The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Autor: Vidal, S., Brandi, N., Pacheco, P., Gerotina, E., Blasco, L., Trotta, J.-R., Derdak, S., Del Mar O'Callaghan, M., Garcia-Cazorla, À., Pineda, M., Armstrong, J., Aguirre, F.J., Aleu, M., Alonso, X., Alsius, M., Inmaculada Amorós, M., Antiñolo, G., Aquino, L., Arellano, C., Arriola, G., Arteaga, R., Baena, N., Barcos, M., Belzunces, N., Boronat, S., Camacho, T., Campistol, J., Del Campo, M., Campo, A., Cancho, R., Candau, R., Canós, I., Carrascosa, M.D.C., Carratalá-Marco, F., Casano, J., Castro, P., Cobo, A., Colomer, J., Conejo, D., Corrales, M.J., Cortés, R., Cruz, G., Csányi, G., De Santos, M.T., De Toledo, M., Toro, M.D., Domingo, R., Duat, A., Duque, R., Esparza, A.M., Fernández, R., Fons, M.C., Fontalba, A., Galán, E., Gallano, P., Gamundi, M.J., García, P.L., García, M.D.M., García-Barcina, M., Garcia-Catalan, M.J., García-Miñaur, S., Garcia-Peñas, J.J., García-Silva, M.T., Gassio, R., Geán, E., Gil, B., Gökben, S., Gonzalez, L., Gonzalez, V., Gonzalez, J., González, G., Guillén, E., Guitart, M., Guitet, M., Gutierrez, J.M., Gutiérrez, E., Herranz, J.L., Iglesias, G., Karacic, I., Lahoz, C.H., Lao, J.I., Lapunzina, P., Lautre-Ecenarro, M.J., Lluch, M.D., López, L., López-Ariztegui, A., Macaya, A., Marín, R., Marquez, C.M.L., Martín, E., Martínez, B., Martínez-Salcedo, E., Mas, M.J., Mateo, G., Mendez, P., Jimenez, A.M., Moreno, S., Mulas, F., Narbona, J., Nascimento, A., Nieto, M., Nunes, T.F., Núñez, N., Obón, M., Onsurbe, I., Ortez, C.I., Orts, E., Martinez, F., Parrilla, R., Pascual, S.I., Patiño, A., Pérez-Poyato, M., Pérez-Dueñas, B., Póo, P., Puche, E., Ramos, F., Raspall, M., Roche, A., Roldan, S., Rosell, J., Ruiz, C., Ruiz-Falcó, M.L., Russi, M.E., Samarra, J., Antonio, V.S., Sanchez, I., Sanmartin, X., Sans, A., Santacana, A., Scholl-Bürgi, S., Serrano, N., Serrano, M., Martin-Tamayo, P., Tendero, A., Torrents, J., Tortosa, D., Triviño, E., Troncoso, L., Turrón, E., Vázquez, P., Vázquez, C., Velázquez, R., Ventura, C., Verdú, A., Vernet, A., Vila, M.T., Villar, C.

Publikováno v: Zaguán. Repositorio Digital de la Universidad de Zaragoza
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Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::823e40013b7a39aa038e93f34fc8434d
http://zaguan.unizar.es/record/63161

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Autor: Vidal S; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Brandi N; Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain., Pacheco P; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Gerotina E; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Blasco L; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain., Trotta JR; Centro Nacional de Análisis Genómica (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Derdak S; Centro Nacional de Análisis Genómica (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Del Mar O'Callaghan M; Neurology Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca, Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain., Garcia-Cazorla À; Neurology Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca, Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain., Pineda M; Institut de Recerca, Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain., Armstrong J; Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, Barcelona, Spain. jarmstrong@sjdhospitalbarcelona.org.; Institut de Recerca, Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain. jarmstrong@sjdhospitalbarcelona.org.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III, Madrid, Spain. jarmstrong@sjdhospitalbarcelona.org.

Publikováno v: Scientific reports [Sci Rep] 2021 Sep 07; Vol. 11 (1), pp. 18146. Date of Electronic Publication: 2021 Sep 07.

Selective elimination of mitochondrial mutations in the germline by genome editing.

