Format
Sort by
Items per page

Send to

Choose Destination

Links from Gene

Items: 1 to 20 of 33

1.

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

Balcin H, Palmio J, Penttilä S, Nennesmo I, Lindfors M, Solders G, Udd B.

Neuromuscul Disord. 2017 Jul;27(7):627-630. doi: 10.1016/j.nmd.2017.04.006. Epub 2017 Apr 18.

PMID:
28478914
2.

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

Luo S, Cai S, Maxwell S, Yue D, Zhu W, Qiao K, Zhu Z, Zhou L, Xi J, Lu J, Beeson D, Zhao C.

Neuromuscul Disord. 2017 Jun;27(6):557-564. doi: 10.1016/j.nmd.2017.03.004. Epub 2017 Mar 10.

PMID:
28433477
3.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz PM, Belaya K, Basiri K, Sedghi M, Farrugia ME, Holton JL, Liu WW, Maxwell S, Petty R, Walls TJ, Kennett R, Pitt M, Sarkozy A, Parton M, Lochmüller H, Muntoni F, Palace J, Beeson D.

J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):802-9. doi: 10.1136/jnnp-2016-313163. Epub 2016 May 4.

4.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D.

Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30.

5.

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG.

Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12.

PMID:
25681410
6.

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.

Raphael AR, Couthouis J, Sakamuri S, Siskind C, Vogel H, Day JW, Gitler AD.

Brain Res. 2014 Aug 5;1575:66-71. doi: 10.1016/j.brainres.2014.04.028. Epub 2014 Apr 26.

7.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD.

Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23.

9.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.

10.

Alivin 1, a novel neuronal activity-dependent gene, inhibits apoptosis and promotes survival of cerebellar granule neurons.

Ono T, Sekino-Suzuki N, Kikkawa Y, Yonekawa H, Kawashima S.

J Neurosci. 2003 Jul 2;23(13):5887-96.

11.

Association analysis of 3p21 with Crohn's disease in a New Zealand population.

Morgan AR, Han DY, Lam WJ, Fraser AG, Ferguson LR.

Hum Immunol. 2010 Jun;71(6):602-9. doi: 10.1016/j.humimm.2010.03.003. Epub 2010 Apr 8.

PMID:
20307617
12.

Congenital Myasthenic Syndromes.

Abicht A, Müller J S, Lochmüller H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 May 9 [updated 2016 Jul 14].

13.

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Colombel JF, Denson LA, De Vos M, Dubinsky M, Edwards C, Ellinghaus D, Fehrmann RS, Floyd JA, Florin T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery SL, Haritunians T, Hayward NK, Hugot JP, Jobin G, Laukens D, Lawrance I, Lémann M, Levine A, Libioulle C, Louis E, McGovern DP, Milla M, Montgomery GW, Morley KI, Mowat C, Ng A, Newman W, Ophoff RA, Papi L, Palmieri O, Peyrin-Biroulet L, Panés J, Phillips A, Prescott NJ, Proctor DD, Roberts R, Russell R, Rutgeerts P, Sanderson J, Sans M, Schumm P, Seibold F, Sharma Y, Simms LA, Seielstad M, Steinhart AH, Targan SR, van den Berg LH, Vatn M, Verspaget H, Walters T, Wijmenga C, Wilson DC, Westra HJ, Xavier RJ, Zhao ZZ, Ponsioen CY, Andersen V, Torkvist L, Gazouli M, Anagnou NP, Karlsen TH, Kupcinskas L, Sventoraityte J, Mansfield JC, Kugathasan S, Silverberg MS, Halfvarson J, Rotter JI, Mathew CG, Griffiths AM, Gearry R, Ahmad T, Brant SR, Chamaillard M, Satsangi J, Cho JH, Schreiber S, Daly MJ, Barrett JC, Parkes M, Annese V, Hakonarson H, Radford-Smith G, Duerr RH, Vermeire S, Weersma RK, Rioux JD.

Nat Genet. 2011 Mar;43(3):246-52. doi: 10.1038/ng.764. Epub 2011 Feb 6. Erratum in: Nat Genet. 2011 Sep;43(9):919.

14.
15.

A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene.

Luo J, Emanuele MJ, Li D, Creighton CJ, Schlabach MR, Westbrook TF, Wong KK, Elledge SJ.

Cell. 2009 May 29;137(5):835-48. doi: 10.1016/j.cell.2009.05.006.

16.

Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ.

PLoS One. 2010 Sep 21;5(9):e12862. doi: 10.1371/journal.pone.0012862.

17.

Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family.

Li X, Tran KM, Aziz KE, Sorokin AV, Chen J, Wang W.

Mol Cell Proteomics. 2016 Sep;15(9):3030-44. doi: 10.1074/mcp.M116.060277. Epub 2016 Jul 18.

18.

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A.

Genome Res. 2003 Oct;13(10):2265-70. Epub 2003 Sep 15. Erratum in: Genome Res. 2003 Dec;13(12):2759.

19.

Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers.

Rosenbluh J, Mercer J, Shrestha Y, Oliver R, Tamayo P, Doench JG, Tirosh I, Piccioni F, Hartenian E, Horn H, Fagbami L, Root DE, Jaffe J, Lage K, Boehm JS, Hahn WC.

Cell Syst. 2016 Sep 28;3(3):302-316.e4. doi: 10.1016/j.cels.2016.09.001.

20.

A high-throughput approach for measuring temporal changes in the interactome.

Kristensen AR, Gsponer J, Foster LJ.

Nat Methods. 2012 Sep;9(9):907-9. doi: 10.1038/nmeth.2131. Epub 2012 Aug 5.

Supplemental Content

Support Center