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1Academic JournalFunctional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy
المؤلفون: Ling Tong, Xinxin Wang, Huiqin Wang, Rong Yang, Xiaoyan Li, Xiaoguang Yin
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: PPP1R12A, Neonatal seizures, Truncated protein, PP1C, Western blotting, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2Academic Journal
المؤلفون: Yanxia Diao, Weiwei Sun, Zhen Zhang, Bing Zhao, Xin Chen
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
مصطلحات موضوعية: genitourinary and/or/brain malformation syndrome, GUBS, minigene, MYPT1, PPP1R12A, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3Academic Journal
المؤلفون: Hughes, Joel, Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise, Grange, Dorothy, Berger, Seth, Payne, Katelyn, Masser-Frye, Diane, Hu, Tommy, Christie, Michelle, Clegg, Nancy, Everson, Joshua, Martinez, Ariel, Walsh, Laurence, Bedoukian, Emma, Jones, Marilyn, Harris, Catharine, Riedhammer, Korbinian, Choukair, Daniela, Fechner, Patricia, Rutter, Meilan, Hufnagel, Sophia, Roifman, Maian, Kletter, Gad, Delot, Emmanuele, Vilain, Eric, Lipinski, Robert, Vezina, Chad, Muenke, Maximilian, Chitayat, David
المصدر: American Journal of Human Genetics. 106(1)
مصطلحات موضوعية: MYPT1, PPP1R12A, disorders of sex development, embryogenesis, encephalocele, facial dysmorphism, forebrain, holoprosencephaly, hypospadias, omphalocele, Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Disorders of Sex Development, Female, Gestational Age, Holoprosencephaly, Humans, Male, Mutation, Myosin-Light-Chain Phosphatase, Phenotype, Pregnancy, Urogenital Abnormalities
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0vd729sr
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4Academic Journal
المؤلفون: Munoz-Galvan, Sandra, Felipe-Abrio, Blanca, Verdugo-Sivianes, Eva-Maria, Perez, Marco, Jimenez-Garcia, Manuel Pedro, Suarez-Martinez, Elisa, Estevez-Garcia, Purificacion, Carnero, Amancio
المصدر: Molecular Cancer, 19, (2023-12-19)
مصطلحات موضوعية: Ovarian, Cancer, MYPT1, PPP1R12A, miR-30b, Therapy Resistance, Hippo Pathway, Stemness
Relation: oai:zenodo.org:10406825
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5Academic Journal
المؤلفون: Ai Kono, Kaori Shinya, Tomohiro Nakayama, Elisa Shikata, Tatsuo Yamamoto, Kei Kawana
المصدر: Hypertension in Pregnancy, Vol 40, Iss 1, Pp 88-96 (2021)
مصطلحات موضوعية: hypertensive disorders of pregnancy, case-control study, polymorphisms, ppp1r12a, haplotype, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
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6Academic Journal
المؤلفون: Saldanha, Paulo André, Bolanle, Israel Olapeju, Palmer, Timothy Martin, Nikitenko, Leonid Leonidovich, Rivero, Francisco
مصطلحات موضوعية: MYPT1, PPP1R12A, Alternative splicing, Promoter, Terminator, HUVEC, HSVSMC, Platelet
Relation: https://hull-repository.worktribe.com/output/4040853; Cells; Volume 11; Issue 15; https://hull-repository.worktribe.com/file/4040853/1/Published%20article
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7
مصطلحات موضوعية: haplotype, 一塩基バリアント, 関連解析, PPP1R12A遺伝子, 妊娠高血圧症候群, PPP1R12A gene, Hypretensive disorders of pregnancy, single nucleotide variant, association study, ハプロタイプ, Thesis or Dissertation
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Benvenuto G, Todeschini P, Paracchini L, Calura E, Fruscio R, Romani C, Beltrame L, Martini P, Ravaggi A, Ceppi L, Sales G, Donati F, Perego P, Zanotti L, Ballabio S, Grassi T, Delle Marchette M, Tognon G, Sartori E, Adorni M, Odicino F, D'Incalci M, Bignotti E, Romualdi C, Marchini S.
المساهمون: Benvenuto, G, Todeschini, P, Paracchini, L, Calura, E, Fruscio, R, Romani, C, Beltrame, L, Martini, P, Ravaggi, A, Ceppi, L, Sales, G, Donati, F, Perego, P, Zanotti, L, Ballabio, S, Grassi, T, Delle Marchette, M, Tognon, G, Sartori, E, Adorni, M, Odicino, F, D'Incalci, M, Bignotti, E, Romualdi, C, Marchini, S.
