Results 51 to 60 of about 1,423,917 (266)

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells

Cells, 2020
Mitochondria are involved in many cellular processes and their main role is cellular energy production. They constantly undergo fission and fusion, and these counteracting processes are under strict balance. The cytosolic dynamin-related protein 1, Drp1,
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada   +3 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 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

Health Literacy, Self‐Efficacy and Knowledge of Sickle Cell Disease Among Caregivers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a hereditary blood disorder in which abnormal haemoglobin leads to severe anaemia, painful crises and organ failure. Caregivers’ health literacy (HL) – their ability to assess, understand and apply information, and interact with healthcare professionals – is crucial for managing children with SCD, yet ...
Melanie Bruinooge, Maite E. Houwing, Rowena L. Grohssteiner, Ferdows Atiq, Sonja A. M. C. Teuben, Mirjam P. Fransen, Marjon H. Cnossen   +6 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

Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life

Cells
Topoisomerases regulate the topological state of cellular genomes to prevent impediments to vital cellular processes, including replication and transcription from suboptimal supercoiling of double-stranded DNA, and to untangle topological barriers ...
Kemin Tan, Yuk-Ching Tse-Dinh
doaj   +1 more source

An [Imperfect] Case for Dyadic Research in Pediatric Psychosocial Oncology

Pediatric Blood &Cancer, EarlyView.
Stephanie M. Nanos, Lindsay A. Jibb, Gary Rodin   +2 more
wiley   +1 more source

Leukemia and Exposure to Potential Benzene Sources in Children From the Mexico City Metropolitan Area, 2010–2021: A Geospatial Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Leukemia is the most common childhood cancer in Mexico, and acute lymphoblastic leukemia (ALL) is the most frequent subtype. Exposure to high concentrations of benzene has been associated with ALL incidence, particularly in urban areas. This study evaluated the relationship between distance to benzene emission sources and the number
Orlando Rivera Zurita, Norma Candelaria López Santiago, Claudia Maria García Cuellar, Karla Maldonado Silva, Nancy Reynoso Noverón, Leticia Hernández Cadena   +5 more
wiley   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte, Hannah Koch, Olivia A. Coughlin, Jillian R. Bouck, Allie Carter, Seethal A. Jacob   +5 more
wiley   +1 more source