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Items: 1 to 20 of 266

1.
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia
Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen
Mol Ther Nucleic Acids. 2024 Mar 12; 35(1): 102101. Published online 2023 Dec 13. doi: 10.1016/j.omtn.2023.102101
PMCID:
PMC10776996
AbstractArticlePDF–3.9M
2.
Endoscopic Biliary Darinage (EBD) versus Percutaneous Transhepatic Biliary Drainage (PTBD) for biliary drainage in patients with Perihilar Cholangiocarcinoma (PCCA): A systematic review and meta-analysis
Caroline Flaksbaum Moll, Diogo Turiani Hourneaux de Moura, Igor Braga Ribeiro, Igor Mendoça Proença, Epifanio Silvino do Monte Junior, Sergio A. Sánchez-Luna, Maria Fernanda Shinin Merchán, Josselyn Mariana Vera Intriago, Wanderley Marques Bernardo, Eduardo Guimarães Hourneaux de Moura
Clinics (Sao Paulo) 2023 Jan-Dec; 78: 100163. Published online 2023 Jan 19. doi: 10.1016/j.clinsp.2022.100163
PMCID:
PMC10757298
AbstractArticlePDF–2.2M
3.
Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer
Zhongxiang Du, Xiajun Zhang, Weiya Gao, Jie Yang
Sci Prog. 2021 Apr-Jun; 104(2): 00368504211011344. Published online 2021 Apr 21. doi: 10.1177/00368504211011344
PMCID:
PMC10358502
AbstractArticlePDF–606K
4.
PCCA-Model: an attention module for medical image segmentation
Linjie Liu, Guanglei Wang, Yanlin Wu, Hongrui Wang, Yan Li
Biomed Opt Express. 2023 Apr 1; 14(4): 1428–1444. Published online 2023 Mar 7. doi: 10.1364/BOE.478058
PMCID:
PMC10110329
AbstractArticlePDF–3.8M
5.
Development of simple and effective PCR based assay to detect PCCA mutation (c.425G > A) among Saudi carriers and functional study of the homozygous PCCA mutations
Ali Al-Asmari, Abdul Ali Peer-Zada, Abdulwahed AlDehaimi, Constantin Polychronakos, Aziz A. Chentoufi
Saudi J Biol Sci. 2022 Dec; 29(12): 103461. Published online 2022 Sep 27. doi: 10.1016/j.sjbs.2022.103461
PMCID:
PMC9535431
AbstractArticlePDF–1.5M
6.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease
Swetha Ramadesikan, Scott Hickey, Emily De Los Reyes, Anup D. Patel, Samuel J. Franklin, Patrick Brennan, Erin Crist, Kristy Lee, Peter White, Kim L. McBride, Daniel C. Koboldt, Richard K. Wilson
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006165. doi: 10.1101/mcs.a006165
PMCID:
PMC8958912
AbstractArticlePDF–1.3M
7.
Inhibition of selenoprotein synthesis by Zika virus may contribute to congenital Zika syndrome and microcephaly by mimicking SELENOP knockout and the genetic disease PCCA
Gabrielle P. Dailey, Lakmini S. Premadasa, Jan A. Ruzicka, Ethan Will Taylor
BBA Adv. 2021; 1: 100023. Published online 2021 Aug 12. doi: 10.1016/j.bbadva.2021.100023
PMCID:
PMC8725645
AbstractArticlePDF–1.2M
8.
Physicochemical Stability of Compounded Allopurinol Suspensions in PCCA Base, SuspendIt
Yashoda V. Pramar, Tarun K. Mandal, Levon A. Bostanian, Giang Le, Tommy C. Morris, Richard A. Graves
Int J Pharm Compd. Author manuscript; available in PMC 2021 Nov 19.
Published in final edited form as: Int J Pharm Compd. 2020 Sep-Oct; 24(5): 413–419.
PMCID:
PMC8603380
AbstractArticlePDF–983K
9.
Physicochemical and Microbiological Stability of Compounded Metronidazole Suspensions in PCCA SuspendIt
Yashoda V. Pramar, Tarun K. Mandal, Levon A. Bostanian, Giang Le, Tommy C. Morris, Richard A. Graves
Int J Pharm Compd. Author manuscript; available in PMC 2021 Dec 1.
Published in final edited form as: Int J Pharm Compd. 2021 Mar-Apr; 25(2): 169–175.
PMCID:
PMC8567637
AbstractArticlePDF–1.8M
10.
