연구동향 분석

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia

채효진 이재욱 김명신 정낙균 조빈 김용구 정대철 이승옥 박준홍 김지연 김정록 박건 2014년

논문상세정보
인용/피인용
' Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • 생물학
  • array-cgh
  • diamond-blackfananemia
  • ribosomalprotein
  • sequencing
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
495 0

0.0%

' Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia' 의 참고문헌

  • Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia
    Matsson H Hum Genet 105 496-500 [1999]
  • The ribosomal basis of Diamond-Blackfan Anemia : mutation and database update
    Boria I Hum Mutat 31 1269-1279 [2010]
  • The Diamond Blackfan Anemia Registry : tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
    lachos A J Pediatr Hematol Oncol 23 377-382 [2001]
  • Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene
    Proust A Hematol J 4 132-136 [2003]
  • Signaling to p53 : ribosomal proteins find their way
    Zhang Y Cancer Cell 16 369-377 [2009]
  • Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
    Doherty L Am J Hum Genet 86 222-228 [2010]
  • Ribosomal protein gene deletions in Diamond-Blackfan anemia
    Farrar JE Blood 118 6943-6951 [2011]
  • Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family
    Danilova N Blood 112 5228-5237 [2008]
  • Ribosomal protein S17 gene(RPS17)is mutated in Diamond-Blackfan anemia
    Cmejla R Hum Mutat 28 1178-1182 [2007]
  • RPS19 mutations in patients with Diamond-Blackfan anemia
    Campagnoli MF Hum Mutat 29 911-920 [2008]
  • RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
    Gazda HT Br J Haematol 127 105-113 [2004]
  • Nathan and Oski’s hematology of infancy and childhood
    Bessler M 351-360 [2008]
  • Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia
    Konno Y Haematologica 95 1293-1299 [2010]
  • Mutation nomenclature extensions and suggestions to describe complex mutations : a discussion
    den Dunnen JT Hum Mutat 15 7-12 [2000]
  • Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia
    Horos R Br J Haematol 159 514-527 [2012]
  • Molecular basis of Diamond-Blackfan anemia : structure and function analysis of RPS19
    Gregory LA Nucleic Acids Res 35 5913-5921 [2007]
  • Molecular basis of Diamond-Blackfan anemia : new findings from the Italian registry and a review of the literature
    Campagnoli MF Haematologica 89 480-489 [2004]
  • Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d’Hematologie et d’Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI)
    Willig TN Pediatr Res 46 553-561 [1999]
  • Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
    Dutt S Blood 117 2567-2576 [2011]
  • Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia
    Hamaguchi I Blood 15 2724-3271 [2002]
  • Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
    Gazda HT Hum Mutat 33 1037-1044 [2012]
  • Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia
    Kuramitsu M Blood 119 2376-2384 [2012]
  • Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients
    채효진 Annals of Laboratory Medicine 30 3 249-254 [2010]
  • Diamond Blackfan anaemia in the UK : clinical and genetic heterogeneity
    Orfali KA Br J Haematol 125 243-252 [2004]
  • Diagnosing and treating Diamond Blackfan anaemia : results of an international clinical consensus conference
    Vlachos A Br J Haematol 142 859-876 [2008]
  • A novel initiation codon mutation in the ribosomal protein S17 gene(RPS17)in a patient with Diamond-Blackfan anemia
    Song MJ Pediatr Blood Cancer 54 629-631 [2010]