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1دورية أكاديميةDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
المؤلفون: Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker
المصدر: iScience, Vol 27, Iss 6, Pp 109984- (2024)
مصطلحات موضوعية: neuroscience, genetics, immunology, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004224012069Test; https://doaj.org/toc/2589-0042Test
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2دورية أكاديمية
المؤلفون: Olga Boix, Marion Martinez, Santiago Vidal, Marta Giménez-Alejandre, Lluís Palenzuela, Laura Lorenzo-Sanz, Laura Quevedo, Olivier Moscoso, Jorge Ruiz-Orera, Pilar Ximénez-Embún, Nikaoly Ciriaco, Paolo Nuciforo, Camille Stephan-Otto Attolini, M. Mar Albà, Javier Muñoz, Tian V. Tian, Ignacio Varela, Ana Vivancos, Santiago Ramón y Cajal, Purificación Muñoz, Carmen Rivas, María Abad
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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3دورية أكاديمية
المؤلفون: Ricardo Viais, Marcos Fariña-Mosquera, Marina Villamor-Payà, Sadanori Watanabe, Lluís Palenzuela, Cristina Lacasa, Jens Lüders
المصدر: eLife, Vol 10 (2021)
مصطلحات موضوعية: augmin, spindle, mitosis, neural progenitor, brain development, microtubules, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Cristina Lacasa, Marcos Fariña-Mosquera, Marina Villamor-Payà, Lluís Palenzuela, Sadanori Watanabe, Ricardo Viais, Jens Lüders
المصدر: eLife, Vol 10 (2021)
eLifeمصطلحات موضوعية: Programmed cell death, Mouse, neural progenitor, QH301-705.5, Science, Apoptosis, brain development, Biology, General Biochemistry, Genetics and Molecular Biology, microtubules, Mice, Neural Stem Cells, Microtubule, Conditional gene knockout, Animals, Progenitor cell, Biology (General), Mitosis, mitosis, General Immunology and Microbiology, General Neuroscience, Brain, General Medicine, Cell Biology, spindle, Neural stem cell, Cell biology, Spindle apparatus, Centrosome, augmin, Medicine, Female, Tumor Suppressor Protein p53, Microtubule-Associated Proteins, Research Article, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d14bb6d6a4788ce5205656456fba86fTest
https://elifesciences.org/articles/67989Test -
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المؤلفون: Sadanori Watanabe, Cristina Lacasa, Ricardo Viais, Jens Lüders, Marcos Fariña-Mosquera, Lluís Palenzuela, Marina Villamor-Payà
مصطلحات موضوعية: Brain development, Apoptosis, Biology, Neural stem cell, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::db60fc76bc97c01abf5186500df9f5f9Test
https://doi.org/10.7554/elife.67989.sa2Test -
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المؤلفون: Aida Peña-Blanco, Travis H. Stracker, Lluís Palenzuela, Anja Groth, Brian Raught, Philip A. Knobel, Katrin Rein, Alain de Bruin, Julien Colombelli, Teresa López-Rovira, Sandra Segura-Bayona, Etienne Coyaud, Stephen Forrow, Sameh A. Youssef, Helena González-Burón
المساهمون: Regenerative Medicine, Stem Cells & Cancer
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Segura-Bayona, S, Knobel, P A, Gonzalez-Buron, H, Youssef, S A, Peña-Blanco, A, Coyaud, E, Lopez-Rovira, T, Rein, K, Palenzuela, L, Colombelli, J, Forrow, S, Raught, B, Groth, A, De Bruin, A & Stracker, T H 2017, ' Differential requirements for Tousled-like kinases 1 and 2 in mammalian development ', Cell Death and Differentiation, vol. 24, no. 11, pp. 1872-1885 . https://doi.org/10.1038/cdd.2017.108Test