مصطلحات موضوعية: high-grade serous epithelial ovarian cancer, integrative pathway analyse, PPP1R12A, PRKG1, prognostic signature, SDF2L1
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/32096871; info:eu-repo/semantics/altIdentifier/wos/WOS:000534818500028; volume:147; issue:2; firstpage:565; lastpage:574; journal:INTERNATIONAL JOURNAL OF CANCER; http://hdl.handle.net/11577/3340535; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081725228
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9Academic Journal
المؤلفون: Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David
المساهمون: Pediatrics, School of Medicine
المصدر: PMC
مصطلحات موضوعية: PPP1R12A, MYPT1, holoprosencephaly, embryogenesis, disorders of sex development, forebrain, hypospadias, facial dysmorphism, encephalocele, omphalocele
وصف الملف: application/pdf
Relation: The American Journal of Human Genetics; Hughes, J. J., Alkhunaizi, E., Kruszka, P., Pyle, L. C., Grange, D. K., Berger, S. I., Payne, K. K., Masser-Frye, D., Hu, T., Christie, M. R., Clegg, N. J., Everson, J. L., Martinez, A. F., Walsh, L. E., Bedoukian, E., Jones, M. C., Harris, C. J., Riedhammer, K. M., Choukair, D., … Chitayat, D. (2020). Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. The American Journal of Human Genetics, 106(1), 121–128. https://doi.org/10.1016/j.ajhg.2019.12.004; https://hdl.handle.net/1805/24376
الاتاحة: https://hdl.handle.net/1805/24376
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10
المؤلفون: Tommaso Grassi, Maurizio D'Incalci, Chiara Romani, Federica Donati, Lorenzo Ceppi, Sara Ballabio, Marco Adorni, Martina Delle Marchette, Eliana Bignotti, Giuseppe Benvenuto, Antonella Ravaggi, Patrizia Perego, Paolo Martini, Sergio Marchini, Laura Zanotti, Lara Paracchini, Enrico Sartori, Franco Odicino, Robert Fruscio, Germana Tognon, Paola Todeschini, Chiara Romualdi, Gabriele Sales, Luca Beltrame, Enrica Calura
المساهمون: Benvenuto, G, Todeschini, P, Paracchini, L, Calura, E, Fruscio, R, Romani, C, Beltrame, L, Martini, P, Ravaggi, A, Ceppi, L, Sales, G, Donati, F, Perego, P, Zanotti, L, Ballabio, S, Grassi, T, Marchette, M, Tognon, G, Sartori, E, Adorni, M, Odicino, F, D'Incalci, M, Bignotti, E, Romualdi, C, Marchini, S
مصطلحات موضوعية: Oncology, Adult, Cancer Research, medicine.medical_specialty, High -grade serous epithelial ovarian cancer, Multivariate analysis, medicine.medical_treatment, In silico, PPP1R12A, integrative pathway analyse, Disease, integrative pathway analyses, 03 medical and health sciences, Myosin-Light-Chain Phosphatase, PRKG1, 0302 clinical medicine, Internal medicine, microRNA, Serous ovarian cancer, medicine, Humans, prognostic signature, Gene, Aged, Cyclic GMP-Dependent Protein Kinase Type I, Platinum, Retrospective Studies, Ovarian Neoplasms, Chemotherapy, business.industry, Gene Expression Profiling, Membrane Proteins, Middle Aged, Prognosis, Survival Analysis, Cystadenocarcinoma, Serous, Gene Expression Regulation, Neoplastic, Treatment Outcome, SDF2L1, 030220 oncology & carcinogenesis, Cohort, Female, Neoplasm Grading, business, high-grade serous epithelial ovarian cancer
وصف الملف: ELETTRONICO
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11Dissertation/ Thesis
المؤلفون: 河野,愛
مصطلحات موضوعية: 妊娠高血圧症候群, Hypretensive disorders of pregnancy, PPP1R12A遺伝子, PPP1R12A gene, 一塩基バリアント, single nucleotide variant, ハプロタイプ, haplotype, 関連解析, association study, Thesis or Dissertation
وصف الملف: application/pdf
Relation: http://repository.nihon-u.ac.jp/xmlui/handle/11263/1536; 32665甲第5472号
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12Electronic Resource
المؤلفون: Benvenuto, G, Todeschini, P, Paracchini, L, Calura, E, Fruscio, R, Romani, C, Beltrame, L, Martini, P, Ravaggi, A, Ceppi, L, Sales, G, Donati, F, Perego, P, Zanotti, L, Ballabio, S, Grassi, T, Marchette, M, Tognon, G, Sartori, E, Adorni, M, Odicino, F, D'Incalci, M, Bignotti, E, Romualdi, C, Marchini, S, Benvenuto, Giuseppe, Todeschini, Paola, Paracchini, Lara, Calura, Enrica, Fruscio, Robert, Romani, Chiara, Beltrame, Luca, Martini, Paolo, Ravaggi, Antonella, Ceppi, Lorenzo, Sales, Gabriele, Donati, Federica, Perego, Patrizia, Zanotti, Laura, Ballabio, Sara, Grassi, Tommaso, Marchette, Martina Delle, Tognon, Germana, Sartori, Enrico, Adorni, Marco, Odicino, Franco, D'Incalci, Maurizio, Bignotti, Eliana, Romualdi, Chiara, Marchini, Sergio
مصطلحات الفهرس: High -grade serous epithelial ovarian cancer, PPP1R12A, PRKG1, SDF2L1, integrative pathway analyse, prognostic signature, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10281/263907
info:eu-repo/semantics/altIdentifier/pmid/32096871
info:eu-repo/semantics/altIdentifier/wos/WOS:000534818500028
volume:147
issue:2
firstpage:565
lastpage:574
journal:INTERNATIONAL JOURNAL OF CANCER -
13Electronic Resource
المؤلفون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), European Commission, Centro de Investigación Biomédica en Red Cáncer (España), Instituto de Salud Carlos III, Junta de Andalucía, Fundación Científica Asociación Española Contra el Cáncer, Fundación Eugenio Rodríguez Pascual, Muñoz-Galván, Sandra, Felipe-Abrio, Blanca, Verdugo-Sivianes, Eva M., Pérez, Marco, Jiménez-García, Manuel, Suarez-Martinez, Elisa, Estévez-García, Purificación, Carnero, Amancio
مصطلحات الفهرس: Ovarian cancer, MYPT1 (PPP1R12A), miR-30b, Therapy resistance, Hippo pathway, Stemness, artículo
URL:
http://hdl.handle.net/10261/236316 http://doi.org/10.1186/s12943-020-1130-z
Publisher's versionhttp://doi.org/10.1186/s12943-020-1130-z
Sí
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/RTI2018–097455-B-I00