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Articles, 13 records found
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Articles 13 records found  1 - 10next  jump to record:
1.
22 p, 4.7 MB Loss of microRNA-135b Enhances Bone Metastasis in Prostate Cancer and Predicts Aggressiveness in Human Prostate Samples / Olivan, M (Hospital Universitari Vall d'Hebron) ; García, Marta (Institut de Recerca Sant Joan de Déu) ; Suárez, Leticia (Hospital Universitari Vall d'Hebron) ; Guiu, Marc (Institut de Recerca Biomèdica) ; Gros, Laura (Hospital Universitari Vall d'Hebron) ; Méndez Fernández, Olga (Hospital Universitari Vall d'Hebron) ; Rigau, Marina (Hospital Universitari de Bellvitge) ; Reventós, Jaume (Hospital Universitari de Bellvitge) ; Segura, Miguel F. (Hospital Universitari Vall d'Hebron) ; de Torres, Inés (Hospital Universitari Vall d'Hebron) ; Planas, Jacques (Hospital Universitari Vall d'Hebron) ; de la Cruz, Xavier (Hospital Universitari Vall d'Hebron) ; Gomis, Roger R. (Hospital Universitari de Bellvitge) ; Morote Robles, Juan (Hospital Universitari Vall d'Hebron) ; Rodríguez-Barrueco, Ruth (Hospital Universitari de Bellvitge) ; Santamaría, Anna (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Prostate cancer (PCa) is the most prevalent cancer in males worldwide, and it was the fifth leading cause of cancer mortality in this group in 2020. Near 70% of advanced-stage PCa patients will undergo bone metastasis, suffering pathological complications that severely affect patients' quality of life and probably progress in most cases to lethal PCa. [...]
2021 - 10.3390/cancers13246202
Cancers, Vol. 13 (december 2021)  
2.
5 p, 2.4 MB Case report : characterizing the role of the STXBP2-R190C monoallelic mutation found in a patient with hemophagocytic syndrome and Langerhans cell histiocytosis / Viñas Gimenez, Laura (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Rincón, Rafael (Hospital Universitari Vall d'Hebron) ; Colobrán Oriol, Roger (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Celis, Verónica Paola (Hospital Sant Joan de Déu (Barcelona, Catalunya). Servei d'Hematologiai Oncologia Pediàtrica) ; Dapena, José Luis (Hospital Sant Joan de Déu (Barcelona, Catalunya). Servei d'Hematologiai Oncologia Pediàtrica) ; Alsina Manrique, Laia (Hospital Sant Joan de Déu (Barcelona, Catalunya). Servei d'Al·lèrgia i Immunologia Clínica) ; Sayós, Joan (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Gallo, Mónica (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory disorder. HLH can be considered as a threshold disease depending on the trigger and the residual NK-cell cytotoxicity. [...]
2021 - 10.3389/fimmu.2021.723836
Frontiers in immunology, Vol. 12 (September 2021) , art. 723836  
3.
13 p, 794.1 KB New genes involved in Angelman syndrome-like : Expanding the genetic spectrum / Aguilera, Cinthia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ramírez Mallafré, Ariadna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Brun-Gasca, Carme (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Dominguez-Carral, Jana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Delgadillo, Veronica (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Laurie, Steve (Centre de Regulació Genòmica) ; Derdak, Sophia (Centre de Regulació Genòmica) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron) ; de la Cruz, Xavier (Hospital Universitari Vall d'Hebron) ; Capdevila, Núria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Spataro, Nino (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. [...]
2021 - 10.1371/journal.pone.0258766
PloS one, Vol. 16 (october 2021)  
4.
20 p, 7.5 MB Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2 : In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants / Özkan, Selen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Universitat Autònoma de Barcelona
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense variants constitute an important problem with negative consequences for the diagnosis of hereditary breast and ovarian cancer. [...]
2021 - 10.3390/ijms22126226
International journal of molecular sciences, Vol. 22 (june 2021)  
5.