Cell death and differentiation, 24(11), 1872-1885. Nature Publishing Group
Cell Death and Differentiation, 24(11), 1872. Nature Publishing Group
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: 0301 basic medicine, Genome instability, Chromosomal Proteins, Non-Histone, Placenta, Cell Cycle Proteins, Cromatina, Transcription (biology), Protein kinases, Pregnancy, ENCODES, Phosphorylation, Genetics, Mammals, Genes, Essential, Genetic interaction, Gene Expression Regulation, Developmental, Chromatin, Female, CHECKPOINT, Protein Binding, DNA repair, Cell Survival, CHROMATIN ASSEMBLY FACTORS, Embryonic Development, Chromatin remodelling, Biology, Development, Protein Serine-Threonine Kinases, 03 medical and health sciences, Histone H3, Chromosomal Instability, REVEALS, Animals, Humans, Molecular Biology, Gene, Mitosis, SUPPRESSION, Cell Proliferation, Tissue Survival, Original Paper, PURIFICATION, IDENTIFICATION, DNA replication, Cell Biology, GENE, Proteïnes quinases, Mice, Inbred C57BL, 030104 developmental biology, DNA-DAMAGE, REPLICATION, Protein Kinases, Molecular Chaperones
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c5c8b4c46638967444556b39698d190Test
https://pubmed.ncbi.nlm.nih.gov/28708136Test -
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المؤلفون: Jan Frederik Scheel, Carlos Sánchez-Huertas, Vincenzo Costanzo, Ignasi Roig, Uwe Wolfrum, Travis H. Stracker, Berta Terré, Peter J. McKinnon, Philip A. Knobel, Suvi Aivio, Sarai Pacheco, Marko Marjanović, Lluís Palenzuela, Jens Lüders, Ana Martínez-Marchal, José A. Suja, Rocío Gómez
المساهمون: UAM. Departamento de Biología
المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Nature communications
NATURE COMMUNICATIONSمصطلحات موضوعية: Male, Programmed cell death, Microcephaly, General Physics and Astronomy, Cell Cycle Proteins, Dwarfism, Biology, Real-Time Polymerase Chain Reaction, Article, General Biochemistry, Genetics and Molecular Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Chromosome structure, Spermatocytes, medicine, Animals, centriole, Homologous Recombination, 030304 developmental biology, Recombination, Genetic, fertility, Genetics, Centrosome, Meiotic recombination, 0303 health sciences, Multidisciplinary, Sperm Count, Protein cep63, Facies, General Chemistry, medicine.disease, Biología y Biomedicina / Biología, Immunohistochemistry, Neural stem cell, 3. Good health, CEP63, Meiosis, Seckel syndrome, Tumor Suppressor Protein p53, Homologous recombination, microcephaly, DNA damage, centrosome, meiosis, 030217 neurology & neurosurgery, DNA Damage
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d2285b481f4110837cfdf04cc4d08b6Test
http://hdl.handle.net/10486/675309Test -
