BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 27185855)

  • 1. A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.
    Zhang S; Pondarre C; Pennarun G; Labussiere-Wallet H; Vera G; France B; Chansel M; Rouvet I; Revy P; Lopez B; Soulier J; Bertrand P; Callebaut I; de Villartay JP
    J Exp Med; 2016 May; 213(6):1011-28. PubMed ID: 27185855
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
    Järviaho T; Halt K; Hirvikoski P; Moilanen J; Möttönen M; Niinimäki R
    Clin Genet; 2018 Feb; 93(2):392-395. PubMed ID: 28815563
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ERCC6L2-associated inherited bone marrow failure syndrome.
    Shabanova I; Cohen E; Cada M; Vincent A; Cohn RD; Dror Y
    Mol Genet Genomic Med; 2018 May; 6(3):463-468. PubMed ID: 29633571
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic
    Tummala H; Dokal AD; Walne A; Ellison A; Cardoso S; Amirthasigamanipillai S; Kirwan M; Browne I; Sidhu JK; Rajeeve V; Rio-Machin A; Seraihi AA; Duncombe AS; Jenner M; Smith OP; Enright H; Norton A; Aksu T; Özbek NY; Pontikos N; Cutillas P; Dokal I; Vulliamy T
    Proc Natl Acad Sci U S A; 2018 Jul; 115(30):7777-7782. PubMed ID: 29987015
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
    Tummala H; Kirwan M; Walne AJ; Hossain U; Jackson N; Pondarre C; Plagnol V; Vulliamy T; Dokal I
    Am J Hum Genet; 2014 Feb; 94(2):246-56. PubMed ID: 24507776
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
    Le Guen T; Jullien L; Touzot F; Schertzer M; Gaillard L; Perderiset M; Carpentier W; Nitschke P; Picard C; Couillault G; Soulier J; Fischer A; Callebaut I; Jabado N; Londono-Vallejo A; de Villartay JP; Revy P
    Hum Mol Genet; 2013 Aug; 22(16):3239-49. PubMed ID: 23591994
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
    Deng Z; Glousker G; Molczan A; Fox AJ; Lamm N; Dheekollu J; Weizman OE; Schertzer M; Wang Z; Vladimirova O; Schug J; Aker M; Londoño-Vallejo A; Kaestner KH; Lieberman PM; Tzfati Y
    Proc Natl Acad Sci U S A; 2013 Sep; 110(36):E3408-16. PubMed ID: 23959892
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Compromised repair of radiation-induced DNA double-strand breaks in Fanconi anemia fibroblasts in G2.
    Zahnreich S; Weber B; Rösch G; Schindler D; Schmidberger H
    DNA Repair (Amst); 2020 Dec; 96():102992. PubMed ID: 33069004
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
    Berardinelli F; di Masi A; Salvatore M; Banerjee S; Myung K; De Villartay JP; Revy P; Plebani A; Soresina A; Taruscio D; Tanzarella C; Antoccia A
    Eur J Med Genet; 2007; 50(3):176-87. PubMed ID: 17395558
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.
    Sukumaran SK; Stumpf M; Salamon S; Ahmad I; Bhattacharya K; Fischer S; Müller R; Altmüller J; Budde B; Thiele H; Tariq M; Malik NA; Nürnberg P; Baig SM; Hussain MS; Noegel AA
    Mol Genet Genomics; 2017 Apr; 292(2):365-383. PubMed ID: 28004182
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.
    Mendez G; Cilli D; Berardinelli F; Viganotti M; Ascenzi P; Tanzarella C; Antoccia A; di Masi A
    IUBMB Life; 2012 Oct; 64(10):853-61. PubMed ID: 22941933
    [TBL] [Abstract][Full Text] [Related]  

  • 12. How Fanconi anemia proteins promote the four Rs: replication, recombination, repair, and recovery.
    Thompson LH; Hinz JM; Yamada NA; Jones NJ
    Environ Mol Mutagen; 2005; 45(2-3):128-42. PubMed ID: 15668941
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor
    Evrony GD; Cordero DR; Shen J; Partlow JN; Yu TW; Rodin RE; Hill RS; Coulter ME; Lam AN; Jayaraman D; Gerrelli D; Diaz DG; Santos C; Morrison V; Galli A; Tschulena U; Wiemann S; Martel MJ; Spooner B; Ryu SC; Elhosary PC; Richardson JM; Tierney D; Robinson CA; Chibbar R; Diudea D; Folkerth R; Wiebe S; Barkovich AJ; Mochida GH; Irvine J; Lemire EG; Blakley P; Walsh CA
    Genome Res; 2017 Aug; 27(8):1323-1335. PubMed ID: 28630177
    [TBL] [Abstract][Full Text] [Related]  

  • 14. XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
    Guo C; Nakazawa Y; Woodbine L; Björkman A; Shimada M; Fawcett H; Jia N; Ohyama K; Li TS; Nagayama Y; Mitsutake N; Pan-Hammarström Q; Gennery AR; Lehmann AR; Jeggo PA; Ogi T
    J Allergy Clin Immunol; 2015 Oct; 136(4):1007-17. PubMed ID: 26255102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
    Bluteau O; Sebert M; Leblanc T; Peffault de Latour R; Quentin S; Lainey E; Hernandez L; Dalle JH; Sicre de Fontbrune F; Lengline E; Itzykson R; Clappier E; Boissel N; Vasquez N; Da Costa M; Masliah-Planchon J; Cuccuini W; Raimbault A; De Jaegere L; Adès L; Fenaux P; Maury S; Schmitt C; Muller M; Domenech C; Blin N; Bruno B; Pellier I; Hunault M; Blanche S; Petit A; Leverger G; Michel G; Bertrand Y; Baruchel A; Socié G; Soulier J
    Blood; 2018 Feb; 131(7):717-732. PubMed ID: 29146883
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
    Shukla A; Das Bhowmik A; Hebbar M; Rajagopal KV; Girisha KM; Gupta N; Dalal A
    J Hum Genet; 2018 Jan; 63(1):19-25. PubMed ID: 29215095
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
    Bezzerri V; Api M; Allegri M; Fabrizzi B; Corey SJ; Cipolli M
    Int J Mol Sci; 2020 Jun; 21(13):. PubMed ID: 32630050
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
    Ben-Omran T; Fahiminiya S; Sorfazlian N; Almuriekhi M; Nawaz Z; Nadaf J; Khadija KA; Zaineddin S; Kamel H; Majewski J; Tropepe V
    J Med Genet; 2015 Jun; 52(6):381-90. PubMed ID: 25873735
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
    Lim BC; Yoo SK; Lee S; Shin JY; Hwang H; Chae JH; Hwang YS; Seo JS; Kim JI; Kim KJ
    Gene; 2014 Aug; 546(2):425-9. PubMed ID: 24914498
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Stable maintenance of the Mre11-Rad50-Nbs1 complex is sufficient to restore the DNA double-strand break response in cells lacking RecQL4 helicase activity.
    Kim H; Choi H; Im JS; Park SY; Shin G; Yoo JH; Kim G; Lee JK
    J Biol Chem; 2021 Oct; 297(4):101148. PubMed ID: 34473993
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.