Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Carlos E. Speck-Martins"'
Autor:
Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generat
Externí odkaz:
https://doaj.org/article/96cf025b67e84cd9944cad361424728a
Autor:
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli, Elizabeth C. Engle
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
During embryogenesis, the cytoplasmic protein Myomarker (MYMK) mediates muscle fibre formation by fusion of myoblasts. Here, the authors identify autosomal recessive mutations in MYMK that cause Carey-Fineman-Ziter syndrome in humans, and model the d
Externí odkaz:
https://doaj.org/article/64436425aef44e6d84ebe13cff020fd4
Publikováno v:
Am J Med Genet A
Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we rep
Autor:
Rosanna Pescini-Gobert, Luciano Farage, Mathieu Quinodoz, Stefan Mundlos, Srilakshmi Rajagopal, Andreas Magg, Sara Balzano, Phillip Grote, Wing Lee Chan, Alessa R. Ringel, Daniel R. Carvalho, Malte Spielmann, Sheila Unger, Belinda Campos-Xavier, Giulia Cova, Regina Albuquerque, Beryl Royer-Bertrand, Florence Niel-Bütschi, Sheela Nampoothiri, Michael I. Robson, Charles Marques Lourenço, Bernd Timmermann, Guillaume Andrey, Carlo Rivolta, Carlos E. Speck-Martins, Lars Wittler, Verena Heinrich, Cesar Augusto Prada-Medina, Luisa Bonafé, Andrea Superti-Furga, Lila Allou, Robert Schöpflin, Carole Chiesa
Publikováno v:
Nature (2021)
Nature
Nature
Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks1, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show that genetic ablation of a lncRNA locus on human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97517091f766d74245c65c68bee42eaa
https://archive-ouverte.unige.ch/unige:149472
https://archive-ouverte.unige.ch/unige:149472
Autor:
Carlos E. Speck-Martins, Ana Luiza Villa a Coelho, Nilo Sakai, Kikue Terada Abe, Daniel R. Carvalho, Isabela M. P. O. Rizzo
Publikováno v:
Clinical Case Reports
Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we
Autor:
Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generat
Autor:
Julie Hoover-Fong, David Valle, Andres Dufke, Ethylin Wang Jabs, Jeske J.T. van Harssel, John C. Carey, Nara Sobreira, Angela Robles, Carlos E. Speck-Martins, Aida Telegrafi, Bryn D. Webb, Irini Manoli, Leah Fleming, Alain Verloes, Sarah M. Robbins, Richard J. Redett, Gunnar Houge, Elizabeth C. Engle, David R. FitzPatrick
Publikováno v:
Telegrafi, A, Webb, B D, Robbins, S M, Speck-Martins, C E, FitzPatrick, D, Fleming, L, Redett, R, Dufke, A, Houge, G, van Harssel, J J T, Verloes, A, Robles, A, Manoli, I, Engle, E C, Jabs, E W, Valle, D, Carey, J & Hoover-Fong, J E & Sobreira, N L M 2017, ' Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome ', American Journal of Medical Genetics Part A, vol. 173, no. 10 . https://doi.org/10.1002/ajmg.a.38375
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d93adbbef6bd9aa8fc4724efede0f0
https://www.pure.ed.ac.uk/ws/files/43747134/Identification_of_STAC3_variants_in_non_Native_American_families_with_overlapping_features_of_Carey_Fineman_Ziter_syndrome_and_Moebius_syndrome.docx
https://www.pure.ed.ac.uk/ws/files/43747134/Identification_of_STAC3_variants_in_non_Native_American_families_with_overlapping_features_of_Carey_Fineman_Ziter_syndrome_and_Moebius_syndrome.docx
Autor:
Reinaldo I. Takata, Jaime M. Brum, Savana Camilla Lima Santos, Claudio Sollaci, Carlos E. Speck-Martins, Isabela M. P. O. Rizzo
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%–90% of patients. The EXT1 is more often mutated t
Autor:
Sandra Bermeo, Reinaldo I. Takata, Garth A. Nicholson, Carolyn Ly, Mamdouh Khalil, Marina L. Kennerson, Roxana M. Llanos, Sharon La Fontaine, Alleene V. Strickland, Aditi Kidambi, A.J. Grant, Melina Ellis, Elysia Neist, Gonzalo Perez-Siles, Stephan Züchner, Tara C. Brennan-Speranza, Julian F.B. Mercer, Carlos E. Speck-Martins
ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1347793b8682b301f860781a2cfd6f8
https://europepmc.org/articles/PMC5586149/
https://europepmc.org/articles/PMC5586149/
Autor:
Carlos E. Speck-Martins, Jaime M. Brum, Daniel R. Carvalho, Luciano Farage, Bernardo Jaf Martins, Riccardo Pratesi
Publikováno v:
Journal of Neuroimaging. 24:155-160
BACKGROUND AND PURPOSE Hyperargininemia (HA) is a rare autosomal recessive metabolic disorder and the neuroimaging features of this disease have seldom been reported. Hyperammonemic encephalopathy is uncommon in HA, and the clinical presentation of H