Zobrazeno 1 - 10
of 47
pro vyhledávání: '"M A Moreno-Pelayo"'
Autor:
Anna-Lena Forst, Matías Morín, M A Moreno-Pelayo, Jose Luis López-Sendón Moreno, Adriano Jiménez-Escrig, Verónica Barca-Tierno, Paula Pérez-Torre, Eva García-Galloway, Richard Warth
Publikováno v:
neurogenetics. 21:135-143
KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensori
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04b6b231433c18c040c039f080c6e770
https://doi.org/10.1007/s10048-020-00605-6
https://doi.org/10.1007/s10048-020-00605-6
Publikováno v:
Genes
Volume 12
Issue 3
Genes, Vol 12, Iss 411, p 411 (2021)
Volume 12
Issue 3
Genes, Vol 12, Iss 411, p 411 (2021)
Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f00823afd0ee8e4d06bd0cc0fcdde3e
Autor:
Marta Cantero, Lluis Montoliu, María Jesús del Hierro, Santiago Josa, Diego Muñoz-Santos, Matías Morín, Marcos Rubio-Fernández, Almudena Fernández, Marta Castrillo, Andrea Montero, M A Moreno-Pelayo, Julia Fernández
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
The simple protocol described in this article aims to provide all required information, as a comprehensive, easy‐to‐follow step‐by‐step method, to ensure the generation of the expected genome‐edited mice. Here, we provide protocols for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2aa811279611a5e4cd7e38b0d1b5b64
https://pubmed.ncbi.nlm.nih.gov/32159922
https://pubmed.ncbi.nlm.nih.gov/32159922
Autor:
Joaquín Fernández-Toral, Francisco J. del Castillo, Marta Gandía, Manuela Villamar, M A Moreno-Pelayo, María Domínguez-Ruiz, Ignacio del Castillo, Elena Gómez-Rosas, J Solanellas
Publikováno v:
Pediatric Research. 78:97-102
PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis. Different missense mutations in PRPS1 cause a variety of disorders that include PRS-I superactivity, nonsyndromic sensorineural hearin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49598bfbff6351edebbb6b75035e7fd4
https://doi.org/10.1038/pr.2015.56
https://doi.org/10.1038/pr.2015.56
Autor:
Wolfgang W. A. Schamel, Eduardo López-Granados, Joaquín Navarro, José R. Regueiro, Marlena Duchniewicz, Elena M. Busto, Andrea Diaz-Alderete, Kerstin Höhne, Maria Cruz García-Rodríguez, Beatriz Garcillán, Cristina Beléndez, Isabel Gordillo, Juana Gil, Maria J. Recio, Eduardo Fernández-Cruz, Carmen Chean, Ángeles Mencía, Félix García-Sánchez, M A Moreno-Pelayo, Jesús Reiné, Dolores Gurbindo
Publikováno v:
Journal of Clinical Investigation. 121:3872-3876
T cells recognize antigens via their cell surface TCR and are classified as either αβ or γδ depending on the variable chains in their TCR, α and β or γ and δ, respectively. Both αβ and γδ TCRs also contain several invariant chains, includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69853c8b4952c43edb37872287a02d03
https://doi.org/10.1172/jci44254
https://doi.org/10.1172/jci44254
Autor:
M A Moreno-Pelayo, Alberquilla Omaira, Sara Fañanas-Baquero, Daniel P. Dever, Matías Morín, Joab Camarena, Oscar Quintana Bustamante, Rebeca Sanchez-Dominguez, Juan A. Bueren, Val Fernandez, Matthew H. Porteus, José C. Segovia
Publikováno v:
Blood. 132:5792-5792
Pyruvate kinase deficiency (PKD) is the most common erythroid inherited enzymatic defect causing chronic nonspherocytic hemolytic anemia. PKD is an autosomal recessive disorder caused by mutations in the PKLR gene, which led in a total or partial red
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5425865b84703807cad0480675222d8b
https://doi.org/10.1182/blood-2018-99-111772
https://doi.org/10.1182/blood-2018-99-111772
Autor:
Keith E. Bryan, M A Moreno-Pelayo, Richard J. Goodyear, Matías Morín, Silvia Modamio-Høybjør, Ángeles Mencía, Jessica M. Cabalka, Ignacio del Castillo, Guy P. Richardson, Felipe Moreno, Peter A. Rubenstein, Fernando Mayo-Merino
Publikováno v:
Human Molecular Genetics. 18:3075-3089
Here we report the functional assessment of two novel deafness-associated gamma-actin mutants, K118N and E241K, in a spectrum of different situations with increasing biological complexity by combining biochemical and cell biological analysis in yeast
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59b698273afd31202f5cd305bffd80f6
https://doi.org/10.1093/hmg/ddp249
https://doi.org/10.1093/hmg/ddp249
Autor:
Leticia Olavarrieta, Matías Morín, Tamas Dalmay, Nick Redshaw, Karen P. Steel, Ángeles Mencía, Ignacio del Castillo, Felipe Moreno, Fernando Mayo-Merino, Luis A. Aguirre, Silvia Modamio-Høybjør, M A Moreno-Pelayo
Publikováno v:
Nature Genetics. 41:609-613
Miguel Moreno-Pelayo and colleagues report mutations in the seed region of human miR-96 segregating with progressive hearing loss in two families. In an accompanying paper, Karen Steel and colleagues show that the mouse diminuendo mutant, which also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b38531b96086ceca65c434a68e5391f7
https://doi.org/10.1038/ng.355
https://doi.org/10.1038/ng.355
Autor:
Martin Hrabé de Angelis, Morag A. Lewis, Anton J. Enright, Karen P. Steel, Stijn van Dongen, Cordelia Langford, Tamas Dalmay, Anne M Glazier, Nick Redshaw, Cei Abreu-Goodger, M A Moreno-Pelayo, Elizabeth Quint, Helmut Fuchs, Matias Piipari
Publikováno v:
Nature genetics
Progressive hearing loss is common in the human population, but little is known about the molecular basis. We report a new N-ethyl-N-nitrosurea (ENU)-induced mouse mutant, diminuendo, with a single base change in the seed region of Mirn96. Heterozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c21de3e5c44470e6fe38ff5f70860a76
http://europepmc.org/articles/PMC2705913
http://europepmc.org/articles/PMC2705913
Autor:
Ángeles Mencía, Richard J. Goodyear, M A Moreno-Pelayo, Silvia Modamio-Høybjør, Leticia Olavarrieta, Felipe Moreno, P. Kevin Legan, Guy P. Richardson
Publikováno v:
Journal of the Association for Research in Otolaryngology. 9:202-214
The TECTA gene encodes alpha-tectorin (TECTA), a major noncollagenous component of the tectorial membrane (TM). In humans, mutations in TECTA lead to either dominant (DFNA8/A12) or recessive (DFNB21) forms of nonsyndromic hearing loss. All missense m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2a09fc7bfe053c00b6b3f1685c09ea6
https://doi.org/10.1007/s10162-008-0116-0
https://doi.org/10.1007/s10162-008-0116-0