Results 191 to 200 of about 412,948 (294)

Hemoglobin suresnes combined with α⁰-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing. [PDF]

Ann Hematol
Liu HL, Huang WT.
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

A structure and function-based complete mutational map of human hemoglobin using AI. [PDF]

Front Chem
Salvatore F, Brunello FG, Schuster CD, Martí MA.   +3 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Hemoglobin Phenotype Distribution Among Future Healthcare Providers: A Descriptive Cross-Sectional Study at a Ghanaian Health Sciences University. [PDF]

ScientificWorldJournal
Duneeh RV, Ama DSY, Klugah MA, Allotey E, Akorsu EE, Kwadzokpui PK, Ablordey K.   +6 more
europepmc   +1 more source

A long-lasting low oxygen saturation hiding Titusville hemoglobin diagnosis in a premature 14-month-old child - case report. [PDF]

Ital J Pediatr
Patria MF, Piotto M, Curcio C, Gangi S, Belhaj Y, Lelii M, Madini B, Rocchi A.   +7 more
europepmc   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen, Yi‐Bing Chen, Xin Li, Xiang Xu, Ge Guo, Han‐Lu Li, Yong‐Ming Yao, Chun‐Lei Liu   +7 more
wiley   +1 more source

Comprehensive Review of Genetic and Epigenetic Regulation of Fetal Hemoglobin in β-Hemoglobinopathies: From Molecular Mechanisms to Clinical Applications. [PDF]

Mediterr J Hematol Infect Dis
Abu Za'ror YSM, Suleiman JB, Delmani FA, Alhmoud JF, Ayasreh AM, Al-Wendawi SI, AlRamadneh TN, Azlan M.   +7 more
europepmc   +1 more source

Safety and Feasibility of Magnetic Separation‐Based Blood Purification

Advanced NanoBiomed Research, EarlyView.
We present the preclinical biological safety and translational feasibility of a magnetic nanoparticle‐based extracorporeal blood purification platform for removal of disease‐causing blood factors. ISO 10993‐compliant studies and exaggerated worst‐case exposure models demonstrate efficient nanoparticle extraction (≥99.9%), favorable biocompatibility ...
Carlos A. Mora, Laurine Rijsbergen, Jan Waskowski, Gaelle Clermont, Florian Dingreville, Chandrashekara Vishwanath, Rajesh Karunanithi, Alexander Gogos, Jean‐Claude Metzger, Manuel Baumgartner, Joerg C. Schefold, Inge K. Herrmann   +11 more
wiley   +1 more source

Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report. [PDF]

Eur J Haematol
Moreno Carbonell M, Martínez AG, Mariño SFP, Morín MG, Vigil CR, Ropero P, Cela E, Montañés Á, Recasens V.   +8 more
europepmc   +1 more source