Results 51 to 60 of about 34,912 (203)

Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening [PDF]

, 1997
Background: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.
Chan, LC, Chan, YYA, Chui, DHK, Ha, SY, Lau, YL, Waye, JS, Yeung, CY   +6 more
core   +1 more source

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function

American Journal of Hematology, EarlyView.
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin, Guolian Kang, Clifford M. Takemoto, Mitchell J. Weiss, Kenneth I. Ataga, Santosh L. Saraf, Jeffrey Lebensburger, Rima S. Zahr   +7 more
wiley   +1 more source

Application of third-generation sequencing technology in the genetic testing of thalassemia

Molecular Cytogenetics
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.
Weihao Li, Yanchou Ye
doaj   +1 more source

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

Frontiers in Medicine, 2022
ObjectivesTo verify with hematimetric data that the diagnosis and clinical grade of β-TI can be established when a triplication of alpha genes (αααanti 3.7) and heterozygous β-thalassemia coexist.Materials and MethodsRetrospective study in which 73 ...
Paloma Ropero, Paloma Ropero, Fernando Ataúlfo González Fernández, Jorge M. Nieto, Jorge M. Nieto, Williana Melissa Torres-Jiménez, Celina Benavente   +6 more
doaj   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

Molecular pathogenesis and targeted therapy of sporadic pancreatic neuroendocrine tumors [PDF]

, 2015
Over the past few years, knowledge regarding the molecular pathology of sporadic pancreatic neuroendocrine tumors (PNETs) has increased substantially, and a number of targeted agents have been tested in clinical trials in this tumor type.
Ahn, Balogh, Bergers, Berruti, Capurso, Capurso, Carew, Castellano, Chamberlain, Chan, Chan, Chen, Clynes, Corbo, Corbo, Couvelard, De Wilde, Di Florio, Di Florio, Di Florio, Fazio, Fendrich, Gaur, Gurung, Han, Heaphy, Heaphy, Hobday, Hopfner, House, Jacinto, Jensen, Jiao, Karnik, Karnik, Komori, Kulke, Laplante, Loewith, Lovejoy, Luzi, Marinoni, Marion-Audibert, Mendel, Meric-Bernstam, Missiaglia, Mocellin, Panzuto, Papouchado, Passacantilli, Perren, Pàez-Ribes, Raymond, Sarbassov, Scoazec, Shah, Shi, Tang, Vinagre, Wang, Yang, Yao, Yuan, Zhang, Zhang   +64 more
core   +1 more source

Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel, Jacob Ellegood, Jason P. Lerch, Nathalie G. Bérubé   +3 more
wiley   +1 more source

Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment

Thalassemia Reports, 2022
One of the more common single-gene disorders worldwide is α-thalassemia, carriers of which are found at variable frequencies (>1%) across all tropical and subtropical countries.
Duantida Songdej, Suthat Fucharoen
doaj   +1 more source

Le Basi biochimiche e molecolari delle talassemie e la diagnosi dell'Alfa-talassemia eterozigote [PDF]

, 1982
Recent aspects of molecular and biochemical basis of thalassemic syndromes are described together with laboratory methods suitable for diagnosis and screening of heterozygous α ...
Masala, Bruno Lucio
core  

Nano‐networks via reaction‐induced self‐assembly coordinate spatiotemporal multi‐drug delivery for acute kidney injury therapy

BMEMat, EarlyView.
Multifunctional nano‐networks (NNWs) are prepared via reaction‐induced self‐assembly (RISA) of spermidine (SPD), epigallocatechin gallate (EGCG), 2‐formylphenylboronic acid (2‐FPBA), and deferoxamine (DFO) through dynamic iminoboronate bonds. These NNWs leverage the oxidative AKI microenvironment to trigger disintegration, enabling site‐specific ...
Juan Jin, Xiao Zhang, Chenxi Wang, Taian Jin, Xinyang Fang, Yixuan Gao, Mengchun Chen, Weiyang Meng, Chang Gao, Wenlu Li, Yuanfeng Li, Yijie Chen, Calvin A. Omolo, Thirumala Govender, Linqi Shi, Yunguang Wang, Yong Liu, Qiang He   +17 more
wiley   +1 more source