Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
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Ribosomopathies: how a common root can cause a tree of pathologiesThe inherited bone marrow failure syndromesThe emerging roles of ribosome biogenesis in craniofacial developmentAnemia: progress in molecular mechanisms and therapiesRegulatory Roles of Rpl22 in Hematopoiesis: An Old Dog with New TricksDelayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndromeFunctional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO MutationThe genomics of inherited bone marrow failure: from mechanism to the clinic.Genomic characterization of the inherited bone marrow failure syndromes.Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiencyNucleolar stress with and without p53.Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency.Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implicationsRibosomal proteins: functions beyond the ribosomeDiamond Blackfan anemia: a Cheshire cat of hematology.Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosisAn overview of pre-ribosomal RNA processing in eukaryotesClinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotypeDownregulation of RPL15 may predict poor survival and associate with tumor progression in pancreatic ductal adenocarcinoma.A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan AnemiaGlucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia.Current insights into inherited bone marrow failure syndromesThe clinical impact of copy number variants in inherited bone marrow failure syndromes.Molecular convergence in ex vivo models of Diamond-Blackfan anemia.Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.Disruption of the 5S RNP-Mdm2 interaction significantly improves the erythroid defect in a mouse model for Diamond-Blackfan anemia.Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemiaIn Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.How Ribosomes Translate Cancer.Rare heterozygous truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population.Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in
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P2860
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Novel deletion of RPL15 identi ...... on in Diamond-Blackfan anemia.
@en
type
label
Novel deletion of RPL15 identi ...... on in Diamond-Blackfan anemia.
@en
prefLabel
Novel deletion of RPL15 identi ...... on in Diamond-Blackfan anemia.
@en
P2093
P2860
P50
P1433
P1476
Novel deletion of RPL15 identi ...... on in Diamond-Blackfan anemia.
@en
P2093
Adrianna Vlachos
Bertil Glader
Christopher Buros
Colin A Sieff
Eva Atsidaftos
Hanna T Gazda
Jeffrey M Lipton
Marie-Françoise O'Donohue
Michael Landowski
Michal Matysiak
P2860
P2888
P304
P356
10.1007/S00439-013-1326-Z
P577
2013-06-30T00:00:00Z
P5875
P6179
1039461373