Results 51 to 60 of about 1,145,402 (246)

Genetic landscape of autism spectrum disorder in Vietnamese children [PDF]

, 2020
Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited.
Bui, HTP, Dao, LTM, Do, DH, Ha, LT, Le, HTT, Le, VS, Ly, HTT, Mukhopadhyay, A, Nguyen, HT, Nguyen, HT, Nguyen, LT, Tran, KT, Vu, DM   +12 more
core   +2 more sources

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, EarlyView.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Discovery of a Novel DNMT1 Inhibitor with Improved Efficacy in Treating β‐Thalassemia

Advanced Science, EarlyView.
Context of Research: β‐thalassemia affects millions worldwide. DNMT inhibitors are effective HbF‐inducers that benefit patients with β‐thalassemia. Existing DNMT inhibitors are not approved for β‐thalassemia treatment due to dose‐limiting toxicity.What We Find: DMT207 traps DNMT1 into helix‐kinked inactive conformation and enhances its interaction with
Yijie Shen, Jiale Wei, Shibing Tang, Dongliang Wu, Liangyi Zong, Shuyuan Ma, Qing Xiong, Ruijie Gong, Siyuan Xu, Chuxuan Peng, Qin Feng, Songchen Liu, Qitong Liu, Yuhua Ye, Quan Zhao, Cheng Luo, Peng Huang, Zhihai Li, Xiangqian Kong, Xianjiang Lan   +19 more
wiley   +1 more source

Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia

eJHaem
The phenotype of β‐thalassemia varies widely. The primary determinant is the type of beta‐globin gene mutation; however, there are secondary and tertiary modifiers also as associated alpha mutations, polymorphisms, as well as coinheritance of mutations ...
Jyoti Shaw, Abhilipsa Patra, Anjumana Khatun, Rudra Ray, Amit Ghosh, Sonali Mahapatra, Ashutosh Panigrahi, Maitreyee Bhattacharyya   +7 more
doaj   +1 more source

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

Epigenetics & Chromatin, 2017
Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX. The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications.
L. Schenkel, K. Kernohan, A. McBride, Ditta Reina, A. Hodge, P. Ainsworth, D. Rodenhiser, G. Paré, N. Bérubé, C. Skinner, K. Boycott, C. Schwartz, B. Sadikovic   +12 more
semanticscholar   +1 more source

Loss of SOCS1 in Donor T Cells Exacerbates Intestinal GVHD by Driving a Chemokine‐Dependent Pro‐Inflammatory Immune Microenvironment

Advanced Science, EarlyView.
T cell‐specific Socs1 knockout leads to inflammatory differentiation of CD8+ T cells, prompting the STAT1/2 complex to drive the activation of Ccl5, Ccr5, and Cxcr3, and promoting the skewing of monocytes toward a pro‐inflammatory M1 macrophage lineage.
Zhigui Wu, Bixia Wang, Xinya Jiang, Fangqing Zhang, Qianqian Huang, Xinyi Wu, Shuang Fan, Qi Zhang, Jingrui Zhou, Jianing Tang, Xiao‐Dong Mo, Yu Wang, Ying‐Jun Chang, Huidong Guo, Xiao‐Jun Huang   +14 more
wiley   +1 more source

Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is a chronic inflammatory state, characterized by increased plasma values of inflammatory and angiogenic proteins. Although red blood cell (RBC) transfusion is known to have immunomodulatory effects in other conditions, its potential effects on the inflammatory state in SCD remain largely unknown.
Lydian A. de Ligt, Sanjay R. Thakoerdin, Maud Zwolsman, Gaby Stegemann, Hanke Matlung, Taco W. Kuijpers, Bart J. Biemond, Karin Fijnvandraat, Robin van Bruggen, Erfan Nur   +9 more
wiley   +1 more source

بررسی مولکولی جهش های غير حذفی ژن های آلفاگلوبين بيماران آلفا تالاسمی دراستان کرمانشاه [PDF]

, 2014
زمينه و هدف : آلفاتالاسمی يک بيماری تک ژنی با توارث اتوزومی مغلوب بوده و در جمعيت هايی با منشاء مديترانه ای و آسيای جنوب شرقی شايع می باشد. بررسی شيوع جهش های غير حذفی اين بيماری می تواند راهنمای مفيد و سريعی جهت پيش گيری، کنترل و تشخيص قبل از تولد اين ...
اكرمي پور, رضا, بيدكي, سید کاظم, خالقي, سمیه, علي بخشي, رضا   +3 more
core  

Alpha-Thalassemia in North Morocco: Prevalence and Molecular Spectrum

BioMed Research International, 2019
Unlike the other hemoglobinopathies, few researches have been published concerning α-thalassemia in Morocco. The epidemiological features and the mutation spectrum of this disease are still unknown. This regional newborn screening is the first to study α-
Achraf Laghmich, Fatima Zahra Alaoui Ismaili, A. Barakat, Naima Ghailani Nourouti, M. Khattab, Mohcine Bennani Mechita   +5 more
semanticscholar   +1 more source

Alpha- Thalassemia: An Overview

Scholars Journal of Applied Medical Sciences, 2023
Alpha-Thalassemia is the commonest hereditary monogenic disease worldwide. α-thalassemia is caused by α-globin gene losses and categorized into α-thalassemia 1 and α-thalassemia 2 depending on how many α-globin genes are functioning. Α thalassemia 1 is defined by inactivation of both α-globin genes on a chromosome, while in α-thalassemia 2, one gene is
openaire   +1 more source