BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 32779419)

  • 1. Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.
    Köse E; Köse M; Edizer S; Akışın Z; Yılmaz ZB; Şahin A; Genel F
    Turk J Pediatr; 2020; 62(4):652-656. PubMed ID: 32779419
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.
    Barøy T; Pedurupillay CR; Bliksrud YT; Rasmussen M; Holmgren A; Vigeland MD; Hughes T; Brink M; Rodenburg R; Nedregaard B; Strømme P; Frengen E; Misceo D
    Eur J Med Genet; 2016 Jun; 59(6-7):342-6. PubMed ID: 27182039
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.
    Saini N; Vijayasree V; Nandury EC; Dalal A; Aggarwal S
    Prenat Diagn; 2022 Dec; 42(13):1682-1685. PubMed ID: 36411461
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular and clinical spectra of FBXL4 deficiency.
    El-Hattab AW; Dai H; Almannai M; Wang J; Faqeih EA; Al Asmari A; Saleh MAM; Elamin MAO; Alfadhel M; Alkuraya FS; Hashem M; Aldosary MS; Almass R; Almutairi FB; Alsagob M; Al-Owain M; Al-Sharfa S; Al-Hassnan ZN; Rahbeeni Z; Al-Muhaizea MA; Makhseed N; Foskett GK; Stevenson DA; Gomez-Ospina N; Lee C; Boles RG; Schrier Vergano SA; Wortmann SB; Sperl W; Opladen T; Hoffmann GF; Hempel M; Prokisch H; Alhaddad B; Mayr JA; Chan W; Kaya N; Wong LC
    Hum Mutat; 2017 Dec; 38(12):1649-1659. PubMed ID: 28940506
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel
    Oncul U; Kose E; Eminoglu FT
    Mol Syndromol; 2021 Aug; 12(5):294-299. PubMed ID: 34602956
    [TBL] [Abstract][Full Text] [Related]  

  • 6. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.
    Dai H; Zhang VW; El-Hattab AW; Ficicioglu C; Shinawi M; Lines M; Schulze A; McNutt M; Gotway G; Tian X; Chen S; Wang J; Craigen WJ; Wong LJ
    Clin Genet; 2017 Apr; 91(4):634-639. PubMed ID: 27743463
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
    Huemer M; Karall D; Schossig A; Abdenur JE; Al Jasmi F; Biagosch C; Distelmaier F; Freisinger P; Graham BH; Haack TB; Hauser N; Hertecant J; Ebrahimi-Fakhari D; Konstantopoulou V; Leydiker K; Lourenco CM; Scholl-Bürgi S; Wilichowski E; Wolf NI; Wortmann SB; Taylor RW; Mayr JA; Bonnen PE; Sperl W; Prokisch H; McFarland R
    J Inherit Metab Dis; 2015 Sep; 38(5):905-14. PubMed ID: 25868664
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.
    Sabouny R; Wong R; Lee-Glover L; Greenway SC; Sinasac DS; ; Khan A; Shutt TE
    Biochim Biophys Acta Mol Basis Dis; 2019 Nov; 1865(11):165536. PubMed ID: 31442532
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    Ballout RA; Al Alam C; Bonnen PE; Huemer M; El-Hattab AW; Shbarou R
    Front Genet; 2019; 10():39. PubMed ID: 30804983
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
    Bonnen PE; Yarham JW; Besse A; Wu P; Faqeih EA; Al-Asmari AM; Saleh MA; Eyaid W; Hadeel A; He L; Smith F; Yau S; Simcox EM; Miwa S; Donti T; Abu-Amero KK; Wong LJ; Craigen WJ; Graham BH; Scott KL; McFarland R; Taylor RW
    Am J Hum Genet; 2013 Sep; 93(3):471-81. PubMed ID: 23993193
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13.
    Wang S; Lin L; Wang Y; Wang A; Liu Z; Wu S; Lan X; Jia J; Zhang Y; Yuan F; Wang C; Luo X; Sun X; Avula SK; Tolaymat A; Liu C; Ren Y; Chen Y
    J Neurol Sci; 2020 Sep; 416():116948. PubMed ID: 32559514
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
    Gai X; Ghezzi D; Johnson MA; Biagosch CA; Shamseldin HE; Haack TB; Reyes A; Tsukikawa M; Sheldon CA; Srinivasan S; Gorza M; Kremer LS; Wieland T; Strom TM; Polyak E; Place E; Consugar M; Ostrovsky J; Vidoni S; Robinson AJ; Wong LJ; Sondheimer N; Salih MA; Al-Jishi E; Raab CP; Bean C; Furlan F; Parini R; Lamperti C; Mayr JA; Konstantopoulou V; Huemer M; Pierce EA; Meitinger T; Freisinger P; Sperl W; Prokisch H; Alkuraya FS; Falk MJ; Zeviani M
    Am J Hum Genet; 2013 Sep; 93(3):482-95. PubMed ID: 23993194
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.
    Alotaibi M; Alqasmi A; Albassam F; Alkahtani T; Alqahtany M; Alkhaldi M
    Glob Med Genet; 2023 Dec; 10(4):278-281. PubMed ID: 37822418
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
    Kuptanon C; Srichomthong C; Ittiwut C; Wechapinan T; Sri-Udomkajorn S; Iamopas O; Phokaew C; Suphapeetiporn K; Shotelersuk V
    Gene; 2019 May; 696():21-27. PubMed ID: 30771478
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.
    Gao K; Chen Y; Mo R; Wang C
    Autophagy; 2024 Feb; 20(2):460-462. PubMed ID: 37876279
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
    İnci A; Aktaş E; Cengiz Ergin FB; Okur İ; Biberoğlu G; Ezgü FS; Tümer L
    JPEN J Parenter Enteral Nutr; 2021 Nov; 45(8):1788-1792. PubMed ID: 33882172
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
    Liu Z; Fang F; Ding C; Wu H; Lyu J; Wu Y
    Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):817-21. PubMed ID: 25582465
    [TBL] [Abstract][Full Text] [Related]  

  • 18. FBXL4 mutation-caused mitochondrial DNA depletion syndrome is driven by BNIP3/BNIP3L-dependent excessive mitophagy.
    Gao K; Xu X; Wang C
    Trends Mol Med; 2024 Feb; 30(2):113-116. PubMed ID: 38123379
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
    Emperador S; Garrido-Pérez N; Amezcua-Gil J; Gaudó P; Andrés-Sanz JA; Yubero D; Fernández-Marmiesse A; O'Callaghan MM; Ortigoza-Escobar JD; Iriondo M; Ruiz-Pesini E; García-Cazorla A; Gil-Campos M; Artuch R; Montoya J; Bayona-Bafaluy MP
    Front Genet; 2019; 10():1300. PubMed ID: 31969900
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.