Condition: Anemia, Diamond-Blackfan


rs1558284033 in DIPK1A;RPL5 gene and Anemia, Diamond-Blackfan PMID 19773262 2010 Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

PMID 19061985 2008 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

PMID 23718193 2013 Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

rs1557020001 in GATA1 gene and Anemia, Diamond-Blackfan PMID 24255919 2014 PML4 facilitates erythroid differentiation by enhancing the transcriptional activity of GATA-1.

PMID 15920471 2005 GATA-1 forms distinct activating and repressive complexes in erythroid cells.

PMID 23704091 2013 Analysis of disease-causing GATA1 mutations in murine gene complementation systems.

PMID 8628290 1996 A palindromic regulatory site within vertebrate GATA-1 promoters requires both zinc fingers of the GATA-1 DNA-binding domain for high-affinity interaction.

PMID 16095949 2006 GATA-1: one protein, many partners.

PMID 11566888 2001 In vivo requirements for GATA-1 functional domains during primitive and definitive erythropoiesis.

PMID 16783379 2006 An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis.

PMID 24453067 2014 Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

PMID 22706301 2012 Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

rs869066130 in MIR6797;RPS19 gene and Anemia, Diamond-Blackfan PMID 15059149 2004 Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 25946618 2015 Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 15075082 2004 Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.

rs121434389 in RPL11 gene and Anemia, Diamond-Blackfan PMID 19061985 2008 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

PMID 19773262 2010 Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

rs104894189 in RPS24 gene and Anemia, Diamond-Blackfan PMID 17186470 2006 Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

PMID 19689926 2009 Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.