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Items: 1 to 20 of 73

1.

5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.

Badhai J, Schuster J, Gidlöf O, Dahl N.

PLoS One. 2011 Mar 11;6(3):e17672. doi: 10.1371/journal.pone.0017672.

2.

Genome-wide allele-specific analysis: insights into regulatory variation.

Pastinen T.

Nat Rev Genet. 2010 Aug;11(8):533-8. doi: 10.1038/nrg2815. Epub 2010 Jun 22. Review.

PMID:
20567245
3.

The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis.

Lopes AM, Miguel RN, Sargent CA, Ellis PJ, Amorim A, Affara NA.

BMC Mol Biol. 2010 May 7;11:33. doi: 10.1186/1471-2199-11-33.

4.

Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia.

Schuster J, Fröjmark AS, Nilsson P, Badhai J, Virtanen A, Dahl N.

Blood Cells Mol Dis. 2010 Jun 15;45(1):23-8. doi: 10.1016/j.bcmd.2010.03.007. Epub 2010 Apr 14.

5.

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.

Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, Ohga S, Hara T, Hama A, Kojima S, Hasegawa D, Kosaka Y, Yanagisawa R, Koike K, Kanai R, Imai T, Hongo T, Park MJ, Sugita K, Ito E.

Haematologica. 2010 Aug;95(8):1293-9. doi: 10.3324/haematol.2009.020826. Epub 2010 Apr 7.

6.

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

Hoefele J, Bertrand AM, Stehr M, Leblanc T, Tchernia G, Simansour M, Mignot B, Alberer M, Schwarz HP, Da Costa L; SHIP.

Pediatr Nephrol. 2010 Jul;25(7):1255-61. doi: 10.1007/s00467-010-1497-y. Epub 2010 Apr 1.

PMID:
20358230
7.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655.

8.

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity.

Crétien A, Proust A, Delaunay J, Rincé P, Leblanc T, Ducrocq R, Simansour M, Marie I, Tamary H, Meerpohl J, Niemeyer C, Gazda H, Sieff C, Ball S, Tchernia G, Mohandas N, Da Costa L.

Am J Hematol. 2010 Feb;85(2):111-6. doi: 10.1002/ajh.21601.

9.

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.

Song MJ, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH.

Pediatr Blood Cancer. 2010 Apr;54(4):629-31. doi: 10.1002/pbc.22316.

PMID:
19953637
10.

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U.

Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.

11.

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.

Badhai J, Fröjmark AS, J Davey E, Schuster J, Dahl N.

Biochim Biophys Acta. 2009 Oct;1792(10):1036-42. doi: 10.1016/j.bbadis.2009.08.002. Epub 2009 Aug 16.

12.

Genetic predisposition to human disease: allele-specific expression and low-penetrance regulatory loci.

de la Chapelle A.

Oncogene. 2009 Sep 24;28(38):3345-8. doi: 10.1038/onc.2009.194. Epub 2009 Jul 13. Review.

13.

Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.

Martinez Barrio A, Eriksson O, Badhai J, Fröjmark AS, Bongcam-Rudloff E, Dahl N, Schuster J.

PLoS One. 2009 Jul 9;4(7):e6172. doi: 10.1371/journal.pone.0006172.

14.

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.

Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D.

Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874.

PMID:
19191325
15.

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.

16.

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.

Quarello P, Garelli E, Brusco A, Carando A, Pappi P, Barberis M, Coletti V, Campagnoli MF, Dianzani I, Ramenghi U.

Haematologica. 2008 Nov;93(11):1748-50. doi: 10.3324/haematol.13423. Epub 2008 Oct 2. No abstract available.

17.

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Boria I, Quarello P, Avondo F, Garelli E, Aspesi A, Carando A, Campagnoli MF, Dianzani I, Ramenghi U.

Hum Mutat. 2008 Nov;29(11):E263-70. doi: 10.1002/humu.20864.

PMID:
18781615
18.

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.

Crétien A, Hurtaud C, Moniz H, Proust A, Marie I, Wagner-Ballon O, Choesmel V, Gleizes PE, Leblanc T, Delaunay J, Tchernia G, Mohandas N, Da Costa L.

Haematologica. 2008 Nov;93(11):1627-34. doi: 10.3324/haematol.13023. Epub 2008 Sep 2.

19.

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference.

Br J Haematol. 2008 Sep;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30.

20.

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

McGowan KA, Li JZ, Park CY, Beaudry V, Tabor HK, Sabnis AJ, Zhang W, Fuchs H, de Angelis MH, Myers RM, Attardi LD, Barsh GS.

Nat Genet. 2008 Aug;40(8):963-70. doi: 10.1038/ng.188. Epub 2008 Jul 20.

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