|
1.
|
|
6 p, 1.6 MB |
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
/
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Pagola-Lorz, Inma (Instituto de Investigación Sanitaria de Navarra) ;
Fuentes Prior, Pablo (Institut d'Investigació Biomèdica Sant Pau) ;
Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ;
Rodriguez, María José (Institut d'Investigació Biomèdica Sant Pau) ;
Torné, L. (Neurology Department. Complejo Universitario de Navarra. IdisNa) ;
Salgado Garrido, J. (Instituto de Investigación Sanitaria de Navarra) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Jericó, Ivonne (Instituto de Investigación Sanitaria de Navarra)
The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. [...]
2021 -  10.1002/acn3.51265
Annals of Clinical and Translational Neurology, Vol. 8 Núm. 1 (january 2021) , p. 294-299
|
|
|
2.
|
|
14 p, 5.6 MB |
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances
/
Monteagudo-Sánchez, A. (Institut d'Investigació Biomèdica de Bellvitge) ;
Hernandez Mora, J. R. (Institut d'Investigació Biomèdica de Bellvitge) ;
Simon, C. (Department of Obstetrics and Gynecology. BIDMC. Harvard University) ;
Burton, A. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ;
Tenorio, Jair (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Lapunzina, Pablo (ITHACA. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability) ;
Clark, S. (Epigenetics Programme. The Babraham Institute) ;
Esteller, M. (Centro de Investigación Biomédica en Red de Cáncer) ;
Kelsey, G. (University of Cambridge. Centre for Trophoblast Research) ;
López-Siguero, J. P. (Hospital Regional Universitario Carlos Haya (Málaga)) ;
De Nanclares, G. P. (Instituto de Investigación Sanitaria Bioaraba (Vitoria, País Basc)) ;
Torres-Padilla, M. E. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ;
Monk, D. (University of East Anglia. Biomedical Research Centre) ;
Universitat Autònoma de Barcelona
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation that is resistant to embryonic reprogramming, resulting in parental origin-specific monoallelic gene expression. [...]
2020 - 10.1093/nar/gkaa837
Nucleic acids research, Vol. 48 Núm. 20 (18 2020) , p. 11394-11407
|
|
|
3.
|
|
9 p, 3.1 MB |
Assessment of kinship detection using RNA-seq data
/
Blay, Natalia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Casas Masnou, Eduard (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Galván-Femenía, Iván (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Graffelman, Jan (Department of Biostatistics, University of Washington) ;
de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Vavouri, Tanya (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
Analysis of RNA sequencing (RNA-seq) data from related individuals is widely used in clinical and molecular genetics studies. Prediction of kinship from RNA-seq data would be useful for confirming the expected relationships in family based studies and for highlighting samples from related individuals in case-control or population based studies. [...]
2019 - 10.1093/nar/gkz776
Nucleic acids research, Vol. 47 (september 2019) , p. e136
|
|
|
4.
|
|
14 p, 2.6 MB |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
/
Olive, Montse (Institut d'Investigació Biomèdica de Bellvitge) ;
Engvall, Martin (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Ravenscroft, Gianina (University of Western Australia. Harry Perkins Institute of Medical Research) ;
Cabrera-Serrano, Macarena (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jiao, Hong (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Bortolotti, Carlo Augusto (University of Modena and Reggio Emilia) ;
Pignataro, Marcello (University of Modena and Reggio Emilia) ;
Lambrughi, Matteo (University of Modena and Reggio Emilia) ;
Jiang, Haibo (The University of Western Australia) ;
Forrest, Alistair R. R. (University of Western Australia. Harry Perkins Institute of Medical Research) ;
Benseny Cases, Núria (ALBA Laboratori de Llum de Sincrotró) ;
Hofbauer, Stefan (BOKU-University of Natural Resources and Life Sciences) ;
Obinger, Christian (BOKU-University of Natural Resources and Life Sciences) ;
Battistuzzi, Gianantonio (University of Modena and Reggio Emilia) ;
Bellei, Marzia (University of Modena and Reggio Emilia) ;
Borsari, Marco (University of Modena and Reggio Emilia) ;
Di Rocco, Giulia (University of Modena and Reggio Emilia) ;
Viola, Helena M. (The University of Western Australia) ;
Hool, Livia C. (Victor Chang Cardiac Research Institute) ;
Cladera i Cerdà, Josep (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Lagerstedt-Robinson, Kristina (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Xiang, Fengqing (Karolinska Institutet (Estocolm, Suècia)) ;
Wredenberg, Anna (Karolinska Institutet (Estocolm, Suècia)) ;
Miralles, Francesc (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Baiges, Juanjo (Hospital de Tortosa Verge de la Cinta) ;
Malfatti, Edoardo (Centre de Référence de Pathologie Neuromusculaire Paris-Est) ;
Romero, Norma B. (Centre de Référence de Pathologie Neuromusculaire Paris-Est) ;
Streichenberger, Nathalie (Université Claude Bernard Lyon) ;
Vial, Christophe (Electromyographie-Groupement Hospitalier Est) ;
Claeys, Kristl G. (KU Leuven-University of Leuven) ;
Straathof, Chiara S. M. (Leiden University Medical Center) ;
Goris, An (KU Leuven-University of Leuven) ;
Freyer, Christoph (Karolinska Institutet (Estocolm, Suècia)) ;
Lammens, Martin (Radboud University Medical Center) ;
Bassez, Guillaume (East-Paris University (UPEC)) ;
Kere, Juha (King's College London) ;
Clemente, Paula (Karolinska Institutet (Estocolm, Suècia)) ;
Sejersen, Thomas (Karolinska Institutet (Estocolm, Suècia)) ;
Udd, Bjarne (Tampere University Hospital) ;
Vidal, Noemí (Institut d'Investigació Biomèdica de Bellvitge) ;
Ferrer, Isidro (Universitat de Barcelona) ;
Edström, Lars (Karolinska Institutet (Estocolm, Suècia)) ;
Wedell, Anna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Laing, Nigel G. (University of Western Australia. Harry Perkins Institute of Medical Research)
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. [...]