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المؤلفون: Darius Kubulus, Hirofumi Makino, Martine Leblanc, Orencio Bosch, Ryozo Nagai, Ramazan Ulu, Fredric L. Coe, Haruki Okamura, Y. Tsukamoto, Carlos Caramelo, Richard J. Johnson, Benjamin Polo, O. Sakai, Minoru Kuriki, Duk-Hee Kang, Joan H. Parks, Gaetano Leto, Bryan L. Wharram, Marcelo S. Silva, Yeong Hoon Kim, Jocelyn Wiggins, F. De Cesaris, Tadao Akizawa, Yuka Otsuka, T. Akizawa, Nobutoshi Iida, Alper Sevinc, Y. Ohashi, Fumiaki Marumo, Anna Favre, Tatsuki Sugiura, Ramon Vilalta, Kazushi Nakao, H. Morii, Akira Kawashima, Yasushi Yamasaki, Fahri Ari, Masahiko Kurabayashi, Atsuko Kamijo, Akio Imada, Kenichiro Asano, Andreas C.C. Wagner, Metin Sarikaya, Louise Fortier, Carlo Pesce, Horacio Ajzen, Lluís M. Callís, A. Becucci, Ángel Vila, Marc Dorval, Yoshihiro Motomiya, Charles Chazot, S. Koshikawa, Taro Sugimoto, Teruto Hashiguchi, M. Arakawa, Shigeru Sugimoto, Giuseppe Pugliese, Thierry Vanel, Aparecido B. Pereira, Ji Hoon Kim, Kosaku Nitta, Juan F. Navarro, Claudio A. Redaelli, Takashi Akiba, Hitoshi Sugiyama, Masao Omata, Isabelle Létourneau, K. Kurokawa, José Urbano, Flavia Pricci, Kazuhisa Miyashita, Tetsuo Hayashi, Kazuo Watanabe, Eiichi Makino, J. Nieto, Naoki Kimata, Akihiro Tojo, F. Marumo, P.T. Scarpelli, Naoe Suzuki, Y. Seino, Shigeru Nakai, Naoko Miwa, Nasimul Ahsan, Yücel Güngen, Norio Ogawa, Hironori Matsuura, Atsuo Goto, Ying-Hua Tien, M. Suzuki, Fumiko Hosono, Toru Shinzato, Soon Bae Kim, Guillaume Jean, Jung Sik Park, Takashi Yokoyama, Lluís Palenzuela, Roland C. Blantz, Christian Hugo, Masamiki Miwa, Yoshindo Kawaguchi, Takashi Taguchi, Martin K. Schilling, Masakazu Miura, Hisahiko Iwamoto, Sonia K. Nishida, Shigeru Akagi, Hiroshi Nihei, Robert Bélanger, Chikao Yamazaki, Fehmi Ates, Kazuya Futatsuyama, Mohammed S. Razzaque, Su-Kil Park, Haruo Ichikawa, Kenjiro Kimura, Luiz Antonio Ribeiro de Moura, Yoshio Nakamura, Won Seok Yang, Yumi Ushida, Luca Mazzucchelli, Yoshio Nagake, Shozo Koshikawa, Gianna Mastroianni Kirsztajn, Martin Légaré, Yoshiharu Tubakihara, Tsuyoshi Watanabe, Masaaki Eiro, Meera Goyal, Carmen Mora, Kenji Kawabata, Yoshiyuki Hiki, Naobumi Mise, Eiichi Nishida, Umberto DiMario, Jun Wada, Beyhan Demirhan, David Kershaw, Kenji Maeda, Anna Meseguer, T. Akiba, B. Handan Ozdemir, Toshihiro Okuda, Karen A. Munger, Akiko Ohmoto, Candelaria León, Sang Koo Lee, Stefano Menini, E. Ogata, Tetsuo Katoh, Roger C. Wiggins, Masashi Suzuki, Bernard Charra, Tomonori Uchimura, Yoshinori Uji, Ikuro Maruyama, Ikuko Tomimatsu, Shigeyoshi Ohba, Tsutomu Ishizuka
المصدر: Nephron. 90:514-516
مصطلحات موضوعية: Index (economics), business.industry, Statistics, Medicine, Subject (documents), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::46cf5dce8fd6aa93309a7d00e529d779Test
https://doi.org/10.1159/000054748Test -
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المؤلفون: Ramon Vilalta, Anna Meseguer, Lluís Palenzuela, Ángel Vila, Lluís M. Callís, J. Nieto
المصدر: Nephron. 90(4)
مصطلحات موضوعية: Adult, Collagen Type IV, Male, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Adolescent, Genetic Linkage, DNA Mutational Analysis, Nephritis, Hereditary, Biology, urologic and male genital diseases, medicine.disease_cause, Exon, Genetic linkage, otorhinolaryngologic diseases, medicine, Humans, Point Mutation, Alport syndrome, skin and connective tissue diseases, Child, Gene, X chromosome, Aged, Genetics, Aged, 80 and over, Mutation, Point mutation, Glomerulonephritis, Exons, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, Pedigree, Phenotype, Spain, Child, Preschool, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df6fe44730ccfbf7278606e029419f1bTest
https://pubmed.ncbi.nlm.nih.gov/11961405Test