Results 71 to 80 of about 662,064 (272)

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source

GSTP1 A>G polymorphism and chemosensitivity of osteosarcoma: A meta-analysis

Open Medicine, 2016
The association between GSTP1 A>G polymorphism and chemosensitivity of osteosarcoma is controversial according to previously published studies. We conducted this meta-analysis to further investigate the role of GSTP1 A>G genetic variation in response to ...
Fengfeng Wu, Ruqing Ye, Juntao Xu
doaj   +1 more source

Genetic Polymorphism

, 2017
The human DNA is exposed to a number of changes, these changes are frequently carried out in one or few nucleotides called mutations, which can be caused by errors in the mechanisms of DNA replication and repair as well as by environmental factors; and these mutations can have deleterious effects and cause disease.
openaire   +2 more sources

Neuroinflammation in GAD65 Antibody‐Associated Epilepsy Measured Using [18F]DPA‐714 PET/MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The timing for initiating immunotherapy in patients with glutamic acid decarboxylase 65 (GAD65) antibody‐associated epilepsy is a challenge. We used the translocator protein radioligand [18F]DPA‐714 and PET to evaluate brain microglial activation.
Jingjing Chen, Yuying Zhang, Heyu Zhang, Jinming Zhang, Ningning Wang, Xintong Guo, Yicong Liu, Yue Liu, Xiangsong Zhang, Ziyi Chen, Guanzhong Ni   +10 more
wiley   +1 more source

Protective association of TNFSF15 polymorphisms with Crohn's disease and ulcerative colitis: A meta-analysis

The Saudi Journal of Gastroenterology, 2018
Background/Aims: Three extensively investigated polymorphisms (rs3810936, rs7848647, and rs6478108) in tumor necrosis factor super family member 15 (TNFSF15) gene have been implicated in risk for inflammatory bowel disease (IBD).
Liwen He, Jiamin Chen, Jiachen Sun, Junsheng Peng, Qing He   +4 more
doaj   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Association of Calpastatin (CAST) Gene with Growth Traits and Carcass Characteristics in Bali Cattle [PDF]

, 2015
Calpastatin (CAST) gene is well known as an inhibitor of muscle protein degradation and relates to muscle growth and meat tenderness. The objective of this study was to determine the association of CAST gene with growth traits and carcass characteristics
Gunawan, A. (A), Jakaria, J. (Jakaria), Priyanto, R. (R), Putri, R. (R)   +3 more
core  

Genetic variability of anther donor versus spontaneous doubled haploid descendents and colchicine induced doubled haploid sweet pepper (Capsicum annuum L.) lines [PDF]

, 2001
Haploid (n) and doubled haploid (DH) plants were developed in anther culture of sweet pepper (Capsicum annuum L.). Regenerants were analyzed by flow cytometry for haploid (n = 12) and spontaneous doubled haploid (2n = 24) genomes.
Gyulai, Gábor, Gémesné Juhász, Anikó, Károlyiné Cséplő, Mónika, Petus, M.   +3 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

Allelic Frequency of Kappa-Casein Locus (Asp148/Ala) in F1: Simmental (Bos Taurus) X Ongole Grade (Bos Indicus) [PDF]

, 2012
This study was conducted to detect the genetic variants (single nucleotide polymorphism) of kappa-casein locus (Asp148/Ala) in F1: Simmental (Bos taurus) x Ongole grade (Bos indicus), SIMPO.
Mu\u27in, M. A. (M), Supriyantono, A. (A)   +1 more
core   +1 more source