Literature DB >> 21414820

Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.

Radek Cmejla, Barbora Ludikova, Martina Sukova, Jan Blatny, Dagmar Pospisilova.   

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Year:  2011        PMID： 21414820     DOI： 10.1016/j.bcmd.2011.02.003

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


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  4 in total

1.  Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation.

Authors:  Leonardo Murgiano; Vera Shirokova; Monika Maria Welle; Vidhya Jagannathan; Philippe Plattet; Anna Oevermann; Aldona Pienkowska-Schelling; Daniele Gallo; Arcangelo Gentile; Marja Mikkola; Cord Drögemüller
Journal:  PLoS Genet       Date:  2015-07-23       Impact factor: 5.917

2.  A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly.

Authors:  Sabina Schütz; Ute Fischer; Martin Altvater; Purnima Nerurkar; Cohue Peña; Michaela Gerber; Yiming Chang; Stefanie Caesar; Olga T Schubert; Gabriel Schlenstedt; Vikram G Panse
Journal:  Elife       Date:  2014-08-21       Impact factor: 8.140

3.  A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.

Authors:  Domenico Roberti; Renata Conforti; Teresa Giugliano; Barbara Brogna; Immacolata Tartaglione; Maddalena Casale; Giulio Piluso; Silverio Perrotta
Journal:  Front Genet       Date:  2018-11-19       Impact factor: 4.599

4.  Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient.

Authors:  Xiaodong Shi; Xiaolan Huang; Yu Zhang; Xiaodai Cui
Journal:  BMC Med Genet       Date:  2019-07-05       Impact factor: 2.103
  4 in total

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