Zobrazeno 1 - 10
of 2 066
pro vyhledávání: '"B Romero"'
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103491- (2024)
Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymp
Externí odkaz:
https://doaj.org/article/3d5d74df28c54775a784033792ebea4b
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103411- (2024)
RYR1 variants are a common cause of congenital myopathies, including multi-minicore disease (MmD) and central core disease (CCD). Here, we generated iPSC lines from two CCD patients with dominant RYR1 missense variants that affect the transmembrane (
Externí odkaz:
https://doaj.org/article/a2f31142d3c04bd2b691d66e91321b37
Autor:
Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103410- (2024)
RYR1 variants are the most common genetic cause of congenital myopathies, and typically cause central core disease (CCD) and/or malignant hyperthermia (MH). Here, we generated iPSC lines from two patients with CCD and MH caused by dominant RYR1 varia
Externí odkaz:
https://doaj.org/article/83937e9ad64641f5b8a74afaa10b22c6
Autor:
Pragna N. Shetty, MD, MPH, Nina Mehta, BS, Joshua B. Romero, BA, Kamran Khan, MD, Lynn Damitz, MD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 12, Iss S5, Pp 10-11 (2024)
Externí odkaz:
https://doaj.org/article/ecd5dcfaaa624fd7af7a6435a96c08da
Autor:
Gabriela Cormick, Iris B Romero, María B Puchulu, Surya M Perez, Miriam Sosa, Lorena Garitta, Eliana Elizagoyen, Maria Fernanda Gugole, José M Belizán, Natalia Matamoros, Luz Gibbons
Publikováno v:
Public Health Nutrition, Vol 27 (2024)
Abstract Objective: To simulate the impact on calcium intake – effectiveness and safety – of fortifying wheat flour with 200, 400 and 500 mg of calcium per 100 g of flour. Design: Secondary analysis of cross-sectional data collected through re
Externí odkaz:
https://doaj.org/article/b529739f27da462089dd53caa92b9d44
Autor:
Alejandra B. Romero-Cabrera, Ana Lindo-Cavero, David Villarreal-Zegarra, Vilma Rodriguez, Matilde L. Luna-Matos, Wendoline N. Rojas-Mendoza, Jeff Huarcaya-Victoria, K. Vanesa Cuzcano-Gonzales, Christian Gonzales-Gavancho, Christoper A. Alarcon-Ruiz
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23327- (2024)
Background: During the first wave of the pandemic, a constant concern of healthcare workers, who are more vulnerable to contagion, is their personal safety. This is directly related to the availability of adequate PPE, which led to a perception of di
Externí odkaz:
https://doaj.org/article/b4b7cf12f39140d1a5bb29649bfe1fc3
Autor:
Karrison Driver, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103258- (2023)
Central core disease (CCD) is a congenital disorder that results in hypotonia, delayed motor development, and areas of reduced oxidative activity in the muscle fibre. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblasto
Externí odkaz:
https://doaj.org/article/b7c641e3388f4b1b896aa00fec23de72
Autor:
Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-10 (2023)
Abstract Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. I
Externí odkaz:
https://doaj.org/article/5fea3216d6b44beab3e6bcbaf02277ca
Autor:
Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala
Publikováno v:
JCI Insight, Vol 8, Iss 21 (2023)
Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations in these genes disrupt myosin structure and function leading to skeletal muscle myopathies t
Externí odkaz:
https://doaj.org/article/59ff4fd339fd4cbaa9a588a2470f9192
Autor:
David Villarreal-Zegarra, Milagros Cabrera-Alva, Juan Carlos Bazo-Alvarez, Sharlyn Otazú-Alfaro, Francesca Ramírez-Bontá, Rafaela Vásquez-Vílchez, Guillermo Almeida-Huanca, Juan Ambrosio-Melgarejo, Joel Figueroa-Quiñones, Alejandra B Romero-Cabrera, Anayeli Huaman-Santa Cruz, Esthefani Chávez-Hinostroza, Melanie Rosado-Medina, Wildo Siancas-Villano, Camilo Quintana-Castro
Publikováno v:
BMJ Open, Vol 13, Iss 10 (2023)
Background Mental health data from Latin America and the Caribbean countries (LACC) national and international surveys are essential for public health surveillance. This review aimed to identify and describe available mental health survey data in LAC
Externí odkaz:
https://doaj.org/article/e2c752dfcf944b63b63bd7ea18504651