BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 23727838)

  • 1. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
    Stottmann RW; Donlin M; Hafner A; Bernard A; Sinclair DA; Beier DR
    Hum Mol Genet; 2013 Oct; 22(20):4053-63. PubMed ID: 23727838
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
    Cushion TD; Dobyns WB; Mullins JG; Stoodley N; Chung SK; Fry AE; Hehr U; Gunny R; Aylsworth AS; Prabhakar P; Uyanik G; Rankin J; Rees MI; Pilz DT
    Brain; 2013 Feb; 136(Pt 2):536-48. PubMed ID: 23361065
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
    Jaglin XH; Poirier K; Saillour Y; Buhler E; Tian G; Bahi-Buisson N; Fallet-Bianco C; Phan-Dinh-Tuy F; Kong XP; Bomont P; Castelnau-Ptakhine L; Odent S; Loget P; Kossorotoff M; Snoeck I; Plessis G; Parent P; Beldjord C; Cardoso C; Represa A; Flint J; Keays DA; Cowan NJ; Chelly J
    Nat Genet; 2009 Jun; 41(6):746-52. PubMed ID: 19465910
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
    Cederquist GY; Luchniak A; Tischfield MA; Peeva M; Song Y; Menezes MP; Chan WM; Andrews C; Chew S; Jamieson RV; Gomes L; Flaherty M; Grant PE; Gupta ML; Engle EC
    Hum Mol Genet; 2012 Dec; 21(26):5484-99. PubMed ID: 23001566
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
    Guerrini R; Mei D; Cordelli DM; Pucatti D; Franzoni E; Parrini E
    Eur J Hum Genet; 2012 Sep; 20(9):995-8. PubMed ID: 22333901
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
    Romaniello R; Tonelli A; Arrigoni F; Baschirotto C; Triulzi F; Bresolin N; Bassi MT; Borgatti R
    Dev Med Child Neurol; 2012 Aug; 54(8):765-9. PubMed ID: 22591407
    [TBL] [Abstract][Full Text] [Related]  

  • 7. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
    Jansen AC; Oostra A; Desprechins B; De Vlaeminck Y; Verhelst H; Régal L; Verloo P; Bockaert N; Keymolen K; Seneca S; De Meirleir L; Lissens W
    Neurology; 2011 Mar; 76(11):988-92. PubMed ID: 21403111
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Tubulin genes and malformations of cortical development.
    Romaniello R; Arrigoni F; Fry AE; Bassi MT; Rees MI; Borgatti R; Pilz DT; Cushion TD
    Eur J Med Genet; 2018 Dec; 61(12):744-754. PubMed ID: 30016746
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
    Poirier K; Saillour Y; Bahi-Buisson N; Jaglin XH; Fallet-Bianco C; Nabbout R; Castelnau-Ptakhine L; Roubertie A; Attie-Bitach T; Desguerre I; Genevieve D; Barnerias C; Keren B; Lebrun N; Boddaert N; Encha-Razavi F; Chelly J
    Hum Mol Genet; 2010 Nov; 19(22):4462-73. PubMed ID: 20829227
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
    Saillour Y; Broix L; Bruel-Jungerman E; Lebrun N; Muraca G; Rucci J; Poirier K; Belvindrah R; Francis F; Chelly J
    Hum Mol Genet; 2014 Mar; 23(6):1516-26. PubMed ID: 24179174
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
    Breuss MW; Nguyen T; Srivatsan A; Leca I; Tian G; Fritz T; Hansen AH; Musaev D; McEvoy-Venneri J; James KN; Rosti RO; Scott E; Tan U; Kolodner RD; Cowan NJ; Keays DA; Gleeson JG
    Hum Mol Genet; 2017 Jan; 26(2):258-269. PubMed ID: 28013290
    [TBL] [Abstract][Full Text] [Related]  

  • 12. TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
    Ivanova EL; Gilet JG; Sulimenko V; Duchon A; Rudolf G; Runge K; Collins SC; Asselin L; Broix L; Drouot N; Tilly P; Nusbaum P; Vincent A; Magnant W; Skory V; Birling MC; Pavlovic G; Godin JD; Yalcin B; Hérault Y; Dráber P; Chelly J; Hinckelmann MV
    Nat Commun; 2019 May; 10(1):2129. PubMed ID: 31086189
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
    Tian G; Jaglin XH; Keays DA; Francis F; Chelly J; Cowan NJ
    Hum Mol Genet; 2010 Sep; 19(18):3599-613. PubMed ID: 20603323
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
    Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C; Lascelles K; Souville I; ; Beldjord C; Chelly J
    Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Differential requirements of tubulin genes in mammalian forebrain development.
    Bittermann E; Abdelhamed Z; Liegel RP; Menke C; Timms A; Beier DR; Stottmann RW
    PLoS Genet; 2019 Aug; 15(8):e1008243. PubMed ID: 31386652
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
    Fallet-Bianco C; Laquerrière A; Poirier K; Razavi F; Guimiot F; Dias P; Loeuillet L; Lascelles K; Beldjord C; Carion N; Toussaint A; Revencu N; Addor MC; Lhermitte B; Gonzales M; Martinovich J; Bessieres B; Marcy-Bonnière M; Jossic F; Marcorelles P; Loget P; Chelly J; Bahi-Buisson N
    Acta Neuropathol Commun; 2014 Jul; 2():69. PubMed ID: 25059107
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
    Amrom D; Tanyalçin I; Verhelst H; Deconinck N; Brouhard GJ; Décarie JC; Vanderhasselt T; Das S; Hamdan FF; Lissens W; Michaud JL; Jansen AC
    Clin Genet; 2014 Feb; 85(2):178-83. PubMed ID: 23495813
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization.
    Stottmann RW; Driver A; Gutierrez A; Skelton MR; Muntifering M; Stepien C; Knudson L; Kofron M; Vorhees CV; Williams MT
    Genes Brain Behav; 2017 Feb; 16(2):250-259. PubMed ID: 27594048
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
    Cushion TD; Paciorkowski AR; Pilz DT; Mullins JG; Seltzer LE; Marion RW; Tuttle E; Ghoneim D; Christian SL; Chung SK; Rees MI; Dobyns WB
    Am J Hum Genet; 2014 Apr; 94(4):634-41. PubMed ID: 24702957
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
    Abdollahi MR; Morrison E; Sirey T; Molnar Z; Hayward BE; Carr IM; Springell K; Woods CG; Ahmed M; Hattingh L; Corry P; Pilz DT; Stoodley N; Crow Y; Taylor GR; Bonthron DT; Sheridan E
    Am J Hum Genet; 2009 Nov; 85(5):737-44. PubMed ID: 19896110
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.