Results 61 to 70 of about 819,324 (310)

Comparison of robust tests for genetic association using case-control studies

, 2006
In genetic studies of complex diseases, the underlying mode of inheritance is often not known. Thus, the most powerful test or other optimal procedure for one model, e.g. recessive, may be quite inefficient if another model, e.g.
Freidlin, Boris, Gastwirth, Joseph L., Zheng, Gang   +2 more
core   +1 more source

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 lexicalization of emojis: the influence of frequency and functions of emojis in sentences on this process—a study based on eye movement tracking

Frontiers in Psychology
The lexicalization of emojis reflects the dynamic evolutionary characteristics of the linguistic symbol system in the digital age. The influence of usage frequency and the different functions of emojis in sentences on this process is also a research ...
Wanhong Lu, Wanhong Lu, Haoge Du, Haoge Du, Feng Gu, Feng Gu, Jianghua Han, Jianghua Han   +7 more
doaj   +1 more source

Multi-Dimensional Inheritance

, 1994
In this paper, we present an alternative approach to multiple inheritance for typed feature structures. In our approach, a feature structure can be associated with several types coming from different hierarchies (dimensions).
Erbach, Gregor
core   +2 more sources

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

An empirical study of evolution of inheritance in Java OSS [PDF]

, 2006
Previous studies of Object-Oriented (OO) software have reported avoidance of the inheritance mechanism and cast doubt on the wisdom of ‘deep’ inheritance levels.
Counsell, S, Nasseri, E, Shepperd, M J
core  

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

Effects of SiO₂ Nanoparticles on the Yield and Quality of Sophora tonkinensis Under Drought Stress

Agronomy
This study investigates the novel application of silicon nanoparticles (SiO2 NPs) to enhance drought tolerance and medicinal quality in the threatened medicinal plant Sophora tonkinensis, providing technical support for its conservation and cultivation ...
Ying Liang, Shuangshuang Qin, Guili Wei, Ximei Liang, Fan Wei   +4 more
doaj   +1 more source

HOW GOVERNMENTS RESPOND TO BUSINESS DEMANDS FOR TAX CUTS: AN ANALYSIS OF CORPORATE AND INHERITANCE TAX REFORMS IN AUSTRIA AND SWEDEN. CES Open Forum Series 2018-2019 [PDF]

, 2019
This paper analyses government responsiveness to business demands for tax cuts, using case studies of reforms of corporate taxes and inheritance taxes in Austria and Sweden.
Klitgaard, Michael Baggesen, Paster, Thomas   +1 more
core  

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient [PDF]

, 2018
OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion.
Arul, BS, Manu K., Gooch, MD, Michael R., Khanna, Omaditya   +2 more
core   +2 more sources