6 p, 916.0 KB Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma / De Mattos-Arruda, Leticia (Universitat Autònoma de Barcelona) ; Mayor, Regina (Vall d'Hebron Institut d'Oncologia) ; Ng, Charlotte K. Y. (Memorial Sloan Kettering Cancer Center) ; Weigelt, Britta (Memorial Sloan Kettering Cancer Center) ; Martinez-Ricarte, Fran (Universitat Autònoma de Barcelona) ; Torrejon, Davis (Vall d'Hebron Institut d'Oncologia) ; Oliveira, Mafalda (Vall d'Hebron Institut d'Oncologia) ; Arias, Alexandra (Vall d'Hebron Institut d'Oncologia) ; Raventós, Carolina (Vall d'Hebron Institut d'Oncologia) ; Tang, Jiabin (Memorial Sloan Kettering Cancer Center) ; Guerini-Rocco, Elena (Memorial Sloan Kettering Cancer Center) ; Martinez-Saez, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lois, Sergio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Marín, Oscar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Piscuoglio, Salvatore (Memorial Sloan Kettering Cancer Center) ; Towers, Russel (Department of Surgery, Memorial Sloan Kettering Cancer Center) ; Vivancos, Ana (Vall d'Hebron Institut d'Oncologia) ; Peg, Vicente (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ramón y Cajal, Santiago (Universitat Autònoma de Barcelona) ; Carles, Joan (Vall d'Hebron Institut d'Oncologia) ; Rodon, Jordi (Vall d'Hebron Institut d'Oncologia) ; González-Cao, María (Quirón Dexeus University Hospital) ; Tabernero, Josep (Universitat Autònoma de Barcelona) ; Felip, Enriqueta (Universitat Autònoma de Barcelona) ; Sahuquillo Barris, Juan (Universitat Autònoma de Barcelona) ; Berger, Michael F. (Memorial Sloan Kettering Cancer Center) ; Cortés, Javier (Universitat Autònoma de Barcelona) ; Reis-Filho, Jorge S. (Memorial Sloan Kettering Cancer Center) ; Seoane Suárez, Joan (Universitat Autònoma de Barcelona)
Cell-free circulating tumour DNA (ctDNA) in plasma has been shown to be informative of the genomic alterations present in tumours and has been used to monitor tumour progression and response to treatments. [...]
2015 - 10.1038/ncomms9839
Nature communications, Vol. 6 (november 2015)  
6.
14 p, 1.3 MB Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence / de la Campa, Elena Álvarez (Institut de Biologia Molecular de Barcelona) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Universitat Autònoma de Barcelona
Strict guidelines delimit the use of computational information in the clinical setting, due to the still moderate accuracy of in silico tools. These guidelines indicate that several tools should always be used and that full coincidence between them is required if we want to consider their results as supporting evidence in medical decision processes. [...]
2017 - 10.1186/s12864-017-3914-0
BMC genomics, Vol. 18 (august 2017)  
7.
