Results 91 to 100 of about 71,295 (266)

Quantitative analysis of DNA‐GATA1 binding alterations linked to hematopoietic disorders

The FEBS Journal, EarlyView.
Native holdup allows the quantitative determination of affinities between full‐length transcription factors and DNA. Mutations in either the protein or the DNA can modulate binding strength, which can be precisely quantified using this approach. Applied to GATA1, it revealed mutations that alter DNA binding.
Boglarka Zambo, Bastien Morlet, Luc Negroni, Orsolya Mózner, Balázs Sarkadi, Gilles Travé, Gergo Gogl   +6 more
wiley   +1 more source

Hypoparathyroidism in Adult Patients with Beta-Thalassemia Major

Sultan Qaboos University Medical Journal, 2007
Objective: To evaluate the prevalence of hypoparathyroidism in adult transfusion-dependent patients with beta-thalassemia major in a teaching referral hospital in Oman.
Gihan Ali A M Sleem, Ibrahim S Al-Zakwani, Muhanna Almuslahi   +2 more
doaj  

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Hypogonadism in thalassemia major patients

Journal of Clinical & Translational Endocrinology, 2016
Despite recent advances in iron chelation therapy, excess iron deposition in pituitary gonadotropic cells remains one of the major problems in thalassemic patients. Hypogonadism, mostly hypogonadotropic hypogonadism, is usually detected during puberty.
Sasima Srisukh, Boonsong Ongphiphadhanakul, Pongamorn Bunnag   +2 more
openaire   +3 more sources

Safety and Efficacy of Iron Chelators in Patients With Chronic Kidney Disease: A Systematic Review and Meta‐Analysis

Hemodialysis International, EarlyView.
ABSTRACT Background Iron overload in chronic kidney disease contributes to oxidative injury. The role of iron chelators, standard in transfusion‐related overload, remains unclear in chronic kidney disease. Aim To evaluate the efficacy and safety of iron chelators in adults with chronic kidney disease.
Humam Emad Rajha, Richard Shamoon, Ameer Almeshagbeh, Samah Masry, Fadel Alqatati, Baha H. Abuajameia, Abdulqadir J. Nashwan   +6 more
wiley   +1 more source

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

Immune Response of Thalassemia Major Patients in Indonesia with and without Splenectomy

Acta Medica Indonesiana, 2016
Aim: to describe non-spesific and specific immune response profile in Indonesian thalassemia major with and without splenectomy. Methods: this study was held at Thalassaemia Centre, Cipto Mangunkusumo Hospital Jakarta on September 2013 – February 2014 ...
Teny T Sari1, Djajadiman Gatot, Arwin A.P. Akib, Saptawati Bardosono, Sri R.S. Hadinegoro, Alida R Harahap, Ponpon S Idjradinata   +6 more
doaj   +2 more sources

The association between inflammatory markers in routine blood counts at 1 year and attention‐deficit/hyperactivity disorder (ADHD): A case–control study

Journal of Child Psychology and Psychiatry, EarlyView.
Background Attention‐deficit/hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder marked by persistent patterns of inattention, disorganization, hyperactivity, and impulsivity. Increasing evidence implicates immune‐inflammatory processes in its etiology, with observed associations between ADHD and infectious diseases, allergic ...
Eugene Merzon, Ariel Israel, Shelly Salminis‐Linzen, Eli Magen, Akim Geishin, Shlomo Vinker, Ilan Green, Avivit Golan‐Cohen, Shai Ashkenazi, Stephen V. Faraone, Abraham Weizman, Iris Manor   +11 more
wiley   +1 more source

Diabetes mellitus in β-thalassemia major patients

, 2003
β-thalassemia major is a disease caused by β polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no β globin chain synthesis.
Setiawan, Santy, Munthe, Bulan G., Kusnandar, Simon, Wirawan, Riadi   +3 more
core   +1 more source

Hair‐on‐end sign in severe sickle cell disease

British Journal of Haematology, EarlyView.
Raquel da Costa Neves, Joana Pais de Faria, Paula Kjöllerström   +2 more
wiley   +1 more source