المؤلفون: Xihan Liu, Jiaojiao Zhang, Zixiang Wang, Mingyao Yan, Meining Xu, Gaoyuan Li, Victoria Shender, Jian‐jun Wei, Jianqiao Li, Changshun Shao, Shiqian Zhang, Beihua Kong, Kun Song, Zhaojian Liu

المصدر: Advanced Science, Vol 11, Iss 15, Pp n/a-n/a (2024)

مصطلحات موضوعية: alternative splicing, BAX, PQBP1, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2198-3844

URL الوصول: https://doaj.org/article/0c507399bbea45589c702d23e86b6f3c

المؤلفون: Lukas Wiench, Domenico Rizzo, Zora Sinay, Zsófia Nacsa, Nina V. Fuchs, Renate König

المصدر: Viruses, Vol 16, Iss 8, p 1340 (2024)

مصطلحات موضوعية: PQBP1, innate immunity, neurodegeneration, Renpenning syndrome spectrum, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1999-4915/16/8/1340; https://doaj.org/toc/1999-4915

URL الوصول: https://doaj.org/article/1ae9d9e22ea94f8f912a6066b2ff12a5

المؤلفون: Hikari Tanaka, Hitoshi Okazawa

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 6227

مصطلحات موضوعية: PQBP1, intellectual disability, neurodegenerative diseases, innate immunity, intrinsically disordered protein

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23116227

الاتاحة: https://doi.org/10.3390/ijms23116227

المؤلفون: Liu, Wenhua, Xie, Hao, Liu, Xian, Xu, Shoujing, Cheng, Shanshan, Wang, Zheng, Xie, Ting, Zhang, Zi Chao, Han, Junhai

مصطلحات موضوعية: Alternative splicing, CP: Developmental biology, CP: Neuroscience, Exon inclusion, Intermediate progenitor, Numb, PQBP1, Proliferation and defferentiation, Striatum development

Relation: https://repository.hkust.edu.hk/ir/Record/1783.1-126688; Cell Reports, v. 42, (3), March 2023, article number 112277; https://doi.org/10.1016/j.celrep.2023.112277; http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=2211-1247&rft.volume=42&rft.issue=3&rft.date=2023&rft.spage=&rft.aulast=Liu&rft.aufirst=&rft.atitle=PQBP1+regulates+striatum+development+through+balancing+striatal+progenitor+proliferation+and+differentiation&rft.title=Cell+Reports; http://www.scopus.com/record/display.url?eid=2-s2.0-85150459211&origin=inward; http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=LinksAMR&SrcApp=PARTNER_APP&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000967358300001

الاتاحة: https://repository.hkust.edu.hk/ir/Record/1783.1-126688
https://doi.org/10.1016/j.celrep.2023.112277
http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=2211-1247&rft.volume=42&rft.issue=3&rft.date=2023&rft.spage=&rft.aulast=Liu&rft.aufirst=&rft.atitle=PQBP1+regulates+striatum+development+through+balancing+striatal+progenitor+proliferation+and+differentiation&rft.title=Cell+Reports
http://www.scopus.com/record/display.url?eid=2-s2.0-85150459211&origin=inward
http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=LinksAMR&SrcApp=PARTNER_APP&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000967358300001

المؤلفون: Hitoshi Okazawa, 岡澤 均

المصدر: 認知神経科学 / Japanese Journal of Cognitive Neuroscience. 2019, 21(3+4):155

المؤلفون: Yukihisa Miyachi

المصدر: RADIOISOTOPES. 2019, 68(3):105

المؤلفون: Pucheta-Martinez, E, D'Amelio, N, Lelli, M, Martinez-Torrecuadrada, JL, Sudol, M, Saladino, G, Gervasio, FL

المصدر: Scientific Reports , 6 (30293) (2016)

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, SYNDROME PROTEIN PQBP1, CHEMICAL-SHIFT INDEX, STRUCTURAL-ANALYSIS, RENPENNING SYNDROME, LIGAND RECOGNITION, MENTAL-RETARDATION, MISSENSE MUTATION, BETA-HAIRPIN, BINDING, PROLINE

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1514064/1/srep30293.pdf; https://discovery.ucl.ac.uk/id/eprint/1514064/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1514064/1/srep30293.pdf
https://discovery.ucl.ac.uk/id/eprint/1514064/

المؤلفون: Takahashi K., Yoshina S., Masashi M., Ito W., Inoue T., Shiwaku H., Arai H., Mitani S., Okazawa H.