11 p, 709.0 KB Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients / Bryant, Laura (Children's Hospital of Philadelphia (Pennsilvània)) ; Li, Dong (Children's Hospital of Philadelphia (Pennsilvània)) ; Cox, Samuel G. (University of Southern California, CA 90033, USA) ; Marchione, Dylan (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Joiner, Evan F. (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ; Wilson, Khadija (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Janssen, Kevin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Lee, Pearl (Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; March, Michael E. (Children's Hospital of Philadelphia (Pennsilvània)) ; Nair, Divya (Children's Hospital of Philadelphia (Pennsilvània)) ; Sherr, Elliott (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ; Fregeau, Brieana (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ; Wierenga, Klaas J. (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ; Wadley, Alexandrea (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ; Mancini, Grazia M. S. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ; Powell-Hamilton, Nina (Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA) ; van de Kamp, Jiddeke (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ; Grebe, Theresa (Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA) ; Dean, John (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ; Ross, Alison (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ; Crawford, Heather P. (Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA) ; Powis, Zoe (Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Willing, Marcia C. (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ; Manwaring, Linda (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ; Schot, Rachel (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ; Nava, Caroline (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ; Afenjar, Alexandra (Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France) ; Lessel, Davor (Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany) ; Wagner, Matias (Institut für Humangenetik, Technische Universität München, Munich, Germany) ; Klopstock, Thomas (Munich Cluster for Systems Neurology, SyNergy, Munich, Germany) ; Winkelmann, Juliane (Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany) ; Catarino, Claudia B. (Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany) ; Retterer, Kyle (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Schuette, Jane L. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ; Innis, Jeffrey W. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ; Pizzino, Amy (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Lüttgen, Sabine (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ; Denecke, Jonas (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ; Strom, Tim M. (Institut für Humangenetik, Technische Universität München, Munich, Germany) ; Monaghan, Kristin G. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Yuan, Zuo-Fei (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Dubbs, Holly (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Bend, Renee (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Lee, Jennifer A. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Lyons, Michael J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ; Günthner, Roman (Technische Universität München. Institut für Humangenetik) ; Reutter, Heiko (Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany) ; Keren, Boris (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ; Radtke, Kelly (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Sherbini, Omar (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Mrokse, Cameron (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Helbig, Katherine L. (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ; Odent, Sylvie (CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France) ; Cogne, Benjamin (Université de Nantes) ; Mercier, Sandra (Université de Nantes) ; Bezieau, Stephane (Université de Nantes) ; Besnard, Thomas (Université de Nantes) ; Kury, Sebastien (Université de Nantes) ; Redon, Richard (Université de Nantes) ; Reinson, Karit (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ; Wojcik, Monica H. (Broad Institute, Cambridge, MA 02142, USA) ; Õunap, Katrin (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ; Ilves, Pilvi (Tartu University Hospital (Tartu, Estònia)) ; Innes, A. Micheil (Alberta Children's Hospital Research Institute) ; Kernohan, Kristin D. (Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada) ; Costain, Gregory (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ; Meyn, M. Stephen (The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA) ; Chitayat, David (The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada) ; Zackai, Elaine (Children's Hospital of Philadelphia (Pennsilvània)) ; Lehman, Anna (Department of Medical Genetics, University of British Columbia, Vancouver, Canada) ; Kitson, Hilary (Department of Pediatrics, University of British Columbia, Vancouver, Canada) ; Martin, Martin G. (Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Martinez-Agosto, Julian A. (Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Nelson, Stan F. (Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Palmer, Christina G. S. (Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Papp, Jeanette C. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Parker, Neil H. (David Geffen School of Medicine, Los Angeles, CA 90095, USA) ; Sinsheimer, Janet S. (Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Vilain, Eric (Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA) ; Wan, Jijun (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Yoon, Amanda J. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Zheng, Allison (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ; Brimble, Elise (Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA) ; Ferrero, Giovanni Battista (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ; Radio, Francesca Clementina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ; Carli, Diana (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ; Barresi, Sabina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ; Brusco, Alfredo (Department of Medical Sciences, University of Torino, Turin, Italy) ; Tartaglia, Marco (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ; Thomas, Jennifer Muncy (Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Umana, Luis (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Weiss, Marjan M. (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ; Gotway, Garrett (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Stuurman, K. E. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ; Thompson, Michelle L. (HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA) ; McWalter, Kirsty (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ; Stumpel, Constance T. R. M. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ; Stevens, Servi J. C. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ; Stegmann, Alexander P. A. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ; Tveten, Kristian (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ; Vøllo, Arve (Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway) ; Prescott, Trine (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ; Fagerberg, Christina (Odense University Hospital (Dinamarca)) ; Laulund, Lone Walentin (Odense University Hospital (Dinamarca)) ; Larsen, Martin J. (Odense University Hospital (Dinamarca)) ; Byler, Melissa (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ; Lebel, Robert Roger (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ; Hurst, Anna C. (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ; Dean, Joy (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ; Schrier Vergano, Samantha A. (Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA) ; Norman, Jennifer (INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA) ; Mercimek-Andrews, Saadet (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ; Neira, Juanita (Department of Human Genetics, Emory University, Atlanta, GA 30322, USA) ; Van Allen, Margot I. (Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada) ; Longo, Nicola (Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA) ; Sellars, Elizabeth (University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA) ; Louie, Raymond J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Cathey, Sara S. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ; Brokamp, Elly (Vanderbilt University, Nashville, TN 37203, USA) ; Heron, Delphine (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ; Snyder, Molly (Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA) ; Vanderver, Adeline (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ; Simon, Celeste (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Crump, J. Gage (Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA) ; Chung, Wendy (Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA) ; Garcia, Benjamin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ; Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ; Bhoj, Elizabeth J. (Children's Hospital of Philadelphia (Pennsilvània)) ; Universitat Autònoma de Barcelona
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3. 3 (H3. 3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. [...]
