Results 81 to 90 of about 5,372,923 (315)

Impact of GATA2 gene polymorphism (rs2335052 A > G) on coronary artery disease susceptibility

Egyptian Journal of Medical Human Genetics
Background The transcription factor GATA binding protein 2 (GATA2) is essential for the gene expression profile in vascular endothelial cells. GATA2 located on 3q21, encodes a transcription factor essential for the production and differentiation of ...
Sailaja Maddhuri, Chaitanya Kumar Bhukya, Gummadi Akhil, V. Gayathri Snigdha, P. Priyanka, Amaresh Rao Malempati, Vijaya Lakshmi Bodiga   +6 more
doaj   +1 more source

Retrospective Analysis of Donor Lymphocyte Infusions in Pediatric Patients With Mixed Chimerism After Hematopoietic Stem Cell Transplantation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) is an essential therapy for several malignant and nonmalignant diseases, but relapse and graft loss remain the principal threats to its success. Routine monitoring of chimerism and minimal residual disease (MRD) enables early detection of imminent recurrence and guides ...
Carmen Junk, Sebastian Michaelis, Michaela Döring, Thomas Eichholz, Ursula Holzer, Martin Ebinger, Tim Flaadt, Rupert Handgretinger, Peter Lang, Jan Frederic Weller, Markus Mezger   +10 more
wiley   +1 more source

Genetic Factors Implicated in the Investigation of Possible Connections between Alzheimer’s Disease and Primary Open Angle Glaucoma

, 2023
Both Alzheimer’s disease (AD) and primary open angle glaucoma (POAG) are diseases of primary global neurodegeneration with complex pathophysiologies.
Grace Kuang, Rebecca Salowe, Joan O’Brien   +2 more
core   +1 more source

Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin, Sheila K. Pierson, Kelley C. Dacus, Mateo Sarmiento Bustamante, Saishravan Shyamsundar, Larissa Borys, Kayla McHugh, Abiola Irvine, Yoojin Jo, Adam Bagg, Mary Jo Lechowicz, Daisy Alapat, Amy Chadburn, Megan S. Lim, Gordan Srkalovic, Frits van Rhee, David C. Fajgenbaum, Joshua D. Brandstadter   +17 more
wiley   +1 more source

Advances in the Identification of Novel Urinary Biomarkers for Diabetic Kidney Disease

Journal of Diabetes Research
Diabetic kidney disease (DKD) is a major microvascular complication of diabetes and remains one of the leading causes of end-stage renal disease, significantly affecting patients' survival rates and quality of life.
Yujie Jin, Yan Ma, Yan Yao, Mengru Wang, Chunchen Ni, Shujuan Shang, Yongxin Cui, Xinyu Wang, Ye Ling, Yumeng Sun, Qirui Pei, Shiqiang Liu, Lizhuo Wang, Jialin Gao   +13 more
doaj   +1 more source

Applications of gene modification technologies in the treatment of inherited diseases

Journal of Education, Health and Sport
Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases.
Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak   +6 more
doaj   +1 more source

Graphical chain models for the analysis of complex genetic diseases: an application to hypertension [PDF]

, 2002
A crucial task in modern genetic medicine is the understanding of complex genetic diseases. The main complicating features are that a combination of genetic and environmental risk factors is involved, and the phenotype of interest may be complex ...
Vicard, P., Di Serio, C.
core   +1 more source

Developing Non-Human Primate Models of Inherited Retinal Diseases

, 2022
Inherited retinal diseases (IRDs) represent a genetically and clinically heterogenous group of diseases that can eventually lead to blindness. Advances in sequencing technologies have resulted in better molecular characterization and genotype&ndash ...
Xinyi Su, Ivan Seah, Hwei Wuen Chan, Debbie Goh   +3 more
core   +1 more source

The Impact of the COVID‐19 Pandemic on Childhood Cancer Survival: A Population‐Based Assessment of Survival Patterns Between 2015 and 2023 in Germany

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Numerous international studies have reported declines in new cancer diagnoses, delayed diagnoses and disruptions in cancer treatment following the implementation of COVID‐19 pandemic public health measures, raising concerns that these effects may ultimately contribute to increased cancer mortality.
Friederike Erdmann, Maike Wellbrock, Javier Louro, Arndt Borkhardt, Martin Schrappe, Claudia Trübenbach, Desiree Grabow, Cécile M. Ronckers, Joachim Schüz   +8 more
wiley   +1 more source

The RaDiCo information system for rare disease cohorts

Orphanet Journal of Rare Diseases
Background Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved.
Paul Landais, Sonia Gueguen, Annick Clement, Serge Amselem, for the RaDiCo Program   +4 more
doaj   +1 more source