Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Alexandra M, Lopes"'
Autor:
Brendan J. Houston, Joseph Nguyen, D. Jo Merriner, Anne E. O’Connor, Alexandra M. Lopes, Liina Nagirnaja, Corinna Friedrich, Sabine Kliesch, Frank Tüttelmann, Kenneth I. Aston, Donald F. Conrad, Robin M. Hobbs, Jessica E. M. Dunleavy, Moira K. O’Bryan
Publikováno v:
Cell Death and Disease, Vol 15, Iss 7, Pp 1-14 (2024)
Abstract Dynein complexes are large, multi-unit assemblies involved in many biological processes via their critical roles in protein transport and axoneme motility. Using next-generation sequencing of infertile men presenting with low or no sperm in
Externí odkaz:
https://doaj.org/article/38d67cff45b24f41b04e0df254fa2667
Autor:
Daniela Felício, Andreia Dias, Sandra Martins, Estefânia Carvalho, Alexandra M. Lopes, Nádia Pinto, Carolina Lemos, Mariana Santos, Miguel Alves-Ferreira
Publikováno v:
The Journal of Headache and Pain, Vol 24, Iss 1, Pp 1-7 (2023)
Abstract Migraine is a common and complex neurological disease potentially caused by a polygenic interaction of multiple gene variants. Many genes associated with migraine are involved in pathways controlling the synaptic function and neurotransmitte
Externí odkaz:
https://doaj.org/article/99d01bb37c1441798b159c5e6deff1eb
Autor:
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, João Gonçalves, Christina A. Gurnett, Niels Jørgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert I. McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay I. Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O’Bryan, Peter N. Schlegel, Frank Tüttelmann, Joris A. Veltman, Kristian Almstrup, Kenneth I. Aston, Donald F. Conrad
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
The GEMINI consortium sequenced 1,000 cases of idiopathic male infertility and identified a plausible Mendelian cause in 20% of cases. The infertility genes can be grouped by expression pattern, facilitating their interpretation and follow-up.
Externí odkaz:
https://doaj.org/article/d33757f275f346459883626f17daf68f
Autor:
Miriam Cerván-Martín, Frank Tüttelmann, Alexandra M. Lopes, Lara Bossini-Castillo, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, José A. Castilla, M. Carmen Gonzalvo, Ana Clavero, Vicente Maldonado, F. Javier Vicente, Sara González-Muñoz, Andrea Guzmán-Jiménez, Miguel Burgos, Rafael Jiménez, Alberto Pacheco, Cristina González, Susana Gómez, David Amorós, Jesus Aguilar, Fernando Quintana, Carlos Calhaz-Jorge, Ana Aguiar, Joaquim Nunes, Sandra Sousa, Isabel Pereira, Maria Graça Pinto, Sónia Correia, Josvany Sánchez-Curbelo, Olga López-Rodrigo, Javier Martín, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Jörg Gromoll, Lluís Bassas, Susana Seixas, João Gonçalves, Sara Larriba, Sabine Kliesch, Rogelio J. Palomino-Morales, F. David Carmona
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-13 (2022)
A GWAS in a large case-control cohort of European ancestry identifies two genomic regions, the MHC class II gene HLA-DRB1 and an upstream locus of VRK1, that are associated with the most severe phenotype of spermatogenic failure.
