Results 41 to 50 of about 5,843,460 (297)

Novel mutation in PLP1 gene in an individual with Pelizaeus-Merzbacher disease (PMD) using whole exome sequencing [PDF]

Journal of Epigenetics
Background: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system. This disease is associated with abnormalities of the white matter of the brain and spinal cord.
Nagham Mahdi Hamid Abdollah, Narges Javadzadeh   +1 more
doaj   +1 more source

Next‐generation sequencing for BCR‐ABL1 kinase domain mutations in adult patients with Philadelphia chromosome‐positive acute lymphoblastic leukemia: A position paper

Cancer Medicine, 2020
Emergence of clones carrying point mutations in the BCR‐ABL1 kinase domain (KD) is a common mechanism of resistance to tyrosine kinase inhibitor (TKI)‐based therapies in Philadelphia chromosome‐positive (Ph+) acute lymphoblastic leukemia (ALL).
Simona Soverini, Francesco Albano, Renato Bassan, Francesco Fabbiano, Felicetto Ferrara, Robin Foà, Attilio Olivieri, Alessandro Rambaldi, Giuseppe Rossi, Simona Sica, Giorgina Specchia, Adriano Venditti, Giovanni Barosi, Fabrizio Pane   +13 more
doaj   +1 more source

Getting to the point (mutation) [PDF]

Fertility and Sterility, 2021
Sinem, Karipcin, Shan, Wei, Zev, Williams   +2 more
openaire   +2 more sources

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

DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE

Бюллетень сибирской медицины, 2015
Aim: to estimate the frequency of DNMT3A gene exons 18–26 point mutations in acute myeloid leukemia (AML) patients (pts) using target automatic sequencing technique.Material and Methods.
A. V. Vinogradov, A. V. Rezaykin, A. G. Sergeev   +2 more
doaj   +1 more source

Chemotherapy for Spinal Cord Intramedullary Pediatric Low‐Grade Glioma—A Systematic Literature Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric intramedullary low‐grade gliomas (PIMLGGs) are rare neoplasms that present unique clinical and management challenges. Although surgery remains the primary tool for tissue diagnosis and decompression, complete gross‐total resection is frequently unfeasible due to the infiltrative nature of these lesions.
Olga M. Sergeenko, Segev Gabay, Jonathan Roth, Amit Ringel, Rina Dvir, Shlomi Constantini   +5 more
wiley   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Production of Esters in Escherichia coli Using Citrate Synthase Variants

Microorganisms
Acetate esters comprise a wide range of products including fragrances and industrial solvents. Biosynthesis of esters offers a promising alternative to chemical synthesis because such routes use renewable carbohydrate resources and minimize the ...
Jacoby C. Shipmon, Pasupathi Rathinasabapathi, Michael L. Broich, Hemansi, Mark A. Eiteman   +4 more
doaj   +1 more source

Evaluation of Fungicide Resistance of the Brown Shot-hole Pathogens of Cherry Trees in Korea [PDF]

The Plant Pathology Journal
Cherry trees (Prunus serrulata var. spontanea, Prunus × yedoensis), a widely cultivated ornamental street trees grown in Korea, are vulnerable to variety of diseases particularly the prevailing brown shot-hole disease, thus needs effective maintenance ...
Young Min Ko, Donggye Lee, Min Seong Seok, Donah Mary Macoy, Youn-Sig Kwak   +4 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source