Results 81 to 90 of about 667,182 (291)

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

The role of vitamin D and the VDR gene polymorphism in sepsis risk and mortality: a systematic review and meta-analysis [PDF]

Osong Public Health and Research Perspectives
Objectives Vitamin D regulates immune function, cell proliferation, and differentiation. Its deficiency is linked to sepsis, although the causal relationship remains unclear.
Wiwi Jaya, Sumarno Reto Prawiro, Hani Susianti, Aswoco Andyk Asmoro   +3 more
doaj   +1 more source

Are endocannabinoid type 1 receptor gene (CNR1) polymorphisms associated with obesity and metabolic syndrome in postmenopausal Polish women? [PDF]

, 2009
Objective: The aim of this study was to determine whether genetic variation at the cannabinoid receptor-1 (CNR1) locus could have an effect on adiposity, fat distribution and obesity-related metabolic disorders in Polish postmenopausal women.Design and ...
Andrzej Milewicz, Diana Jedrzejuk, Felicja Lwow, Katarzyna Dunajska, Lukasz Laczmanski, Urszula Tworowska-Bardzinska   +5 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

A first assessment of genetic variability in the longhorn beetle Rosalia alpina (Coleoptera: Cerambycidae) from the Italian Apennines [PDF]

, 2018
The Rosalia longicorn (Rosalia alpina) is a strictly protected saproxylic beetle, widely distributed in Central and Southern Europe and mainly associated with ancient beech forests. To improve knowledge about the conservation status of R. alpina in Italy,
Antonini, G., Audisio, P. A., Bologna, M. A., Campanaro, A., Carpaneto, G. M., Chiari, S., Cini, A., Mancini, E., Mason, F., Molfini, M., Mosconi, F., Redolfi de Zan, L., Rossi de Gasperis, S., Roversi, P. F., Sabbatini Peverieri, G., Solano, E.   +15 more
core   +2 more sources

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Growth Hormone Gene Polymorphism and Its Association with Partial Cumulative Milk Yields of Holstein Friesian Dairy Cattle [PDF]

, 2012
Growth hormone gene (GH gene) plays an important role in regulating body growth and in developing mammary gland, similar with its interaction to specific receptors.
Andreas, E. (E), Anggraeni, A. (A), Misrianti, R. (R), Sumantri, C. (C)   +3 more
core  

Predictability of IL-28B-polymorphism on protease-inhibitor-based triple-therapy in chronic HCV-genotype-1 patients: A meta-analysis

, 2014
AIM: To investigate the predictability of interleukin-28B single nucleotide polymorphism rs12979860 with respect to sustained virological response (SVR) in chronically hepatitis C virus (HCV) genotype-1 patients treated with a protease-inhibitor and ...
Amanzada, Ahmad, Cameron, Silke, Mechie, Nicolae-Catalin, Röver, Christian   +3 more
core   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

SNP Assay Development for Linkage Map Construction, Anchoring Whole-Genome Sequence, and Other Genetic and Genomic Applications in Common Bean. [PDF]

, 2015
A total of 992,682 single-nucleotide polymorphisms (SNPs) was identified as ideal for Illumina Infinium II BeadChip design after sequencing a diverse set of 17 common bean (Phaseolus vulgaris L) varieties with the aid of next-generation sequencing ...
Cregan, Perry B, Hwang, Eun-Young, Hyten, David L, Jackson, Scott A, Jenkins, Jerry, Jia, Gaofeng, McClean, Phillip E, Osorno, Juan M, Schmutz, Jeremy, Schroeder, Steven G, Song, Qijian   +10 more
core   +1 more source