Results 41 to 50 of about 559,485 (280)

Actividad de la proteína transportadora de ésteres de colesterol. Polimorfismos del gen en pacientes colombianos con enfermedad coronaria

Revista Colombiana de Cardiología, 2012
la literatura relaciona la actividad de la proteína transportadora de ésteres de colesterol (CETP) con enfermedad coronaria, por reducir el colesterol en las lipoproteínas de alta densidad.
Alejandra M. Giraldo, MSc., Nelsy Loango, MSc., Hugo Castaño, MD, Patricia Landázuri, PhD.   +3 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Análisis bibliométrico de la influencia de la Genética en enfermedades raras, a partir de las bases de datos Pubmed y SCI (2000-2009)

Revista Española de Documentación Científica, 2013
Este trabajo se centra en el análisis bibliométrico de los artículos de revista publicados sobre dos enfermedades raras que generan trastornos mentales y del comportamiento: CADASIL y Síndrome de Rett, durante el periodo 2000- 2009.
Antonio Eleazar Serrano-López, Carmen Martín-Moreno, Elias Sanz-Casado   +2 more
doaj   +1 more source

Species identification of a suspected bone found in blood sausage [PDF]

, 2016
The case of an identification for a small bone found in a blood sausage is described. The similitude with a rodent bone leads the consumer to demand the government organism responsible of food quality control.
Bustamante, Ana Victoria, Giovambattista, Guillermo, Lyall, V, Padola, Nora Lía, Peral Garcia, Pilar, Posik, Diego Manuel   +5 more
core   +2 more sources

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Arthritis &Rheumatology, EarlyView.
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...
Jian Yue, Courtney E. LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu, Michael T. Lam, Manpreet Meyer, Seigo Okada, Andrew L. D. Hsu, Musaab A. Alhezam, Megan M. Perron, Olha Halyabar, Fatma Dedeoglu, Peter A. Nigrovic, Akiko Shimamura, R. Grant Rowe, Megan A. Cooper, Tiphanie P. Vogel, Miriah Gillispie‐Taylor, Rosemary Peterson, Clara Lin, Katherine D. Nowicki, Kaylee Dollerschell, Taizo A. Nakano, Roxane Labrosse, Alexis‐Virgil Cochino, Andreea Ioan, Leonardo Oliveira Mendonca, Samar Freschi Barros, Jorge Kalil, Javier Perez‐Rojas, Alicia Diaz‐Kuan, Eric S. Sobel, Taha Moussa, Samuel Shang Ming Lee, Li Wearn Koh, Archana Khan, Sodality Sutnga, Raju Khubchandani, Walaa Shoman, Yasmine El Chazli, Benzeeta Pinto, Chengappa Kavadichanda, Roshini S. Abraham, Xiangwei Sun, Qing Zhou, Gsrsnk Naidu, Aman Sharma, Carl Esperanzate, Daniel L. Kastner, Ivona Aksentijevich, Susan J. Kelly, Michael Hershfield, Teresa K. Tarrant, Pui Y. Lee   +55 more
wiley   +1 more source

Efeito da densidade populacional sobre desempenho, rendimento de carcaça e qualidade da carne em frangos de corte de diferentes linhagens comerciais Effect of stocking density on performance, carcass yield and meat quality in broilers of different commercial strains

Revista Brasileira de Zootecnia, 2004
O trabalho foi realizado objetivando-se avaliar o efeito da densidade populacional e da linhagem sobre as características de desempenho, o rendimento de carcaça e a qualidade da carne de peito (perda de peso por cozimento, força de cizalhamento e pH) em ...
Joerley Moreira, Ariel Antônio Mendes, Roberto de Oliveira Roça, Edivaldo Antônio Garcia, Irenilza de Alencar Naas, Rodrigo Garófallo Garcia, Ibiara Correia Lima de Almeida Paz   +6 more
doaj   +1 more source

Differential Contribution of Subunit Interfaces to α 9 α 10 Nicotinic Acetylcholine Receptor Function [PDF]

, 2017
Nicotinic acetylcholine receptors can be assembled from either homomeric or heteromeric pentameric subunit combinations. At the interface of the extracellular domains of adjacent subunits lies the acetylcholine binding site, composed of a principal ...
Boffi, Juan Carlos, Bouzat, Cecilia Beatriz, Collins, Toby, Corradi, Jeremias, Craig, Patricio Oliver, Elgoyhen, Ana Belen, Gill Thind, JasKiran K., Lipovsek, Maria Marcela, Marcovich, Irina, Millar, Neil S., Moglie, Marcelo Javier, Plazas, Paola Viviana   +11 more
core   +3 more sources

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Cáncer de mama en seis familias del Tolima y el Huila: mutación BRCA1 3450del4

Biomédica: revista del Instituto Nacional de Salud, 2020
Introducción. El cáncer de mama es un problema mundial de salud pública; entre el 5 y el 10 % de los casos presentan agregación familiar, lo que se explicaría por la presencia de mutaciones en genes de alto riesgo como el BRCA1 y el BRCA2.
Jennyfer Benavides, Jonh Suárez, Ana Estrada, Mábel Bohórquez, Carolina Ramírez, Justo Olaya, Yesid Sánchez, Gilbert Mateus, Luis Carvajal, María Magdalena Echeverry   +9 more
doaj   +1 more source

Identifying Key Biodiversity Areas Based on Distinct Genetic Diversity. [PDF]

Mol Ecol Resour
ABSTRACT Key Biodiversity Areas (KBAs) are sites that contribute significantly to the global persistence of biodiversity. Distinct genetic diversity has been introduced as one of the metrics to estimate whether a site holds a threshold proportion of a species' global genetic diversity during the KBA identification process.
Gronefeld SC, López H, Schmidt R, Hochkirch A.   +3 more
europepmc   +2 more sources