Autor: Reddy P; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Ocampo A; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Suzuki K; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Luo J; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Bacman SR; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Williams SL; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Sugawara A; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Okamura D; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Tsunekawa Y; Laboratory for Cell Asymmetry, RIKEN Center for Developmental Biology, Kobe, Hyogo 650-0047, Japan., Wu J; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Lam D; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Xiong X; Department of Chemical and Biomolecular Engineering, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA., Montserrat N; Pluripotent Stem Cells and Organ Regeneration, Institute for Bioengineering of Catalonia (IBEC), Barcelona 08028, Spain., Esteban CR; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Liu GH; National Laboratory of Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China; Center for Molecular and Translational Medicine (CMTM), Beijing 100101, China; Beijing Institute for Brain Disorders, Beijing100069, China., Sancho-Martinez I; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Manau D; Institut Clínic of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic, University of Barcelona, Barcelona 08036, Spain., Civico S; Institut Clínic of Gynecology, Obstetrics and Neonatology (ICGON), Hospital Clinic, University of Barcelona, Barcelona 08036, Spain., Cardellach F; Mitochondrial Research Laboratory, IDIBAPS/CIBER on Rare Diseases, University of Barcelona and Internal Medicine Department, Hospital Clínic, University of Barcelona, Barcelona 08036, Spain., Del Mar O'Callaghan M; Neuropediatric Department/CIBERER, Hospital Universitari Sant Joan de Déu, Esplugues de Llobregat 08950, Spain., Campistol J; Neuropediatric Department/CIBERER, Hospital Universitari Sant Joan de Déu, Esplugues de Llobregat 08950, Spain., Zhao H; Department of Chemical and Biomolecular Engineering, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA., Campistol JM; Renal Division, Hospital Clinic, University of Barcelona, IDIBAPS, Barcelona 08036, Spain., Moraes CT; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA; Department of Cell Biology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Izpisua Belmonte JC; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Electronic address: belmonte@salk.edu.

Publikováno v: Cell [Cell] 2015 Apr 23; Vol. 161 (3), pp. 459-469.

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

Autor: Frankel, Eric¹ (AUTHOR) ericsf@stanford.edu, Podder, Avijit² (AUTHOR) apodder@tgen.org, Sharifi, Megan¹ (AUTHOR) msharifi@tgen.org, Pillai, Roshan¹ (AUTHOR) rpillai@tgen.org, Belnap, Newell^1,3 (AUTHOR) kramsey@tgen.org, Ramsey, Keri³ (AUTHOR) msanchez-castillo@tgen.org, Dodson, Julius¹ (AUTHOR) jdudson@tgen.org, Venugopal, Pooja¹ (AUTHOR) pvenugopla@tgen.org, Brzezinski, Molly¹ (AUTHOR) mbrzezinski@tgen.org, Llaci, Lorida^1,2 (AUTHOR) lllaci@tgen.org, Gerald, Brittany¹ (AUTHOR) bgerald@tgen.org, Mills, Gabrielle¹ (AUTHOR) gmills@tgen.org, Sanchez-Castillo, Meredith³ (AUTHOR), Balak, Chris D.¹ (AUTHOR) cbalak@tgen.org, Szelinger, Szabolcs¹ (AUTHOR) sszelinger@exactsciences.com, Jepsen, Wayne M.¹ (AUTHOR) wjepsen@tgen.org, Siniard, Ashley L.¹ (AUTHOR) asiniard@illumina.com, Richholt, Ryan¹ (AUTHOR) rrichholt@tgen.org, Naymik, Marcus¹ (AUTHOR) mnaymik@tgen.org, Schrauwen, Isabelle⁴ (AUTHOR) isabelle.schrauwen@gmail.com

Publikováno v: Cells (2073-4409). May2023, Vol. 12 Issue 10, p1437. 16p.

Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain.

Autor: Yoshimura, Yuri¹ (AUTHOR), Morii, Atsushi¹ (AUTHOR), Fujino, Yuuki² (AUTHOR), Nagase, Marina² (AUTHOR), Kitano, Arisa² (AUTHOR), Ueno, Shiho² (AUTHOR), Takeuchi, Kyoka² (AUTHOR), Yamashita, Riko² (AUTHOR), Inazu, Tetsuya^1,2 (AUTHOR) tinazu@fc.ritsumei.ac.jp

Publikováno v: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 20, p12281-N.PAG. 12p.