2019 - 10.1038/s41467-019-09111-2
Nature communications, Vol. 10 (March 2019) , art. 1396
|
|
|
5.
|
|
36 p, 10.5 MB |
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
/
Malone, Samuel Andrew (Jean-Pierre Aubert Research Center) ;
Papadakis, Georgios E. (Lausanne University Hospital) ;
Messina, Andrea (Lausanne University Hospital) ;
Mimouni, Nour El Houda (Jean-Pierre Aubert Research Center) ;
Trova, Sara (Jean-Pierre Aubert Research Center) ;
Imbernon, Monica (Jean-Pierre Aubert Research Center) ;
Allet, Cecile (Jean-Pierre Aubert Research Center) ;
Cimino, Irene (Jean-Pierre Aubert Research Center) ;
Acierno, James (Lausanne University Hospital) ;
Cassatella, Daniele (Lausanne University Hospital) ;
Xu, Cheng (Lausanne University Hospital) ;
Quinton, Richard (University of Newcastle-upon-Tyne. Institute of Genetic Medicine) ;
Szinnai, Gabor (University Children's Hospital Basel (Basilea, Suïssa)) ;
Pigny, Pascal (Centre de Biologie Pathologie Génétique. Service Hormonologie Métabolisme Nutrition Oncologie) ;
Alonso-Cotchico, Lur (Universitat Autònoma de Barcelona. Departament de Química) ;
Masgrau, Laura (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Maréchal, Jean-Didier (Universitat Autònoma de Barcelona. Departament de Química) ;
Prevot, V. (Jean-Pierre Aubert Research Center) ;
Pitteloud, Nelly (Lausanne University Hospital) ;
Giacobini, Polo (Jean-Pierre Aubert Research Center)
Congenital hypogonadotropic hypogonadism (CHH) is a condition characterized by absent puberty and infertility due to gonadotropin releasing hormone (GnRH) deficiency, which is often associated with anosmia (Kallmann syndrome, KS). [...]
2019 - 10.7554/eLife.47198
eLife, Vol. 8 (2019) , art. e47198
|
|
|
6.
|
|
|
7.
|
|
6 p, 2.2 MB |
Probabilidad de detección de pedigrees erróneos mediante polimorfismos bioquímicos en razas caninas españolas
/
Jordana i Vidal, Jordi dir. (Universitat Autònoma de Barcelona. Departament de Patologia i de Producció Animals) ;
Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Patologia i de Producció Animals) ;
Piedrafita Arilla, Jesús (Universitat Autònoma de Barcelona. Departament de Patologia i de Producció Animals)
Mediante técnicas convencionales de electroforesis, se realiza un estudio poblacional de once marcadores genéticos sanguíneos -polimorfismos bioquímicos- para un total de 484 individuos, pertenecientes a diez razas caninas españolas. [...]
A total of 11 genetic loci encoding enzymes and other blood proteins has been assayed by conventional techniques al electrophoresis in 484 indiuiduals, belonging to 10 spanish breeds of dogs. In each breed the information provided by the values of the allelic frequencies in the 11 polymorphic systems can be used to assess the probabilities to detect erroneous pedigrees. [...]
1990
Clínica veterinaria de pequeños animales, Vol. 10, Núm. 3 (julio septiembre 1990) , p. 67-72
|
|
visitant ::
identificació
alerta personal via correu electrònic o subscribiu-vos al 
canal RSS.
