Results 41 to 50 of about 1,259,904 (287)

Sodium leak through K2P potassium channels and cardiac arrhythmia, an emerging theme. [PDF]

, 2017
In this issue of EMBO Molecular Medicine, Decher et al (2017) identify a point mutation in the K2P2 (TREK‐1) potassium (K+) channel that changes function in just those ways expected to predispose to right ventricular outflow tract (RVOT) ventricular
Goldstein, Steve An
core   +2 more sources

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

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

An Activating Mutation in sos-1 Identifies Its Dbl Domain as a Critical Inhibitor of the Epidermal Growth Factor Receptor Pathway during Caenorhabditis elegans Vulval Development [PDF]

, 2007
Proper regulation of receptor tyrosine kinase (RTK)-Ras-mitogen-activated protein kinase (MAPK) signaling pathways is critical for normal development and the prevention of cancer.
Elgort, Marc G., Huang, Jingyu, Jongeward, Gregg, Lauritzen, Amara, Modzelewska, Katarzyna, Moghal, Nadeem, Sternberg, Paul W., Yoon, Charles H.   +7 more
core   +2 more sources

Getting to the point (mutation) [PDF]

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

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Site-directed mutagenesis of cysteine to serine residues affects heparin binding and mitogenicity in fibroblast growth factor 4 produced in Escherichia coli

Biotechnology & Biotechnological Equipment, 2019
The binding activity to heparan sulphate is crucial for the mitogenic activity of fibroblast growth factor 4 (FGF4) in developing mammalian embryos. There are two conserved cysteine residues in FGF family proteins, Cys-84 and Cys-151 in mouse FGF4, and ...
Yuki Kumagai, Takahiro Kikuchi, Asumi Nonaka, Misuzu Hiraide, Suguru Sato, Mizuki Sakuraoka, Akira Sasaki, Masayuki Kobayashi   +7 more
doaj   +1 more source

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

Structurally constrained protein evolution: results from a lattice simulation

, 2000
We simulate the evolution of a protein-like sequence subject to point mutations, imposing conservation of the ground state, thermodynamic stability and fast folding. Our model is aimed at describing neutral evolution of natural proteins.
Bastolla, Ugo, Roman, H. Eduardo, Vendruscolo, Michele   +2 more
core   +1 more source

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source