A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]
, 2017 Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella +10 more
core +2 more sources
The phylogeography of red and yellow coppersmith barbets (Aves: Megalaima haemacephala)
Frontiers in Ecology and Evolution, 2014 Understanding the evolution of color in birds is important because it is used for both inter- and intra-specific communication and is often linked to other important traits including life history, behavior, immunology and mate choice.
Robert-Jan eDen Tex +2 more
doaj +1 more source
The Globin Gene Family in Arthropods: Evolution and Functional Diversity
Frontiers in Genetics, 2020 Globins are small heme-proteins that reversibly bind oxygen. Their most prominent roles in vertebrates are the transport and storage of O2 for oxidative energy metabolism, but recent research has suggested alternative, non-respiratory globin functions ...
Andreas Prothmann +8 more
doaj +1 more source
Coevolution Theory of the Genetic Code at Age Forty: Pathway to Translation and Synthetic Life
Life, 2016 The origins of the components of genetic coding are examined in the present study. Genetic information arose from replicator induction by metabolite in accordance with the metabolic expansion law.
J. Tze-Fei Wong +4 more
doaj +1 more source
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
Expression of the C-allele of intronic rs8192675 in SLC2A2 is associated with improved glucose response to metformin [PDF]
Genetics and Molecular BiologyGlucose is a critical nutrient for energy metabolism. The SLC2A2 gene is essential for glucose sensing and homeostasis, as it encodes the facilitated glucose transporter GLUT2. During diabetes treatment, the C-allele of rs8192675 in SLC2A2 has been found
Wanjun Wang +4 more
doaj +1 more source
IKZF1 Deletions with COBL Breakpoints Are Not Driven by RAG-Mediated Recombination Events in Acute Lymphoblastic Leukemia [PDF]
, 2019 IKZF1 deletion (ΔIKZF1) is an important predictor of relapse in both childhood and adult B-cell precursor acute lymphoblastic leukemia (B-ALL). Previously, we revealed that COBL is a hotspot for breakpoints in leukemia and could promote IKZF1 deletions ...
Alonso, Cristina N. +20 more
core +1 more source
A Review for the Special Issue on Paramecium as a Modern Model Organism
Microorganisms, 2023 This review provides background and perspective for the articles contributing to the Special Issue of MDPI Micro-organisms on Paramecium as a Modern Model Organism.
Judith Van Houten
doaj +1 more source
Improved osteogenic vector for non-viral gene therapy [PDF]
European Cells & Materials, 2016 Therapeutic compensation of deficient bone regeneration is a challenging task and a topic of on-going search for novel treatment strategies. One promising approach for improvement involves non-viral gene delivery using the bone morphogenetic protein-2 ...
ARA Hacobian +7 more
doaj +1 more source
The kunitz domain protein BLI-5 plays a functionally conserved role in cuticle formation in a diverse range of nematodes [PDF]
, 2010 The cuticle of parasitic nematodes performs many critical functions and is essential for proper development and for protection from the host immune response.
Antony P. Page +43 more
core +1 more source