Zobrazeno 1 - 10 of 115 pro vyhledávání: '"Carlos E Prada"'
1
Akademický článek
Case report: Childhood erythrocytosis due to hypermanganesemia caused by homozygous SLC30A10 mutation
Autor: Tiziana Coppola, Hannah Hughes, Paul T. Finch, Joshua A. Hess, Steve Wu, Carlos E. Prada, Alexander G. Miethke, Wenying Zhang, Theodosia A. Kalfa
Publikováno v: Frontiers in Hematology, Vol 3 (2024)
We present a rare case of erythrocytosis due to a homozygous SLC30A10 mutation, causative of Hypermanganesemia with Dystonia, Polycythemia, and Cirrhosis (HMDPC). The patient presented at 7 years of age with the incidental finding of hemoglobin up to
Externí odkaz: https://doaj.org/article/019536f75d084770ab9ebdf3bd8be156
Zobrazit plný text záznamu
2
Akademický článek
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development
Autor: Eliyahu Perl, Padmapriyadarshini Ravisankar, Manu E. Beerens, Lejla Mulahasanovic, Kelly Smallwood, Marion Bermúdez Sasso, Carina Wenzel, Thomas D. Ryan, Matej Komár, Kevin E. Bove, Calum A. MacRae, K. Nicole Weaver, Carlos E. Prada, Joshua S. Waxman
Publikováno v: HGG Advances, Vol 3, Iss 3, Pp 100115- (2022)
Summary: Requirements for vesicle fusion within the heart remain poorly understood, despite the multitude of processes that necessitate proper intracellular trafficking within cardiomyocytes. Here, we show that Syntaxin 4 (STX4), a target-Soluble N-e
Externí odkaz: https://doaj.org/article/69a4013e43b2410292ce66f8fe329a35
Zobrazit plný text záznamu
4
Akademický článek
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
Autor: Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Publikováno v: HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)
Summary: We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and si
Externí odkaz: https://doaj.org/article/b7eeb57bf1484bb7b4de6d3ef729ce71
Zobrazit plný text záznamu
6
Akademický článek
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation
Autor: Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100763- (2021)
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluid
Externí odkaz: https://doaj.org/article/c5df38af4c9146aeb10fddb2dd104490
Zobrazit plný text záznamu
7
Akademický článek
Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon
Autor: Mary Jo Talley, Diana Nardini, Nisha Shabbir, Lisa A. Ehrman, Carlos E. Prada, Ronald R. Waclaw
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
The leucine zipper-like transcriptional regulator 1 (Lztr1) is a BTB-Kelch domain protein involved in RAS/MAPK pathway regulation. Mutations in LZTR1 are associated with cancers and Noonan syndrome, the most common RASopathy. The expression and funct
Externí odkaz: https://doaj.org/article/0a4872daf0664f08965455ed5f1ca5f6
Zobrazit plný text záznamu
9
Akademický článek
Hipercolesterolemia familiar: artículo de revisión
Autor: Alonso Merchán, Álvaro J. Ruiz, Rafael Campo, Carlos E. Prada, Juan M. Toro, Robinson Sánchez, Juan E. Gómez, Nicolás I. Jaramillo, Dora I. Molina, Hernando Vargas-Uricoechea, Sherien Sixto, Javier M. Castro, Adalberto E. Quintero, Mauricio Coll, Stase Slotkus, Andrés Ramírez, Harry Pachajoa, Fernando A. Ávila, Rodrigo Alonso K
Publikováno v: Revista Colombiana de Cardiología, Vol 23, Iss S4, Pp 4-26 (2016)
La hipercolesterolemia familiar (HF) es una alteración de origen genético que clínicamente se puede manifestar desde el nacimiento y que se caracteriza por niveles plasmáticos anormalmente altos de colesterol LDL (cLDL) y por una elevada tasa de
Externí odkaz: https://doaj.org/article/69135c81bf0944f38d1944937afe9be5
Zobrazit plný text záznamu
10
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Autor: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
Publikováno v: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142
Chromatinopathy; Syndromic neurodevelopmental disorder; Syndromic obesity Cromatinopatia; Trastorn sindròmic del neurodesenvolupament; Obesitat sindròmica Cromatinopatía; Trastorno sindrómico del neurodesarrollo; Obesidad sindrómica Purpose Prot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8e
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje