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 *

152 related articles for article (PubMed ID: 38178891)

  • 1. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
    Scorrano G; Laura B; Spiaggia R; Basile A; Palmucci S; Foti PV; David E; Marinangeli F; Mascilini I; Corsello A; Comisi F; Vittori A; Salpietro V
    Front Neurol; 2023; 14():1301147. PubMed ID: 38178891
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
    Magyar CL; Murdock DR; Burrage LC; Dai H; Lalani SR; Lewis RA; Lin Y; Astudillo MF; Rosenfeld JA; Tran AA; Gibson JB; ; Bacino CA; Lee BH; Chao HT
    Am J Med Genet A; 2022 Jun; 188(6):1868-1874. PubMed ID: 35194938
    [TBL] [Abstract][Full Text] [Related]  

  • 3. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
    Nistala H; Dronzek J; Gonzaga-Jauregui C; Chim SM; Rajamani S; Nuwayhid S; Delgado D; Burke E; Karaca E; Franklin MC; Sarangapani P; Podgorski M; Tang Y; Dominguez MG; Withers M; Deckelbaum RA; Scheonherr CJ; Gahl WA; Malicdan MC; Zambrowicz B; Gale NW; Gibbs RA; Chung WK; Lupski JR; Economides AN
    Hum Mol Genet; 2021 Jan; 29(21):3516-3531. PubMed ID: 33105479
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
    Gholizadeh MA; Mohammadi-Sarband M; Fardanesh F; Garshasbi M
    BMC Med Genomics; 2022 Apr; 15(1):78. PubMed ID: 35379233
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Generation of Conditional Knockout Alleles for PRUNE-1.
    Wu X; Simard LR; Ding H
    Cells; 2023 Feb; 12(4):. PubMed ID: 36831191
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
    Alfadhel M; Nashabat M; Hundallah K; Al Hashem A; Alrumayyan A; Tabarki B
    Child Neurol Open; 2018; 5():2329048X17752237. PubMed ID: 29372174
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder.
    Fujii H; Sato N; Takanashi JI; Kimura Y; Morimoto E; Shigemoto Y; Suzuki F; Sasaki M; Sugimoto H
    Brain Dev; 2020 Mar; 42(3):302-306. PubMed ID: 31882333
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PRUNE1-related disorder: Expanding the clinical spectrum.
    Imagawa E; Yamamoto Y; Mitsuhashi S; Isidor B; Fukuyama T; Kato M; Sasaki M; Tanabe S; Miyatake S; Mizuguchi T; Takata A; Miyake N; Matsumoto N
    Clin Genet; 2018 Oct; 94(3-4):362-367. PubMed ID: 29797509
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
    Koko M; Yahia A; Elsayed LE; Hamed AA; Mohammed IN; Elseed MA; Hamad MHA; Babai AM; Siddig RA; Abd Allah ASI; Mohamed M; El-Amin M; Esteves T; Altmüller J; Toliat MR; Thiele H; Nürnberg P; Salih MA; Ahmed AE; Lerche H; Stevanin G
    Ann Hum Genet; 2021 Sep; 85(5):186-195. PubMed ID: 34111303
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
    Scorrano G; Battaglia L; Spiaggia R; Basile A; Palmucci S; Foti PV; David E; Marinangeli F; Mascilini I; Corsello A; Comisi F; Vittori A; Salpietro V
    Front Neurol; 2024; 15():1360347. PubMed ID: 38375463
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
    Zollo M; Ahmed M; Ferrucci V; Salpietro V; Asadzadeh F; Carotenuto M; Maroofian R; Al-Amri A; Singh R; Scognamiglio I; Mojarrad M; Musella L; Duilio A; Di Somma A; Karaca E; Rajab A; Al-Khayat A; Mohan Mohapatra T; Eslahi A; Ashrafzadeh F; Rawlins LE; Prasad R; Gupta R; Kumari P; Srivastava M; Cozzolino F; Kumar Rai S; Monti M; Harlalka GV; Simpson MA; Rich P; Al-Salmi F; Patton MA; Chioza BA; Efthymiou S; Granata F; Di Rosa G; Wiethoff S; Borgione E; Scuderi C; Mankad K; Hanna MG; Pucci P; Houlden H; Lupski JR; Crosby AH; Baple EL
    Brain; 2017 Apr; 140(4):940-952. PubMed ID: 28334956