Externí odkaz:
https://doaj.org/article/77b3fe3532a14229aef1e788bb1d7f9d
Autor:
Andrea Guzmán-Jiménez, Sara González-Muñoz, Miriam Cerván-Martín, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Luján, Samuel Santos-Ribeiro, José A. Castilla, M. Carmen Gonzalvo, Ana Clavero, F. Javier Vicente, Vicente Maldonado, Javier Villegas-Salmerón, Miguel Burgos, Rafael Jiménez, Maria Graça Pinto, Isabel Pereira, Joaquim Nunes, Josvany Sánchez-Curbelo, Olga López-Rodrigo, Iris Pereira-Caetano, Patricia Isabel Marques, Filipa Carvalho, Alberto Barros, Lluís Bassas, Susana Seixas, João Gonçalves, Alexandra M. Lopes, Sara Larriba, Rogelio J. Palomino-Morales, F. David Carmona, Lara Bossini-Castillo, IVIRMA Group, Lisbon Clinical Group
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstr
Externí odkaz:
https://doaj.org/article/888486e3bcaf4088a22f990d7ff53f24
Autor:
Aarón Maturana-Candelas, Carlos Gómez, Jesús Poza, Víctor Rodríguez-González, Vìctor Gutiérrez-de Pablo, Alexandra M. Lopes, Nadia Pinto, Roberto Hornero
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract PICALM and CLU genes have been linked to alterations in brain biochemical processes that may have an impact on Alzheimer’s disease (AD) development and neurophysiological dynamics. The aim of this study is to analyze the relationship betwe
Externí odkaz:
https://doaj.org/article/423038260bbe434fb7ac969a84cfc292
Autor:
Miriam Cerván-Martín, Lara Bossini-Castillo, Andrea Guzmán-Jimenez, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Luján, Gema Romeu, Samuel Santos-Ribeiro, IVIRMA Group, Lisbon Clinical Group, José A. Castilla, M. Carmen Gonzalvo, Ana Clavero, F. Javier Vicente, Vicente Maldonado, Sara González-Muñoz, Inmaculada Rodríguez-Martín, Miguel Burgos, Rafael Jiménez, Maria Graça Pinto, Isabel Pereira, Joaquim Nunes, Josvany Sánchez-Curbelo, Olga López-Rodrigo, Iris Pereira-Caetano, Patricia Isabel Marques, Filipa Carvalho, Alberto Barros, Lluís Bassas, Susana Seixas, João Gonçalves, Sara Larriba, Alexandra M. Lopes, F. David Carmona, Rogelio J. Palomino-Morales
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 6, p 932 (2022)
We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk
Externí odkaz:
https://doaj.org/article/7a24ea05e5c342a682a99a88c7c0494e
Autor:
Estefânia Carvalho, Andreia Dias, Alda Sousa, Alexandra M. Lopes, Sandra Martins, Nádia Pinto, Carolina Lemos, Miguel Alves-Ferreira
Publikováno v:
Brain Sciences, Vol 12, Iss 5, p 526 (2022)
Migraine is a complex neurovascular disorder affecting one billion people worldwide, mainly females. It is characterized by attacks of moderate to severe headache pain, with associated symptoms. Receptor activity modifying protein (RAMP1) is part of
Externí odkaz:
https://doaj.org/article/c2b9c983dcc64f9eb11535a14367edda
Autor:
Brendan J. Houston, Alexandra M. Lopes, Maris Laan, Liina Nagirnaja, Anne E. O'Connor, D. Jo Merriner, Joseph Nguyen, Margus Punab, Antoni Riera-Escamilla, Csilla Krausz, Kenneth Ivan Aston, Donald F. Conrad, Moira K. O'Bryan
Publikováno v:
DEVELOPMENTAL BIOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Male infertility is a common condition affecting at least 7% of men worldwide and is often genetic in origin. Using whole exome sequencing, we recently discovered three hemizygous, likely damaging variants in DDB1- and CUL4-associated factor 12-like
Autor:
Brendan J. Houston, D. Jo Merriner, G. Gemma Stathatos, Anne E. O’Connor, Alexandra M. Lopes, Donald F. Conrad, Mark Baker, Jessica E.M. Dunleavy, Moira K. O’Bryan
The transition zone is a specialised gate at the base of cilia/flagella, which segregates the ciliary compartment from the cytoplasm and strictly regulates protein entry. In this study, we have identified CEP76 as an essential germ cell transition zo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::079320534b1c4bfab755a5b6ba87487f
https://doi.org/10.1101/2023.03.08.531794
https://doi.org/10.1101/2023.03.08.531794