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 *

548 related articles for article (PubMed ID: 32074998)

  • 21. A novel nonsense mutation in PPP2R5D is associated with neurodevelopmental disorders and shows incomplete penetrance in a Chinese pedigree.
    Liu R; Huang Y; Li C; Wang P; Wang Y; Zhang L
    Clin Neurol Neurosurg; 2022 Dec; 223():107524. PubMed ID: 36403339
    [TBL] [Abstract][Full Text] [Related]  

  • 22. PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases.
    Madaan P; Kaur A; Saini L; Paria P; Vyas S; Sharma AR; Sahu JK
    Neuropediatrics; 2022 Feb; 53(1):20-25. PubMed ID: 34448180
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Differential expression of the catalytic subunits for PP-1 and PP-2A and the regulatory subunits for PP-2A in mouse eye.
    Liu WB; Li Y; Zhang L; Chen HG; Sun S; Liu JP; Liu Y; Li DW
    Mol Vis; 2008 Apr; 14():762-73. PubMed ID: 18432318
    [TBL] [Abstract][Full Text] [Related]  

  • 24. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
    Ma L; Bayram Y; McLaughlin HM; Cho MT; Krokosky A; Turner CE; Lindstrom K; Bupp CP; Mayberry K; Mu W; Bodurtha J; Weinstein V; Zadeh N; Alcaraz W; Powis Z; Shao Y; Scott DA; Lewis AM; White JJ; Jhangiani SN; Gulec EY; Lalani SR; Lupski JR; Retterer K; Schnur RE; Wentzensen IM; Bale S; Chung WK
    Hum Genet; 2016 Dec; 135(12):1399-1409. PubMed ID: 27681385
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.
    Levine AD; Chung WK
    Cold Spring Harb Mol Case Stud; 2023 Jun; 9(3):. PubMed ID: 37339871
    [TBL] [Abstract][Full Text] [Related]  

  • 26. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
    Okur V; Cho MT; Henderson L; Retterer K; Schneider M; Sattler S; Niyazov D; Azage M; Smith S; Picker J; Lincoln S; Tarnopolsky M; Brady L; Bjornsson HT; Applegate C; Dameron A; Willaert R; Baskin B; Juusola J; Chung WK
    Hum Genet; 2016 Jul; 135(7):699-705. PubMed ID: 27048600
    [TBL] [Abstract][Full Text] [Related]  

  • 27. PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
    Fevga C; Tesson C; Carreras Mascaro A; Courtin T; van Coller R; Sakka S; Ferraro F; Farhat N; Bardien S; Damak M; Carr J; Ferrien M; Boumeester V; Hundscheid J; Grillenzoni N; Kessissoglou IA; Kuipers DJS; Quadri M; ; ; Corvol JC; Mhiri C; Hassan BA; Breedveld GJ; Lesage S; Mandemakers W; Brice A; Bonifati V
    Brain; 2023 Apr; 146(4):1496-1510. PubMed ID: 36073231
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
    Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; Ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT
    Am J Hum Genet; 2021 Sep; 108(9):1692-1709. PubMed ID: 34375587
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Diversity in genomic organisation, developmental regulation and distribution of the murine PR72/B" subunits of protein phosphatase 2A.
    Zwaenepoel K; Louis JV; Goris J; Janssens V
    BMC Genomics; 2008 Aug; 9():393. PubMed ID: 18715506
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
    Liu Z; Xin B; Smith IN; Sency V; Szekely J; Alkelai A; Shuldiner A; Efthymiou S; Rajabi F; Coury S; Brownstein CA; Rudnik-Schöneborn S; Bruel AL; Thevenon J; Zeidler S; Jayakar P; Schmidt A; Cremer K; Engels H; Peters SO; Zaki MS; Duan R; Zhu C; Xu Y; Gao C; Sepulveda-Morales T; Maroofian R; Alkhawaja IA; Khawaja M; Alhalasah H; Houlden H; Madden JA; Turchetti V; Marafi D; Agrawal PB; Schatz U; Rotenberg A; Rotenberg J; Mancini GMS; Bakhtiari S; Kruer M; Thiffault I; Hirsch S; Hempel M; Stühn LG; Haack TB; Posey JE; Lupski JR; Lee H; Sarn NB; Eng C; Gonzaga-Jauregui C; Zhang B; Wang H
    Hum Mol Genet; 2023 Oct; 32(20):2981-2995. PubMed ID: 37531237
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Thirteen New Patients of
    Jiang Y; Wu B; Zhang X; Yang L; Wang S; Li H; Zhou S; Qian Y; Wang H
    Children (Basel); 2024 Jul; 11(8):. PubMed ID: 39201832
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Protein Phosphatase 2A: a Double-Faced Phosphatase of Cellular System and Its Role in Neurodegenerative Disorders.
    Nematullah M; Hoda MN; Khan F
    Mol Neurobiol; 2018 Feb; 55(2):1750-1761. PubMed ID: 28224476
    [TBL] [Abstract][Full Text] [Related]  

  • 34. PP2A holoenzyme assembly: in cauda venenum (the sting is in the tail).
    Janssens V; Longin S; Goris J
    Trends Biochem Sci; 2008 Mar; 33(3):113-21. PubMed ID: 18291659
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Regulatory B Subunits of Protein Phosphatase 2A Are Involved in Site-specific Regulation of Tau Protein Phosphorylation.
    Yu UY; Yoo BC; Ahn JH
    Korean J Physiol Pharmacol; 2014 Apr; 18(2):155-61. PubMed ID: 24757378
    [TBL] [Abstract][Full Text] [Related]  

  • 36. PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
    Yau WY; Vijayan S; Ravenscroft G
    Parkinsonism Relat Disord; 2024 Jul; 124():106976. PubMed ID: 38718479
    [TBL] [Abstract][Full Text] [Related]  

  • 37. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
    Royer-Bertrand B; Jequier Gygax M; Cisarova K; Rosenfeld JA; Bassetti JA; Moldovan O; O'Heir E; Burrage LC; Allen J; Emrick LT; Eastman E; Kumps C; Abbas S; Van Winckel G; ; Chabane N; Zackai EH; Lebon S; Keena B; Bhoj EJ; Umair M; Li D; Donald KA; Superti-Furga A
    Mol Autism; 2021 Oct; 12(1):69. PubMed ID: 34702355
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and molecular characteristics of a novel rare
    Verbinnen I; Procknow SS; Lenaerts L; Reynhout S; Mehregan A; Ulens C; Janssens V; King KA
    Front Cell Dev Biol; 2022; 10():1059938. PubMed ID: 36531959
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Visualization of subunit interactions and ternary complexes of protein phosphatase 2A in mammalian cells.
    Mo ST; Chiang SJ; Lai TY; Cheng YL; Chung CE; Kuo SC; Reece KM; Chen YC; Chang NS; Wadzinski BE; Chiang CW
    PLoS One; 2014; 9(12):e116074. PubMed ID: 25536081
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Distinct Clades of Protein Phosphatase 2A Regulatory B'/B56 Subunits Engage in Different Physiological Processes.
    Heidari B; Nemie-Feyissa D; Lillo C
    Int J Mol Sci; 2023 Jul; 24(15):. PubMed ID: 37569631
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 28.