BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 29276004)

  • 1. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
    Straub J; Konrad EDH; Grüner J; Toutain A; Bok LA; Cho MT; Crawford HP; Dubbs H; Douglas G; Jobling R; Johnson D; Krock B; Mikati MA; Nesbitt A; Nicolai J; Phillips M; Poduri A; Ortiz-Gonzalez XR; Powis Z; Santani A; Smith L; Stegmann APA; Stumpel C; Vreeburg M; ; Fliedner A; Gregor A; Sticht H; Zweier C
    Am J Hum Genet; 2018 Jan; 102(1):44-57. PubMed ID: 29276004
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
    Langhammer F; Maroofian R; Badar R; Gregor A; Rochman M; Ratliff JB; Koopmans M; Herget T; Hempel M; Kortüm F; Heron D; Mignot C; Keren B; Brooks S; Botti C; Ben-Zeev B; Argilli E; Sherr EH; Gowda VK; Srinivasan VM; Bakhtiari S; Kruer MC; Salih MA; Kuechler A; Muller EA; Blocker K; Kuismin O; Park KL; Kochhar A; Brown K; Ramanathan S; Clark RD; Elgizouli M; Melikishvili G; Tabatadze N; Stark Z; Mirzaa GM; Ong J; Grasshoff U; Bevot A; von Wintzingerode L; Jamra RA; Hennig Y; Goldenberg P; Al Alam C; Charif M; Boulouiz R; Bellaoui M; Amrani R; Al Mutairi F; Tamim AM; Abdulwahab F; Alkuraya FS; Khouj EM; Alvi JR; Sultan T; Hashemi N; Karimiani EG; Ashrafzadeh F; Imannezhad S; Efthymiou S; Houlden H; Sticht H; Zweier C
    Genet Med; 2023 Aug; 25(8):100885. PubMed ID: 37165955
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
    Belal H; Nakashima M; Matsumoto H; Yokochi K; Taniguchi-Ikeda M; Aoto K; Amin MB; Maruyama A; Nagase H; Mizuguchi T; Miyatake S; Miyake N; Iijima K; Nonoyama S; Matsumoto N; Saitsu H
    Hum Mutat; 2018 Aug; 39(8):1070-1075. PubMed ID: 29768694
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.
    Defo A; Verloes A; Elenga N
    Mol Genet Genomic Med; 2022 Jun; 10(6):e1929. PubMed ID: 35315256
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Zagaglia S; Steel D; Krithika S; Hernandez-Hernandez L; Custodio HM; Gorman KM; Vezyroglou A; Møller RS; King MD; Hammer TB; Spaull R; Fazeli W; Bartolomaeus T; Doummar D; Keren B; Mignot C; Bednarek N; Cross JH; Mallick AA; Sanchis-Juan A; Basu A; Raymond FL; Lynch BJ; Majumdar A; Stamberger H; Weckhuysen S; Sisodiya SM; Kurian MA
    Neurology; 2021 Mar; 96(11):e1539-e1550. PubMed ID: 33504645
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
    Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
    Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rho GTPases of the RhoBTB subfamily and tumorigenesis.
    Berthold J; Schenkova K; Rivero F
    Acta Pharmacol Sin; 2008 Mar; 29(3):285-95. PubMed ID: 18298893
    [TBL] [Abstract][Full Text] [Related]  

  • 8. RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report.
    Fonseca J; Melo C; Ferreira C; Sampaio M; Sousa R; Leão M
    J Pediatr Genet; 2023 Jun; 12(2):155-158. PubMed ID: 37090824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.
    Chung HL; Mao X; Wang H; Park YJ; Marcogliese PC; Rosenfeld JA; Burrage LC; Liu P; Murdock DR; Yamamoto S; Wangler MF; ; Chao HT; Long H; Feng L; Bacino CA; Bellen HJ; Xiao B
    Am J Hum Genet; 2020 May; 106(5):717-725. PubMed ID: 32330417
    [TBL] [Abstract][Full Text] [Related]  

