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Mostrando ítems 2131-2140 de 2825
Dopamine D 4 receptor, but not the ADHD-associated D 4.7 variant, forms functional heteromers with the dopamine D 2S receptor in the brain
(Nature Publishing Group, 2012-06)
Polymorphic variants of the dopamine D 4 receptor have been consistently associated with attention-deficit hyperactivity disorder (ADHD). However, the functional significance of the risk polymorphism (variable number of ...
Mutation analysis of CHCHD10 in different neurodegenerative diseases
(Oxford University Press, 2015-09)
A recent study by Bannwarth et al. (2014) implicated CHCHD10 as a novel gene for amyotrophic lateral sclerosis/frontotemporal lobar degeneration (ALS/FTLD), reporting a p.S59L substitution (c.176C > T; NM_213720.2) in a ...
ApoER2 and Reelin are expressed in regenerating peripheral nerve and regulate Schwann cell migration by activating the Rac1 GEF protein, Tiam1
(Academic Press Inc Elsevier Science, 2015-11)
ApoER2 and its ligand Reelin participate in neuronal migration during development. Upon receptor binding, Reelin induces the proteolytic processing of ApoER2 as well as the activation of signaling pathway, including small ...
Usefulness of Non-Invasive Fetal RHD Genotyping towards Immunoprophylaxis Optimization
(Karger, 2018-11)
Introduction: Since anti-D immunoprophylaxis given to D-negative pregnant women is a blood product, blood donations have an impact on the availability of prophylactic doses. The Pan American Health Organization reported, ...
The novel Solanum tuberosum calcium dependent protein kinase, StCDPK3, is expressed in actively growing organs
(Springer, 2012-12)
Calcium-dependent protein kinases (CDPKs) are key components of calcium regulated signaling cascades in plants. In this work, isoform StCDPK3 from Solanum tuberosum was studied and fully described. StCDPK3 encodes a 63 kDa ...
Characterization of StPPI1, a proton pump interactor from Solanum tuberosum L. that is up-regulated during tuber development and by abiotic stress
(Springer, 2011-04)
Plasma membrane proton pumps (PM H+-ATPases) are involved in several physiological processes, such as growth and development, and abiotic stress responses. The major regulators of the PM H+-ATPases are proteins of the ...
Single nucleotide polymorphism in PTEN-Long gene: a risk factor in chronic myeloid leukemia
(Elsevier Science, 2019-04)
The BCR-ABL1 oncogene is associated with chronic myeloid leukemia (CML) pathogenesis, but the molecular mechanisms that initiate leukemogenesis are still unclear. Cancer pathogenesis has been associated with genetic ...
Relaciones genotipo-fenotipo en Hemofilia: Desarrollo de un esquema de análisis molecular para mejorar la atención médica de las familias con Hemofilia
(2019-03-14)
La Hemofilia es una enfermedad clave para estudiar la genética humana. Los objetivos del trabajo son mejorar las herramientas moleculares diagnósticas y aportar al conocimiento de la relación genotipo-fenotipo en Hemofilia ...
Identificación por nuestro grupo de una nueva mutación en el gen GP1BA (p.W246L) asociada al fenotipo PT-VWD: sexta mutación reportada internacionalmenteIdentification by our group of a novel mutation in the GP1BA gene (P.W246L) responsible for PT-VWD. The 6th mutation internationally reported
(Academia Nacional de Medicina, 2014-07)
La enfermedad de von Willebrand tipo plaquetario (PT-VWD) y tipo 2B (2B-VWD) son trastornos hemorrágicos raros, caracterizados por agregación plaquetaria a bajas concentraciones de ristocetina (RIPA). El diagnóstico ...
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
(Sage Publications Ltd, 2019-12)
Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound ...