Results 241 to 250 of about 7,285,451 (331)

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

Metabolic engineering and adaptive laboratory evolution of Kluyveromyces Marxianus for lactic acid production. [PDF]

Microb Cell Fact
Smets J, Godoy HE, Goossenaerts J, Van Bun E, Deparis Q, Bauwens J, Ortiz-Merino RA, Mancera E, DeLuna A, Verstrepen KJ.   +9 more
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

Engineered single chain variable fragments (scFvs) with improved pH-dependent kinetics for use in continuous biosensor applications. [PDF]

RSC Adv
Wilson ED, Probst D, Hamasaki M, Oda M, Kochar V, Xu Q, Tanaka A, Suzuki H, Asano R, Sode K.   +9 more
europepmc   +1 more source

PHS Responsibilities

Public Health Reports (1896-1970), 1956
openaire   +2 more sources

Determination of the pH Values of the Reproductive-tract Fluids of the Rat During Heat

, 1958
Richard J. Blandau, L.S. JENSEN, Ruth E. Rumery   +2 more
openalex   +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

Ion-exchange chromatography, capillary isoelectric focusing, and capillary zone electrophoresis coupled to mass spectrometry for charge variant analysis of monoclonal antibodies. [PDF]

MAbs
Schairer J, Höchsmann A, Bauer B, Höfer V, Römer J, Neusüß C.   +5 more
europepmc   +1 more source

VITAMIN D AND URINARY pH

, 1951
H. Steenbock, Stuart A. Bellin, Walter G. Wiest   +2 more
openalex   +1 more source