  • 10. RhoBTB Proteins Regulate the Hippo Pathway by Antagonizing Ubiquitination of LKB1.
    Nguyen TH; Ralbovska A; Kugler JM
    G3 (Bethesda); 2020 Apr; 10(4):1319-1325. PubMed ID: 32111652
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of RHOBTB2 aberration as an independent prognostic indicator in acute myeloid leukemia.
    Liu P; Ma Q; Chen H; Zhang L; Zhang X
    Aging (Albany NY); 2021 Jun; 13(11):15269-15284. PubMed ID: 34074803
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
    Platzer K; Sticht H; Bupp C; Ganapathi M; Pereira EM; Le Guyader G; Bilan F; Henderson LB; Lemke JR; Taschenberger H; Brose N; Abou Jamra R; Wojcik SM
    Ann Neurol; 2022 Dec; 92(6):958-973. PubMed ID: 36073542
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse.
    Ramos S; Khademi F; Somesh BP; Rivero F
    Gene; 2002 Oct; 298(2):147-57. PubMed ID: 12426103
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.
    Knijnenburg ACS; Nicolai J; Bok LA; Bay A; Stegmann APA; Sinnema M; Vreeburg M
    Neurol Genet; 2020 Jun; 6(3):e418. PubMed ID: 32337345
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
    Lüthy K; Mei D; Fischer B; De Fusco M; Swerts J; Paesmans J; Parrini E; Lubarr N; Meijer IA; Mackenzie KM; Lee WT; Cittaro D; Aridon P; Schoovaerts N; Versées W; Verstreken P; Casari G; Guerrini R
    Brain; 2019 Aug; 142(8):2319-2335. PubMed ID: 31257402
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The atypical Rho GTPase RhoBTB2 is required for expression of the chemokine CXCL14 in normal and cancerous epithelial cells.
    McKinnon CM; Lygoe KA; Skelton L; Mitter R; Mellor H
    Oncogene; 2008 Nov; 27(54):6856-65. PubMed ID: 18762809
    [TBL] [Abstract][Full Text] [Related]  

  • 17. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
    Goodman LD; Cope H; Nil Z; Ravenscroft TA; Charng WL; Lu S; Tien AC; Pfundt R; Koolen DA; Haaxma CA; Veenstra-Knol HE; Wassink-Ruiter JSK; Wevers MR; Jones M; Walsh LE; Klee VH; Theunis M; Legius E; Steel D; Barwick KES; Kurian MA; Mohammad SS; Dale RC; Terhal PA; van Binsbergen E; Kirmse B; Robinette B; Cogné B; Isidor B; Grebe TA; Kulch P; Hainline BE; Sapp K; Morava E; Klee EW; Macke EL; Trapane P; Spencer C; Si Y; Begtrup A; Moulton MJ; Dutta D; Kanca O; ; Wangler MF; Yamamoto S; Bellen HJ; Tan QK
    Am J Hum Genet; 2021 Sep; 108(9):1669-1691. PubMed ID: 34314705
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Regulation of RhoBTB2 by the Cul3 ubiquitin ligase complex.
    Wilkins A; Carpenter CL
    Methods Enzymol; 2008; 439():103-9. PubMed ID: 18374159
    [TBL] [Abstract][Full Text] [Related]  

  • 19. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
    Barish S; Barakat TS; Michel BC; Mashtalir N; Phillips JB; Valencia AM; Ugur B; Wegner J; Scott TM; Bostwick B; ; Murdock DR; Dai H; Perenthaler E; Nikoncuk A; van Slegtenhorst M; Brooks AS; Keren B; Nava C; Mignot C; Douglas J; Rodan L; Nowak C; Ellard S; Stals K; Lynch SA; Faoucher M; Lesca G; Edery P; Engleman KL; Zhou D; Thiffault I; Herriges J; Gass J; Louie RJ; Stolerman E; Washington C; Vetrini F; Otsubo A; Pratt VM; Conboy E; Treat K; Shannon N; Camacho J; Wakeling E; Yuan B; Chen CA; Rosenfeld JA; Westerfield M; Wangler M; Yamamoto S; Kadoch C; Scott DA; Bellen HJ
    Am J Hum Genet; 2020 Dec; 107(6):1096-1112. PubMed ID: 33232675
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy.
    Spagnoli C; Soliani L; Caraffi SG; Baga M; Rizzi S; Salerno GG; Frattini D; Garavelli L; Koskenvuo J; Pisani F; Fusco C
    Parkinsonism Relat Disord; 2020 Jul; 76():54-55. PubMed ID: 32810689
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.