Results 91 to 100 of about 73,318 (285)

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

Polymorphism in Exon 2 of CD1 Genes in Southwest of Iran

Iranian Journal of Public Health, 2013
Background: The CD1 family is less variable transmembrane antigen presenting molecules related to the MHC molecules. CD1a and CD1e genes are the most polymorphic ones associated with autoimmune diseases. The aim was to better clarify the map of CD1 genes
Hossein Golmoghaddam, Nargess Arandi, Abbas Ghaderi, Mehrnoosh Doroudchi   +3 more
doaj   +2 more sources

Genetic variation mining of the blackened turbot (Scophthalmus maximus) based on transcriptome data

Aquaculture Reports
Malpigmentation on the blind-side skin of Scophthalmus maximus represents a significant concern in flatfish aquaculture. To explore the underlying mechanism, transcriptome sequencing was conducted on blind-side skin from both hypermelanotic and normal ...
Yufeng Si, Hairuo Zhuang, Changchen Ding, Ning Liu, Xiaoyu Han, Songlin Chen, Baolong Bao   +6 more
doaj   +1 more source

Vascular Calcification in Homozygote Familial Hypercholesterolemia [PDF]

Arteriosclerosis, Thrombosis, and Vascular Biology, 2008
In this issue of Arteriosclerosis, Thrombosis, and Vascular Biology , Awan and coworkers1 describe the study of 25 homozygous familial hypercholesterolemic (FH) patients aged 5 to 54 years. Eighteen of the patients had aortic calcification scores >1000.
Joel D. Morrisett, Kasey C. Vickers
openaire   +1 more source

PATTERNA: transcriptome-wide search for functional RNA elements via structural data signatures. [PDF]

, 2018
Establishing a link between RNA structure and function remains a great challenge in RNA biology. The emergence of high-throughput structure profiling experiments is revolutionizing our ability to decipher structure, yet principled approaches for ...
Aviran, Sharon, Ledda, Mirko
core  

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats

The Journal of Pathology, EarlyView.
Abstract Late‐onset Fuchs endothelial corneal dystrophy (FECD) is the most common primary disease of the corneal endothelium and the leading indication for corneal transplantation in Western countries. It is characterized by progressive accumulation, over two to three decades, of extracellular matrix (ECM) components in Descemet's membrane (DM ...
Hanielle Vaitinadapoulé, Daria Onitiu, Corantin Maurin, Gauthier Travers, Emmanuel Crouzet, Oliver Dorado‐Cortez, Sylvain Poinard, Zhiguo He, Fabien Forest, Edouard Ollier, Renaud Touraine, Philippe Gain, Jean‐Marc Perone, Gilles Thuret, the French Fuchs Study Group (FFSG), Diane Bernheim, Christophe Chiquet, Vincent Borderie, Tristan Bourcier, Jean‐Louis Bourges, Frédéric Chiambaretta, Béatrice Cochener, Louis Arnould, Florian Baudin, Catherine Creuzot, Vincent Daien, Alexandre Denoyer, Bernard Duchesne, Nicolas Duquesne, Pierre Fournie, Anne‐Sophie Gauthier, Philippe Gain, Gilles Thuret, Louis Hoffart, François Majo, Marc Muraine, Romain Mouchel, Jean Marc Perone, Jean Claude Quintyn, Alexandra Rabot, Alain Saad, Damien Gatinel, Pierre‐Yves Santiago, Jean‐Michel Bosc, David Touboul, Bertrand Vabres   +45 more
wiley   +1 more source

Fatty liver in H63D homozygotes with hyperferritinemia

World Journal of Gastroenterology, 2006
To study the clinical correlates of the H63D mutation we have analysed the phenotype of H63D homo-zygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for HFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified.
Sebastiani, Giada, Wallace, D.F., Davies, S.E., Kulhalli, Vasu, Walker, A.P., Dooley, J.S.   +5 more
openaire   +3 more sources

Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance. [PDF]

, 2019
Plasmodium vivax invasion of human erythrocytes depends on the Duffy Binding Protein (PvDBP) which interacts with the Duffy antigen. PvDBP copy number has been recently shown to vary between P. vivax isolates in Sub-Saharan Africa. However, the extent of
Ford, Anthony, Gunalan, Karthigayan, Hamid, Muzamil MA, Hostetler, Jessica B, Janies, Daniel A, Kepple, Daniel, Lo, Eugenia, Miller, Louis H, Pearson, Richard D, Rayner, Julian C, Yan, Guiyun, Yewhalaw, Delenasaw   +11 more
core   +2 more sources

Development and application of KASP assays to differentiate between Sorghum bicolor, halepense, and their hybrids

Pest Management Science, EarlyView.
A panel showing the morphological differences between Sorghum halepense (A), hybrids (B), and Sorghum bicolor (C) with a novel KASP‐based genetic assay capable of reliably distinguishing between them. Partially Created in BioRender. https://BioRender.com/1u30ukv Abstract BACKGROUND Sorghum bicolor and Sorghum halepense can readily hybridize, creating ...
Connor Purvis, Eric L. Patterson, Erin E. Burns   +2 more
wiley   +1 more source

Analysis of Suppressor of Cytokine Signaling 2 Gene (SOCS2) Polymorphism in Different Dog Breeds

Scientific Papers Animal Science and Biotechnologies, 2023
SOCS2 is a negative regulator of growth hormone signaling. The deletion of SOCS2 in mice results in a 30-50% increase in post-natal growth. The aim of the paper was to identify of suppressor of cytokine signaling 2 gene (SOCS2) polymorphism in different ...
Martina Miluchová, Michal Gábor, Anna Trakovická, Peter Beke   +3 more
doaj