These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 23648696)

  • 21. Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.
    Tamayo M; Fulgencio-Covián A; Navarro-García JA; Val-Blasco A; Ruiz-Hurtado G; Gil-Fernández M; Martín-Nunes L; Lopez JA; Desviat LR; Delgado C; Richard E; Fernández-Velasco M
    Biochim Biophys Acta Mol Basis Dis; 2020 Jan; 1866(1):165586. PubMed ID: 31678161
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
    Rivera-Barahona A; Navarrete R; García-Rodríguez R; Richard E; Ugarte M; Pérez-Cerda C; Pérez B; Gámez A; Desviat LR
    Mol Genet Metab; 2018 Nov; 125(3):266-275. PubMed ID: 30274917
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene.
    Miyazaki T; Ohura T; Kobayashi M; Shigematsu Y; Yamaguchi S; Suzuki Y; Hata I; Aoki Y; Yang X; Minjares C; Haruta I; Uto H; Ito Y; Müller U
    J Biol Chem; 2001 Sep; 276(38):35995-9. PubMed ID: 11461925
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.
    Wang H; Meng L; Li W; Du J; Tan Y; Gong F; Lu G; Lin G; Zhang Q
    Clin Chim Acta; 2020 Mar; 502():153-158. PubMed ID: 31893529
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
    Tian Y; Wang G; Shi W; Bai X
    BMC Pregnancy Childbirth; 2020 Nov; 20(1):689. PubMed ID: 33183246
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
    Chiu YH; Liu YN; Liao WL; Chang YC; Lin SP; Hsu CC; Chiu PC; Niu DM; Wang CH; Ke YY; Chien YH; Hsiao KJ; Liu TT
    Biochem Genet; 2014 Oct; 52(9-10):415-29. PubMed ID: 24863100
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.
    Gupta D; Bijarnia-Mahay S; Kohli S; Saxena R; Puri RD; Shigematsu Y; Yamaguchi S; Sakamoto O; Gupta N; Kabra M; Thakur S; Deb R; Verma IC
    Genet Test Mol Biomarkers; 2016 Jul; 20(7):373-82. PubMed ID: 27227689
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.
    Riemersma M; Hazebroek MR; Helderman-van den Enden ATJM; Salomons GS; Ferdinandusse S; Brouwers MCGJ; van der Ploeg L; Heymans S; Glatz JFC; van den Wijngaard A; Krapels IPC; Bierau J; Brunner HG
    Eur J Hum Genet; 2017 Nov; 25(11):1195-1201. PubMed ID: 28853722
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia.
    Gotoh K; Nakajima Y; Tajima G; Watanabe Y; Hotta Y; Kataoka T; Kawade Y; Sugiyama N; Ito T; Kimura K; Maeda Y
    J Chromatogr B Analyt Technol Biomed Life Sci; 2017 Mar; 1046():195-199. PubMed ID: 28189105
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
    Chen Z; Wen P; Wang G; Hu Y; Liu X; Chen L; Chen S; Wan L; Cui D; Shang Y; Li C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):26-30. PubMed ID: 25636094
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.
    Collado MS; Armstrong AJ; Olson M; Hoang SA; Day N; Summar M; Chapman KA; Reardon J; Figler RA; Wamhoff BR
    Mol Genet Metab; 2020 Jul; 130(3):183-196. PubMed ID: 32451238
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Propionic acidemia in the Arab World.
    Zayed H
    Gene; 2015 Jun; 564(2):119-24. PubMed ID: 25865301
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.
    Sánchez-Alcudia R; Pérez B; Ugarte M; Desviat LR
    Hum Mutat; 2012 Jun; 33(6):973-80. PubMed ID: 22334403
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
    Shchelochkov OA; Farmer CA; Chlebowski C; Adedipe D; Ferry S; Manoli I; Pass A; McCoy S; Van Ryzin C; Sloan J; Thurm A; Venditti CP
    Mol Psychiatry; 2024 Apr; 29(4):974-981. PubMed ID: 38200289
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
    Rincón A; Aguado C; Desviat LR; Sánchez-Alcudia R; Ugarte M; Pérez B
    Am J Hum Genet; 2007 Dec; 81(6):1262-70. PubMed ID: 17966092
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations.
    Kör D; Şeker-Yılmaz B; Bulut FD; Kılavuz S; Öktem M; Ceylaner S; Yıldızdaş D; Önenli-Mungan N
    Turk J Pediatr; 2019; 61(3):330-336. PubMed ID: 31916709
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Clinical, biochemical and molecular findings of propionic acidemia].
    Cammarata-Scalisi F; Yen-Hui C; Tze-Tze L; Da Silva G; Araque D; Callea M; Avendaño A
    Arch Argent Pediatr; 2019 Jun; 117(3):e288-e291. PubMed ID: 31063319
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.
    Wang HR; Liu YQ; He XL; Sun J; Zeng FW; Yan CB; Li H; Gao SY; Yang Y
    BMC Med Genet; 2020 Aug; 21(1):166. PubMed ID: 32819290
    [TBL] [Abstract][Full Text] [Related]  

  • 39. In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
    Gallego-Villar L; Rivera-Barahona A; Cuevas-Martín C; Guenzel A; Pérez B; Barry MA; Murphy MP; Logan A; Gonzalez-Quintana A; Martín MA; Medina S; Gil-Izquierdo A; Cuezva JM; Richard E; Desviat LR
    Free Radic Biol Med; 2016 Jul; 96():1-12. PubMed ID: 27083476
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
    Vatanavicharn N; Liammongkolkul S; Sakamoto O; Kamolsilp M; Sathienkijkanchai A; Wasant P
    World J Pediatr; 2014 Feb; 10(1):64-8. PubMed ID: 24464666
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.