA interactions in programmed ribosomal frameshifting. [PDF]

J Virol
Farrington JA, Rooney EE, Hardy RW.
europepmc   +1 more source