Search Results - "Perez Jurado, Luís A"

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability by Sáez, Mauricio A., Fernández-Rodríguez, Juana, Moutinho, Catia, Sanchez-Mut, Jose V., Gomez, Antonio, Vidal, Enrique, Petazzi, Paolo, Szczesna, Karolina, Lopez-Serra, Paula, Lucariello, Mario, Lorden, Patricia, Delgado-Morales, Raul, de la Caridad, Olga J., Huertas, Dori, Gelpí, Josep L., Orozco, Modesto, López-Doriga, Adriana, Milà, Montserrat, Perez-Jurado, Luís A., Pineda, Mercedes, Armstrong, Judith, Lázaro, Conxi, Esteller, Manel

“…Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett…”
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Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants by Souzeau, Emmanuelle, Siggs, Owen M., Pasutto, Francesca, Knight, Lachlan S. W., Perez‐Jurado, Luis A., McGregor, Lesley, Le Blanc, Shannon, Barnett, Christopher P., Liebelt, Jan, Craig, Jamie E.

“…Axenfeld‐Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2…”
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Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis by MICALE, Lucia, GIUSEPPINA TURTURO, Maria, MERLA, Giuseppe, FUSCO, Carmela, AUGELLO, Bartolomeo, PEREZ JURADO, Luis A, IZZI, Claudia, DIGILIO, Maria Cristina, MILANI, Donatella, LAPI, Elisabetta, ZELANTE, Leopoldo

“…Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as…”
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Extreme downregulation of chromosome Y and Alzheimer's disease in men by Caceres, Alejandro, Jene, Aina, Esko, Tonu, Perez-Jurado, Luis A., Gonzalez, Juan R.

“…Research has revealed scarcely any biological factors of Alzheimer's disease (AD) that are specific to men. Here, we found that the extreme downregulation of…”
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants by Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.

“…Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most…”
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Extreme Downregulation of Chromosome Y and Cancer Risk in Men by Cáceres, Alejandro, Jene, Aina, Esko, Tonu, Pérez-Jurado, Luis A, González, Juan R

“…Abstract Background Understanding the biological differences between sexes in cancer is essential for personalized treatment and prevention. We hypothesized…”
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NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders by Ruiz-Arenas, Carlos, Marín-Goñi, Irene, Wang, Liewei, Ochoa, Idoia, Pérez-Jurado, Luis A, Hernaez, Mikel

“…Grouping gene expression into gene set activity scores (GSAS) provides better biological insights than studying individual genes. However, existing gene set…”
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases by Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R, Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A, Beltran, Sergi

“…Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic…”
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One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology by Argente, Jesús, Chowen, Julie A, Pérez‐Jurado, Luis A, Frystyk, Jan, Oxvig, Claus

“…The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help…”
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NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine by Abulí, Anna, Boada, Montserrat, Rodríguez-Santiago, Benjamín, Coroleu, Buenaventura, Veiga, Anna, Armengol, Lluís, Barri, Pedro N., Pérez-Jurado, Luis A., Estivill, Xavier

“…ABSTRACT Next‐generation sequencing (NGS) has the capacity of carrier screening in gamete donation (GD) programs. We have developed and validated an NGS…”
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization by Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora

“…Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions…”
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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability by Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús

“…Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations…”
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Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family by Babiker, Amir, Al Noaim, Khalid, Al Swaid, Abdulrahman, Alfadhel, Majid, Deeb, Asma, Martín‐Rivada, Álvaro, Barrios, Vicente, Pérez‐Jurado, Luis A., Alfares, Ahmed, Al Alwan, Ibrahim, Argente, Jesús

“…In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss‐of‐function mutations in the gene encoding the…”
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Reply to ‘Mosaic loss of chromosome Y in leukocytes matters’ by Zhou, Weiyin, Machiela, Mitchell J., Freedman, Neal D., Rothman, Nathaniel, Malats, Nuria, Dagnall, Casey, Caporaso, Neil, Teras, Lauren T., Gaudet, Mia M., Gapstur, Susan M., Stevens, Victoria L., Jacobs, Kevin B., Sampson, Joshua, Albanes, Demetrius, Weinstein, Stephanie, Virtamo, Jarmo, Berndt, Sonja, Hoover, Robert N., Black, Amanda, Silverman, Debra, Figueroa, Jonine, Garcia-Closas, Montserrat, Real, Francisco X., Earl, Julie, Marenne, Gaelle, Rodriguez-Santiago, Benjamin, Karagas, Margaret, Johnson, Alison, Schwenn, Molly, Wu, Xifeng, Gu, Jian, Ye, Yuanqing, Hutchinson, Amy, Tucker, Margaret, Perez-Jurado, Luis A., Dean, Michael, Yeager, Meredith, Chanock, Stephen J.

“…[...] it was an observation from our laboratory that first identified the presence of genetic mosaicism in a population sample of 'healthy' individuals7…”
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Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome by Borralleras, Cristina, Sahun, Ignasi, Pérez-Jurado, Luis A, Campuzano, Victoria

“…Williams–Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26–28 genes at chromosome band 7q11.23. Haploinsufficiency…”
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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy by Corbett, Mark A., van Eyk, Clare L., Webber, Dani L., Bent, Stephen J., Newman, Morgan, Harper, Kelly, Berry, Jesia G., Azmanov, Dimitar N., Woodward, Karen J., Gardner, Alison E., Slee, Jennie, Pérez-Jurado, Luís A., MacLennan, Alastair H., Gecz, Jozef

“…Cerebral palsy (CP) is the most frequent movement disorder of childhood affecting 1 in 500 live births in developed countries. We previously identified likely…”
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DNA methylation abnormalities in congenital heart disease by Serra-Juhé, Clara, Cuscó, Ivon, Homs, Aïda, Flores, Raquel, Torán, Núria, Pérez-Jurado, Luis A

“…Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects…”
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Meta-analysis of heterogeneous Down Syndrome data reveals consistent genome-wide dosage effects related to neurological processes by Vilardell, Mireia, Rasche, Axel, Thormann, Anja, Maschke-Dutz, Elisabeth, Pérez-Jurado, Luis A, Lehrach, Hans, Herwig, Ralf

“…Down syndrome (DS; trisomy 21) is the most common genetic cause of mental retardation in the human population and key molecular networks dysregulated in DS are…”
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Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder by Segura-Puimedon, Maria, Sahún, Ignasi, Velot, Emilie, Dubus, Pierre, Borralleras, Cristina, Rodrigues, Ana J, Valero, María C, Valverde, Olga, Sousa, Nuno, Herault, Yann, Dierssen, Mara, Pérez-Jurado, Luis A, Campuzano, Victoria

“…Williams-Beuren syndrome is a developmental multisystemic disorder caused by a recurrent 1.55-1.83 Mb heterozygous deletion on human chromosome band 7q11.23…”
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Mutational Mechanisms of Williams-Beuren Syndrome Deletions by Bayés, Mònica, Magano, Luis F., Rivera, Núria, Flores, Raquel, A. Pérez Jurado, Luis

“…Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a heterozygous deletion of contiguous genes at 7q11.23. Three large…”
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