Results 261 to 270 of about 11,870,254 (353)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Population Structure, Growth Characteristics, Resource Dynamics, and Management Strategies of <i>Schizopygopsis younghusbandi</i> in Four Tributaries of the Yarlung Zangbo River, Tibet. [PDF]

Biology (Basel)
Han H, Wang L, Zhang C, Li H, Ma B.
europepmc   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

An early origin of oxygenic photosynthesis delays the Great Oxidation. [PDF]

Philos Trans R Soc Lond B Biol Sci
Horne JE, Goldblatt C, Kump L.
europepmc   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

The size of critical secondary nuclei of polymer crystals does not depend on supersaturation. [PDF]

Nat Commun
Liu Y, Wang Z, Zhang Y, Wu T, Zheng T, Guo B, Reiter G, Xu J.   +7 more
europepmc   +1 more source

Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia, Stephane Rodriguez, Emilie Dugast, Christine Lebrun‐Frenay, Eric Thouvenot, Jérôme de Sèze, Emmanuelle Le Page, Sandra Vukusic, Inès Doghri, Eric Berger, Olivier Casez, Pierre Labauge, Aurélie Ruet, Catarina Raposo, Fabienne Le Frère, Arnaud B. Nicot, Sandrine Wiertlewski, Pierre‐Antoine Gourraud, Laure Michel, Laureline Berthelot, David‐Axel Laplaud   +20 more
wiley   +1 more source

Controlled Particle Size Distribution in Ultrasound-Assisted Lithium Carbonate Precipitation. [PDF]

ACS Omega
Aprilianto DR, Perdana I, Aluicius IE, Adi-Kusumo F, Rochmadi, Petrus HTBM.   +5 more
europepmc   +1 more source

Quantitative Shape Irregularity and Density Heterogeneity Predict Hematoma Expansion in Patients With Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose This study aimed to explore the association between quantitative shape irregularity and density heterogeneity of hematomas and hematoma expansion (HE) for intracerebral hemorrhage (ICH) patients. Methods This cohort study included patients arriving within 24 h of symptom onset between August 2021 and July 2022 as the derivation cohort ...
Zeqiang Ji, Yunyi Hao, Bin Gao, Xiaojing Zhang, Yani Zhang, Jiaokun Jia, Xue Xia, Yuhao Guo, Sijia Li, Jianwei Wu, Kaijiang Kang, Xingquan Zhao   +11 more
wiley   +1 more source

Pathophysiological mechanisms of hair follicle regeneration and potential therapeutic strategies. [PDF]

Stem Cell Res Ther
Bellani D, Patil R, Prabhughate A, Shahare R, Gold M, Kapoor R, Shome D.   +6 more
europepmc   +1 more source