المساهمون: BIOCHEMISTRY

المصدر: Unpaywall 20191101

مصطلحات موضوعية: binding protein, fatty acid, polyglutamate binding protein, protein PQBP1, short hairpin RNA, triacylglycerol, unclassified drug, Caenorhabditis elegans protein, carrier protein, hybrid protein, nuclear protein, PQBP1 protein, human, adipocyte, article, Caenorhabditis elegans, cell proliferation, controlled study, evolutionary homology, gene expression, gene function, gene repression, in vivo study, intestine cell, larval stage, lipid analysis, lipid metabolism, mutant, nonhuman, protein defect

Relation: Takahashi K., Yoshina S., Masashi M., Ito W., Inoue T., Shiwaku H., Arai H., Mitani S., Okazawa H. (2009). Nematode homologue of PQBP1, a mental retardation causative gene, is involved in lipid metabolism. PLoS ONE 4 (1) : e4104. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0004104; https://scholarbank.nus.edu.sg/handle/10635/161845

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/161845

المؤلفون: Engel, Camille

المساهمون: Bourgogne Franche-Comté, Kuentz, Paul, Piard, Juliette

مصطلحات موضوعية: Trouble du développement intellectuel, Corrélations génotype-Phénotype, BRAT1, CNOT3, PQBP1, Anomalies génétiques en mosaïque, Intellectual disability, Genotype-Phenotype correlation, Mosaic genetic anomalies, 572.8

Relation: http://www.theses.fr/2024UBFCE006

الاتاحة: http://www.theses.fr/2024UBFCE006

المؤلفون: Courraud, Jérémie

المساهمون: STAR, ABES, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg, Amélie Piton

المصدر: Médecine humaine et pathologie. Université de Strasbourg, 2021. Français. ⟨NNT : 2021STRAJ114⟩

مصطلحات موضوعية: Déficience intellectuelle, PQBP1, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Variants of unknown significance, Intellectual disability, DYRK1A, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Variants de signification inconnue

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1398::fe10c1c8f17ba7eb79e06df4207438b1
https://theses.hal.science/tel-03771327

المؤلفون: Courraud, Jérémie

المساهمون: STAR, ABES

مصطلحات موضوعية: Déficience intellectuelle, PQBP1, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Variants of unknown significance, Intellectual disability, DYRK1A, Variants de signification inconnue

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______166::fe10c1c8f17ba7eb79e06df4207438b1
https://theses.hal.science/tel-03771327

المؤلفون: Lisong Li, Haiyue Zhao, Dinghua Jiang, Yong Zhang, Wu Xu, Lixin Huang

المصدر: Journal of Cancer

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, recurrence, medicine.medical_treatment, Disease, Malignancy, Metastasis, 03 medical and health sciences, 0302 clinical medicine, osteosarcoma, PCK2, Internal medicine, Gene expression, medicine, metastasis, Survival rate, Chemotherapy, PQBP1, business.industry, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Osteosarcoma, business, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c934fcf353a2b9cfad8d9d8818d983
https://doi.org/10.7150/jca.28480

المؤلفون: Yoshiki Takamatsu, Ryoko Wada, Makoto Hashimoto, Eliezer Masliah, Masaaki Waragai, Takato Takenouchi, Shuei Sugama, Gilbert Ho

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: p53, 0301 basic medicine, Amyloid, elongated polyQ (epolyQ), amyloidogenic proteins (APs), Context (language use), Bulbo-Spinal Atrophy, X-Linked, Biology, Protein aggregation, Stress, antagonistic pleiotropy, evolvability, Evolution, Molecular, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, Alzheimer Disease, transgenerational transmission, polyQ binding protein 1 (PQBP1), medicine, Humans, Spinocerebellar Ataxias, Amyloid beta-Peptides, Hormesis, Genetic Pleiotropy, Parkinson Disease, Machado-Joseph Disease, Hypothesis, polyglutamine (polyQ), Myoclonic Epilepsies, Progressive, medicine.disease, Evolvability, Huntington Disease, 030104 developmental biology, Pleiotropy (drugs), alpha-Synuclein, Spinocerebellar ataxia, Neurology (clinical), Peptides, Trinucleotide Repeat Expansion, Neuroscience, 030217 neurology & neurosurgery, Huntington’s disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41cb040e65b49ae439564f1ff4ffc940
https://doi.org/10.3233/jhd-180309

المؤلفون: Courraud, Jérémie

المساهمون: Strasbourg, Piton, Amélie

مصطلحات موضوعية: Déficience intellectuelle, Variants de signification inconnue, DYRK1A, PQBP1, Intellectual disability, Variants of unknown significance, 616.858 8, 572.8

Relation: http://www.theses.fr/2021STRAJ114/document

الاتاحة: http://www.theses.fr/2021STRAJ114/document

المؤلفون: Courraud, Jérémie

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg, Amélie Piton

المصدر: https://theses.hal.science/tel-03771327 ; Médecine humaine et pathologie. Université de Strasbourg, 2021. Français. ⟨NNT : 2021STRAJ114⟩.

