Results 211 to 220 of about 608,686 (265)

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Differential analysis of Short chain fatty acids incubation in autistic organoids based on transcriptome sequencing. [PDF]

PLoS One
Wu Z, Liu X, Han X, Li M.
europepmc   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source

Cross-Level Regulatory Interactions Underlying Human Immune Aging. [PDF]

MedComm (2020)
Wu Q, Zhang B, Zhi X, Zhang Q, Zhang K, Wang Y, Zhang K, Feng L, Cheng S, Xiao T.   +9 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Inflammatory factors and hypertensive nephropathy: A bidirectional 2-sample Mendelian randomization study. [PDF]

Medicine (Baltimore)
Yang Y, Xue J, Wang L, Tao L, Tian L.
europepmc   +1 more source

Transcriptomic Signature of PDGF-BB Control of Annulus Fibrosus Reveals Modulation of Inflammatory and Neurogenic Pathways. [PDF]

Cells
Zhang C, Gu G, McNulty JW, Berenfeld D, Haglund L, Yoon ST, Goh B, Drissi H.   +7 more
europepmc   +1 more source

Assessment of boron accumulation and pollution levels and their relation to soil classification. [PDF]

Environ Geochem Health
Koca YK, Aytop H, Yılmaz CH, Demir ÖF, Sünbül MR, Erayman HM, Dikici H.   +6 more
europepmc   +1 more source

ATAC-seq and RNA-seq reveal key genes and pathways regulating lactation in the mammary gland of Yili horses. [PDF]

BMC Genomics
Liu L, Chen B, Kong M, Tian Y, Ma H, Cao H, Liu W.   +6 more
europepmc   +1 more source

Application of NanoString Technologies in Chronic Myeloid Leukemia, Essential Thrombocythemia, Primary Myelofibrosis, and Polycythemia Vera: A Pilot Study. [PDF]

Diagnostics (Basel)
Bae JH, Bae KJ, Cho CH.
europepmc   +1 more source