Physicochemical Stability of Compounded Amlodipine Besylate Suspensions in PCCA Base, SuspendIt
Richard A. Graves, Tarun K. Mandal, Levon A. Bostanian, Anh T. Q. Nguyen, Demikka Swopes, Tommy C. Morris, Yashoda V. Pramar
Int J Pharm Compd. Author manuscript; available in PMC 2021 Nov 4.
Published in final edited form as: Int J Pharm Compd. 2019 Nov-Dec; 23(6): 519–527.
PMCID:
PMC8567615
AbstractArticlePDF–2.0M
11.
Impact of Body Mass Index on Tumor Recurrence in Patients Undergoing Liver Resection for Perihilar Cholangiocarcinoma (pCCA)
Hans-Michael Hau, Mareen Devantier, Nora Jahn, Elisabeth Sucher, Sebastian Rademacher, Daniel Seehofer, Robert Sucher
Cancers (Basel) 2021 Oct; 13(19): 4772. Published online 2021 Sep 24. doi: 10.3390/cancers13194772
PMCID:
PMC8507532
AbstractArticlePDF–714K
12.
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova
Int J Mol Sci. 2021 Apr; 22(8): 4154. Published online 2021 Apr 16. doi: 10.3390/ijms22084154
PMCID:
PMC8073151
AbstractArticlePDF–1.7M
13.
Selected Patients with Unresectable Perihilar Cholangiocarcinoma (pCCA) Derive Long-Term Benefit from Liver Transplantation
Adiba I. Azad, Charles B. Rosen, Timucin Taner, Julie K. Heimbach, Gregory J. Gores
Cancers (Basel) 2020 Nov; 12(11): 3157. Published online 2020 Oct 27. doi: 10.3390/cancers12113157
PMCID:
PMC7693604
AbstractArticlePDF–1.0M
14.
Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation
Ye Tian, Guojie Wang, Wujuan Shi, Xiaohong Bai
BMC Pregnancy Childbirth. 2020; 20: 689. Published online 2020 Nov 12. doi: 10.1186/s12884-020-03391-z
PMCID:
PMC7659086
AbstractArticlePDF–524K
15.
A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report
Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang
BMC Med Genet. 2020; 21: 166. Published online 2020 Aug 20. doi: 10.1186/s12881-020-01102-1
PMCID:
PMC7441651
AbstractArticlePDF–1.1M
16.
Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng, Xin Fan
BMC Med Genet. 2020; 21: 72. Published online 2020 Apr 6. doi: 10.1186/s12881-020-01008-y
PMCID:
PMC7137301
AbstractArticlePDF–1.0M
17.
A New, Carbon-Negative Precipitated Calcium Carbonate Admixture (PCC-A) for Low Carbon Portland Cements
Lewis McDonald, Fredrik P. Glasser, Mohammed S. Imbabi
Materials (Basel) 2019 Feb; 12(4): 554. Published online 2019 Feb 13. doi: 10.3390/ma12040554
PMCID:
PMC6416591
AbstractArticlePDF–8.6M
18.
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel
Yanyun Wang, Yun Sun, Tao Jiang
Front Pediatr. 2018; 6: 233. Published online 2018 Aug 21. doi: 10.3389/fped.2018.00233
PMCID:
PMC6110811
AbstractArticlePDF–538K
19.
Effect of Substitution on the Aniline Moiety of the GPR88 Agonist 2-PCCA: Synthesis, Structure–Activity Relationships, and Molecular Modeling Studies
Chunyang Jin, Ann M. Decker, Danni L. Harris, Bruce E. Blough
ACS Chem Neurosci. Author manuscript; available in PMC 2016 Oct 19.
Published in final edited form as: ACS Chem Neurosci. 2016 Oct 19; 7(10): 1418–1432. Published online 2016 Aug 16. doi: 10.1021/acschemneuro.6b00182
PMCID:
PMC5071162
AbstractArticlePDF–761K
20.
Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine, Dan Su, Ginat Narkis, Rivka Ofir, Chen Hoffmann, Esther Leshinsky-Silver, Hagit Flusser, Sara Sivan, Dieter Söll, Tally Lerman-Sagie, Ohad S. Birk
Am J Hum Genet. 2010 Oct 8; 87(4): 538–544. doi: 10.1016/j.ajhg.2010.09.007
PMCID:
PMC2948803
AbstractArticlePDF–1.2M

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