2020 - 10.1126/sciadv.abc9207
Science advances, Vol. 6 (december 2020)  
8.
12 p, 2.0 MB Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants / Brasil, Sandra (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Leal, Fátima (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Navarrete, Rosa (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Ecay, María Jesús (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Desviat, Lourdes R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Riera, Casandra (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Couce, Maria Luz (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Martin-Hernández, Elena (Hospital Universitario 12 de Octubre (Madrid)) ; Morais, Ana (Hospital Universitario La Paz (Madrid)) ; Pedrón, Consuelo (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Peña-Quintana, Luis (Universidad de Las Palmas de Gran Canaria) ; Rigoldi, Miriam (Center for Rare Disorders, ASST- Monza, Ospedale San Gerardo) ; Specola, Norma (Unidad de Metabolismo Hospital de Niños de La Plata (La Plata, Argentina)) ; de Almeida, Isabel Tavares (Metabolic Diseases Unit (Lisboa, Portugal)) ; Vives, Inmaculada (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Yahyaoui, Raquel (Instituto de Investigación Biomédica de Málaga) ; Rodríguez-Pombo, Pilar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Ugarte, Magdalena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Merinero, Begoña (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. [...]
2018 - 10.1186/s13023-018-0862-y
Orphanet Journal of Rare Diseases, Vol. 13 (july 2018)  
9.
1.4 MB FHLdb : A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis / Viñas-Giménez, Laura (Jeffrey Model Foundation Excellence Center) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Batlle-Masó, Laura (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Casals, Ferran (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Rivière, Jacques G.. (Jeffrey Model Foundation Excellence Center) ; Martínez Gallo, Mónica (Jeffrey Model Foundation Excellence Center) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples from these patients. [...]
2020 - 10.3389/fimmu.2020.00107
Frontiers in immunology, Vol. 11 (january 2020)  
10.
15 p, 1.7 MB Structural and computational characterization of disease-related mutations involved in protein-protein interfaces / Navío, D. (Barcelona Supercomputing Center) ; Rosell, M. (Barcelona Supercomputing Center) ; Aguirre, Josu (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Fernández-Recio, Juan (Universidad de La Rioja. Instituto de Ciencias de la Vid y del Vino)
One of the known potential effects of disease-causing amino acid substitutions in proteins is to modulate protein-protein interactions (PPIs). To interpret such variants at the molecular level and to obtain useful information for prediction purposes, it is important to determine whether they are located at protein-protein interfaces, which are composed of two main regions, core and rim, with different evolutionary conservation and physicochemical properties. [...]
2019 - 10.3390/ijms20071583
International journal of molecular sciences, Vol. 20 Núm. 7 (january 2019) , p. 1583  

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Research literature 1 records found  
1.
202 p, 2.5 MB Novel approaches in the identification of pathogenic variants in the clinical diagnosis / Riera Ribas, Casandra ; de la Cruz, Xavier, dir. ; Querol Murillo, Enrique, dir. ; Universitat Autònoma de Barcelona. Departament d'Enginyeria Química, Biològica i Ambiental
El rápido crecimiento experimentado por las técnicas de secuenciación de última generación ha impulsado a su vez el desarrollo de aplicaciones bioinformáticas destinadas a la anotación funcional e interpretación de las variantes identificadas. [...]
The rapid growth experienced by next-generation sequencing techniques has fuelled the development of bioinformatic applications for the functional annotation and interpretation of the variants identified. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2016  

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