مصطلحات موضوعية: Intellectual disability, Variants of unknown significance, DYRK1A, PQBP1, Déficience intellectuelle, Variants de signification inconnue, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: NNT: 2021STRAJ114; tel-03771327; https://theses.hal.science/tel-03771327; https://theses.hal.science/tel-03771327/document; https://theses.hal.science/tel-03771327/file/Courraud_Jeremie_2021_ED414.pdf

الاتاحة: https://theses.hal.science/tel-03771327
https://theses.hal.science/tel-03771327/document
https://theses.hal.science/tel-03771327/file/Courraud_Jeremie_2021_ED414.pdf

المؤلفون: Tina O. Sulistio, Charles E. Schwartz, Hans-Hilger Ropers, Suzanna G.M. Frints, Ute Fischer, Francisco Martínez, Vera M. Kalscheuer, Corrado Romano, Stella Amrei Kunde, Luciana Musante, Astrid Grimme

المساهمون: Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction

المصدر: Human Mutation, 31(1), 90-98. Wiley

مصطلحات موضوعية: Gene isoform, RNA Stability, Mutant, Nonsense-mediated decay, Biology, Cell Line, Exon, splicing, Genetics, Humans, NMD, XLMR, Lymphocytes, RNA, Messenger, Gene, Genetics (clinical), Messenger RNA, PQBP1, Reverse Transcriptase Polymerase Chain Reaction, Nuclear Proteins, Exons, Fibroblasts, Molecular biology, Phenotype, DNA-Binding Proteins, PTC, NAS, Codon, Nonsense, Mutation, RNA splicing, Mental Retardation, X-Linked, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35d0d46ce5eaf4b052a65cbe8974a5d0
https://cris.maastrichtuniversity.nl/en/publications/bcb180bc-8c99-447d-bf98-fc2c13872038

المؤلفون: Pucheta Martinez, Encarna, D'Amelio, Nicola, Lelli, Moreno, Martinez Torrecuadrada, Jorge L., Sudol, Marius, Saladino, Giorgio, Gervasio, Francesco Luigi

المساهمون: Engineering and Physical Sciences Research Council (Reino Unido), European Research Council

المصدر: Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports

مصطلحات موضوعية: Protein Folding, Cerebral Palsy, Nuclear Proteins, Molecular Dynamics Simulation, Article, WW Domains, SYNDROME PROTEIN PQBP1, CHEMICAL-SHIFT INDEX, STRUCTURAL-ANALYSIS, RENPENNING SYNDROME, LIGAND RECOGNITION, MISSENSE MUTATION, BETA-HAIRPIN, DNA-Binding Proteins, Intellectual Disability, Mental Retardation, X-Linked, Humans, Point Mutation, Protein Conformation, beta-Strand, RNA Splicing Factors, RNA, Messenger, Carrier Proteins, Nuclear Magnetic Resonance, Biomolecular, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5e0eb703a22aa0eb638c562bda519a9d
http://hdl.handle.net/20.500.12105/8556

المؤلفون: Wang, Qingqing

Thesis Advisors: Silver, Pamela A.

مصطلحات موضوعية: Biology, Neurosciences, Molecular biology, apoptosis, neurological disorders, PQBP1, RNA alternative splicing, RNA-seq analysis, synthetic memory circuit

الاتاحة: http://dissertations.umi.com/gsas.harvard:10849
http://nrs.harvard.edu/urn-3:HUL.InstRepos:11129152

المؤلفون: Tapia, Victor E, Nicolaescu, Emilia, McDonald, Caleb B, Musi, Valeria, Oka, Tsutomu, Inayoshi, Yujin, Satteson, Adam C, Mazack, Virginia, Humbert, Jasper, Gaffney, Christian J, Beullens, Monique, Schwartz, Charles E, Landgraf, Christiane, Volkmer, Rudolf, Pastore, Annalisa, Farooq, Amjad, Bollen, Mathieu, Sudol, Marius

مصطلحات موضوعية: polyglutamine tract-binding, linked mental-retardation, carboxyl-terminal domain, yes-associated protein, renpenning syndrome, polymerase-ii, gene pqbp1, transcription, mechanism, ligand

Relation: Journal of biological chemistry vol:285 issue:25 pages:19391-19401; https://lirias.kuleuven.be/handle/123456789/273420

الاتاحة: https://lirias.kuleuven.be/handle/123456789/273420

المؤلفون: Tapia Mancilla, Víctor

المساهمون: victor.tapia@charite.de, m, N. N.

مصطلحات موضوعية: WW domains, proline-rich ligands, synthetic peptides, PQBP1, X-LID, alternative splicing, mechanosensing, co-chaperones, BAG3, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/6871; http://dx.doi.org/10.17169/refubium-11070; urn:nbn:de:kobv:188-fudissthesis000000096736-6

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/6871
https://doi.org/10.17169/refubium-11070
https://nbn-resolving.org/urn:nbn:de:kobv:188-fudissthesis000000096736-6