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuroimaging features of WOREE syndrome: a mini-review of the literature.
    Battaglia L; Scorrano G; Spiaggia R; Basile A; Palmucci S; Foti PV; Spatola C; Iacomino M; Marinangeli F; Francia E; Comisi F; Corsello A; Salpietro V; Vittori A; David E
    Front Pediatr; 2023; 11():1301166. PubMed ID: 38161429
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
    Hartley JN; Simard LR; Ly V; Del Bigio MR; Frosk P
    Am J Med Genet A; 2019 Feb; 179(2):206-218. PubMed ID: 30556349
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.
    Costain G; Shugar A; Krishnan P; Mahmutoglu S; Laughlin S; Kannu P
    Am J Med Genet A; 2017 Mar; 173(3):740-743. PubMed ID: 28211990
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
    Bibbò F; Sorice C; Ferrucci V; Zollo M
    Front Oncol; 2021; 11():758146. PubMed ID: 34745995
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
    Alhaddad B; Schossig A; Haack TB; Kovács-Nagy R; Braunisch MC; Makowski C; Senderek J; Vill K; Müller-Felber W; Strom TM; Krabichler B; Freisinger P; Deshpande C; Polster T; Wolf NI; Desguerre I; Wörmann F; Rötig A; Ahting U; Kopajtich R; Prokisch H; Meitinger T; Feichtinger RG; Mayr JA; Jungbluth H; Hubmann M; Zschocke J; Distelmaier F; Koch J
    Neuropediatrics; 2018 Oct; 49(5):330-338. PubMed ID: 29940663
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PRUNE1 (located on chromosome 1q21.3) promotes multiple myeloma with 1q21 Gain by enhancing the links between purine and mitochondrion.
    Xu J; Wang Y; Li P; Chen C; Jiang Z; Wang X; Liu P
    Br J Haematol; 2023 Nov; 203(4):599-613. PubMed ID: 37666675
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Metastatic group 3 medulloblastoma is driven by PRUNE1 targeting NME1-TGF-β-OTX2-SNAIL via PTEN inhibition.
    Ferrucci V; de Antonellis P; Pennino FP; Asadzadeh F; Virgilio A; Montanaro D; Galeone A; Boffa I; Pisano I; Scognamiglio I; Navas L; Diana D; Pedone E; Gargiulo S; Gramanzini M; Brunetti A; Danielson L; Carotenuto M; Liguori L; Verrico A; Quaglietta L; Errico ME; Del Monaco V; D'Argenio V; Tirone F; Mastronuzzi A; Donofrio V; Giangaspero F; Picard D; Remke M; Garzia L; Daniels C; Delattre O; Swartling FJ; Weiss WA; Salvatore F; Fattorusso R; Chesler L; Taylor MD; Cinalli G; Zollo M
    Brain; 2018 May; 141(5):1300-1319. PubMed ID: 29490009
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Consolidating the association of biallelic
    Maroofian R; Efthymiou S; Suri M; Rahman F; Zaki MS; Maqbool S; Anwa N; Ruiz-Pérez VL; Yanovsky-Dagan S; Elpeleg O; Sudhakar S; Mankad K; Harel T; Houlden H
    J Med Genet; 2023 Aug; 60(8):791-796. PubMed ID: 36581449
    [TBL] [Abstract][Full Text] [Related]  

  • 20. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
    Byrne S; Jansen L; U-King-Im JM; Siddiqui A; Lidov HG; Bodi I; Smith L; Mein R; Cullup T; Dionisi-Vici C; Al-Gazali L; Al-Owain M; Bruwer Z; Al Thihli K; El-Garhy R; Flanigan KM; Manickam K; Zmuda E; Banks W; Gershoni-Baruch R; Mandel H; Dagan E; Raas-Rothschild A; Barash H; Filloux F; Creel D; Harris M; Hamosh A; Kölker S; Ebrahimi-Fakhari D; Hoffmann GF; Manchester D; Boyer PJ; Manzur AY; Lourenco CM; Pilz DT; Kamath A; Prabhakar P; Rao VK; Rogers RC; Ryan MM; Brown NJ; McLean CA; Said E; Schara U; Stein A; Sewry C; Travan L; Wijburg FA; Zenker M; Mohammed S; Fanto M; Gautel M; Jungbluth H
    Brain; 2016 Mar; 139(Pt 3):765-81. PubMed ID: 26917586
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.