Zobrazeno 1 - 10
of 316
pro vyhledávání: '"pcca"'
Autor:
Julaluck Promsorn, Panjaporn Naknan, Aumkhae Sookprasert, Kosin Wirasorn, Jarin Chindaprasirt, Attapol Titapun, Piyapharom Intarawichian, Mukesh Harisinghani
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28805- (2024)
Objective: To study which radiographic features were associated with recurrence and adverse outcome in patients undergoing surgical resection of perihilar cholangiocarcinoma (PCCA), as well as to evaluate the imaging patterns that signify recurrence
Externí odkaz:
https://doaj.org/article/a554408d42944d6cbbfb536c821450b2
Autor:
Abdullah Esmail, Mohamed Badheeb, Batool Wael Alnahar, Bushray Almiqlash, Yara Sakr, Ebtesam Al-Najjar, Ali Awas, Mohammad Alsayed, Bayan Khasawneh, Mohammed Alkhulaifawi, Amneh Alsaleh, Ala Abudayyeh, Yaser Rayyan, Maen Abdelrahim
Publikováno v:
Pharmaceuticals, Vol 17, Iss 7, p 910 (2024)
Cholangiocarcinoma (CCA) is a hepatic malignancy that has a rapidly increasing incidence. CCA is anatomically classified into intrahepatic (iCCA) and extrahepatic (eCCA), which is further divided into perihilar (pCCA) and distal (dCCA) subtypes, with
Externí odkaz:
https://doaj.org/article/5c120aa62630452bb6a4e46d09f220aa
Autor:
Yixing Zhang, Chuwen Peng, Lifang Wang, Sitong Chen, Junwei Wang, Ziheng Tian, Chuangong Wang, Xiaoxin Chen, Suhong Zhu, Guo-Fang Zhang, You Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-21 (2023)
Abstract Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. Elevated propionylcarnitine, 2-methylcitric acid (2MCA), propionylglycine, glycine and 3-hydroxypropionate can be used to
Externí odkaz:
https://doaj.org/article/869051068cf243b2a4e0e3642aacae3d
Autor:
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
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102101- (2024)
Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA and interferes with normal gene expression. The PCCA c.1285-1416A>G variation activates a ps
Externí odkaz:
https://doaj.org/article/ff8b723093454117929845437197aef9
Autor:
Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang, Yanling Yang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical features and outcome
Externí odkaz:
https://doaj.org/article/e9538ad406b547aba2de3f8d73a34bf5
Publikováno v:
Frontiers in Environmental Science, Vol 10 (2022)
Determining the composition, particle size distribution and concentration changes of suspended particulate matter in the atmosphere is important for evaluating the quality of air and its impact on public health. The scattering and absorption of light
Externí odkaz:
https://doaj.org/article/c53472b3f63c48a79032b9b1971d05dd
Publikováno v:
BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-4 (2020)
Abstract Background Propionic acidemia (PA) is a severe monogenic disorder characterized by a deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) enzyme, which is caused by mutations in the PCCA or PCCB gene. Preconception carrier
Externí odkaz:
https://doaj.org/article/80d4d323d439425c865ff00030ed719a
Autor:
Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. Case presentation Here we r
Externí odkaz:
https://doaj.org/article/97f740796a8941f5994909435bc18dd4
Autor:
Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng, Xin Fan
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either of the two genes PCCA
Externí odkaz:
https://doaj.org/article/d3fba1a78d094d2d809cb630bafa1937
Autor:
Tingyu Rong, Ruen Yao, Yujiao Deng, Qingmin Lin, Guanghai Wang, Jian Wang, Fan Jiang, Yanrui Jiang
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental de
Externí odkaz:
https://doaj.org/article/3b40f2de7b5a461889f996ad84823cd3