Hoefele(Julia),Bertrand(Anne-Marie),Stehr(... Pediatr Nephrol 2010-08-26

...RPL35a, RPL36, RPL11, and RPL5, have also been found in patients with DBA. Approximately 30-40% of affected patients hav...

Avondo(Federica),Roncaglia(Paola),Crescenz... BMC Genomics 2009-10-30

...RPL35A. Studies in haematopoietic progenitors from patients show that haplo-insufficiency of an RP impairs rRNA processi...

Badhai(Jitendra),Fröjmark(Anne-Sophie),J D... Biochim Biophys Acta 2009-11-25

...RPL35a. We show herein that primary fibroblasts from DBA patients with truncating mutations in RPS19 or in RPS24 have a ...

Liu(Yu),Chang(Amy) Genetics 2009-05-27

...Rpl35a. We propose that changes in ribosome biogenesis caused by loss of Yvh1 or specific ribosomal proteins have effect...

Gazda(Hanna T),Sheen(Mee Rie),Vlachos(Adri... Am J Hum Genet 2009-01-06

...RPL35A, in about 30% of patients. However, the genetic basis of the remaining 70% of cases is still unknown. Here, we re...

Cmejla(Radek),Cmejlova(Jana),Handrkova(Hel... Hum Mutat 2009-05-28

...RPL35a of the large ribosomal subunit have also been reported in several DBA patients. Here, we present the identificati...

Robledo(Sara),Idol(Rachel A),Crimmins(Dan ... RNA 2008-09-09

...RPL35a) and studied the effect on rRNA processing and ribosome production. Depleting r-proteins in one of the subunits c...

Campagnoli(Maria Francesca),Ramenghi(Ugo),... Hum Mutat 2008-08-28

...RPL35A, RPL11, and RPL5 are rare. These genes encode for structural proteins of the ribosome. A link between ribosomal f...

Farrar(Jason E),Nater(Michelle),Caywood(Em... Blood 2008-09-30

...RPL35A as a potential DBA gene. Sequence analysis of a cohort of DBA probands confirmed involvement RPL35A in DBA. shRNA...

Uechi(Tamayo),Nakajima(Yukari),Chakraborty... Hum Mol Genet 2008-11-12

...rpl35a and rplp2, produced similar phenotypes, suggesting that these genes might have a common function in zebrafish ery...