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Items: 1 to 20 of 99

1.

An investigation of ribosomal protein L10 gene in autism spectrum disorders.

Gong X, Delorme R, Fauchereau F, Durand CM, Chaste P, Betancur C, Goubran-Botros H, Nygren G, Anckarsäter H, Rastam M, Gillberg IC, Kopp S, Mouren-Simeoni MC, Gillberg C, Leboyer M, Bourgeron T.

BMC Med Genet. 2009 Jan 23;10:7. doi: 10.1186/1471-2350-10-7.

2.

Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.

Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I, Wellenreuther R, Schmötzer G, Poustka F, Breitenbach-Koller L, Poustka A.

Mol Psychiatry. 2006 Dec;11(12):1073-84. Epub 2006 Aug 29.

PMID:
16940977
3.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
4.

Protein signatures of oxidative stress response in a patient specific cell line model for autism.

Chiocchetti AG, Haslinger D, Boesch M, Karl T, Wiemann S, Freitag CM, Poustka F, Scheibe B, Bauer JW, Hintner H, Breitenbach M, Kellermann J, Lottspeich F, Klauck SM, Breitenbach-Koller L.

Mol Autism. 2014 Feb 10;5(1):10. doi: 10.1186/2040-2392-5-10.

5.

Mutational analysis of the ribosomal protein Rpl10 from yeast.

Hofer A, Bussiere C, Johnson AW.

J Biol Chem. 2007 Nov 9;282(45):32630-9. Epub 2007 Aug 30.

6.

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH.

Hum Mol Genet. 2007 Jul 15;16(14):1682-98. Epub 2007 May 21.

PMID:
17519220
7.

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.

Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L.

Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14.

PMID:
26290468
8.

Novel de novo SHANK3 mutation in autistic patients.

Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822.

PMID:
18615476
9.

Functional interaction in establishment of ribosomal integrity between small subunit protein rpS6 and translational regulator rpL10/Grc5p.

Pachler K, Karl T, Kolmann K, Mehlmer N, Eder M, Loeffler M, Oender K, Hochleitner EO, Lottspeich F, Bresgen N, Richter K, Breitenbach M, Koller L.

FEMS Yeast Res. 2004 Dec;5(3):271-80.

10.

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.

Chiocchetti A, Pakalapati G, Duketis E, Wiemann S, Poustka A, Poustka F, Klauck SM.

Am J Med Genet A. 2011 Jun;155A(6):1472-5. doi: 10.1002/ajmg.a.33977. Epub 2011 May 12. No abstract available.

PMID:
21567917
11.

Mutations in the gene encoding CADM1 are associated with autism spectrum disorder.

Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY.

Biochem Biophys Res Commun. 2008 Dec 19;377(3):926-9. doi: 10.1016/j.bbrc.2008.10.107. Epub 2008 Oct 26.

PMID:
18957284
12.

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE.

Genetics. 2014 Oct;198(2):723-33. doi: 10.1534/genetics.114.168211.

13.

HTR1B and HTR2C in autism spectrum disorders in Brazilian families.

Orabona GM, Griesi-Oliveira K, Vadasz E, Bulcão VL, Takahashi VN, Moreira ES, Furia-Silva M, Ros-Melo AM, Dourado F, Matioli SR, Otto P, Passos-Bueno MR.

Brain Res. 2009 Jan 23;1250:14-9. doi: 10.1016/j.brainres.2008.11.007. Epub 2008 Nov 12. Erratum in: Brain Res. 2009 Apr 6;1264:127. Matioli, R [corrected to Matioli, SR].

PMID:
19038234
14.

Contribution of SHANK3 mutations to autism spectrum disorder.

Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW.

Am J Hum Genet. 2007 Dec;81(6):1289-97. Epub 2007 Oct 16.

15.

Epigenetics of autism spectrum disorders.

Schanen NC.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R138-50. Review.

PMID:
16987877
16.

Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization.

Cho SC, Yim SH, Yoo HK, Kim MY, Jung GY, Shin GW, Kim BN, Hwang JW, Kang JJ, Kim TM, Chung YJ.

Psychiatr Genet. 2009 Aug;19(4):177-85. doi: 10.1097/YPG.0b013e32832bdafa.

PMID:
19407672
17.

The ribosomal protein L10/QM-like protein is a component of the NIK-mediated antiviral signaling.

Rocha CS, Santos AA, Machado JP, Fontes EP.

Virology. 2008 Oct 25;380(2):165-9. doi: 10.1016/j.virol.2008.08.005. Epub 2008 Sep 11.

18.

External suppression causes the low expression of the Cosmc gene in IgA nephropathy.

Qin W, Zhong X, Fan JM, Zhang YJ, Liu XR, Ma XY.

Nephrol Dial Transplant. 2008 May;23(5):1608-14. doi: 10.1093/ndt/gfm781. Epub 2008 Jan 17.

PMID:
18202089
19.

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.

Buxbaum JD, Cai G, Nygren G, Chaste P, Delorme R, Goldsmith J, Råstam M, Silverman JM, Hollander E, Gillberg C, Leboyer M, Betancur C.

BMC Med Genet. 2007 Nov 14;8:68.

20.

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

Biol Psychiatry. 2009 Aug 15;66(4):349-59. doi: 10.1016/j.biopsych.2009.01.025. Epub 2009 Mar 17.

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