PPARG: gene expression regulation and next‐generation sequencing for unsolved issues
Peroxisome proliferator‐activated receptor gamma (PPARγ) is one of the most extensively
studied ligand‐inducible transcription factors (TFs), able to modulate its transcriptional …
studied ligand‐inducible transcription factors (TFs), able to modulate its transcriptional …
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia
Diamond Blackfan anemia (DBA) is a lineage-selective inherited bone marrow failure
syndrome characterized primarily by anemia and physical malformations. Recent advances …
syndrome characterized primarily by anemia and physical malformations. Recent advances …
Ribosome heterogeneity in Drosophila melanogaster gonads through paralog-switching
Ribosomes have long been thought of as homogeneous macromolecular machines, but
recent evidence suggests they are heterogeneous and could be specialised to regulate …
recent evidence suggests they are heterogeneous and could be specialised to regulate …
Identification of rare alleles and their carriers using compressed se (que) nsing
Identification of rare variants by resequencing is important both for detecting novel variations
and for screening individuals for known disease alleles. New technologies enable low-cost …
and for screening individuals for known disease alleles. New technologies enable low-cost …
GATA1 and PU. 1 bind to ribosomal protein genes in erythroid cells: implications for ribosomopathies
EP Amanatiadou, GL Papadopoulos, J Strouboulis… - PLoS …, 2015 - journals.plos.org
The clear connection between ribosome biogenesis dysfunction and specific hematopoiesis-
related disorders prompted us to examine the role of critical lineage-specific transcription …
related disorders prompted us to examine the role of critical lineage-specific transcription …
5′ UTR variants of ribosomal protein S19 transcript determine translational efficiency: Implications for Diamond-Blackfan anemia and tissue variability
Background Diamond-Blackfan anemia (DBA) is a lineage specific and congenital
erythroblastopenia. The disease is associated with mutations in genes encoding ribosomal …
erythroblastopenia. The disease is associated with mutations in genes encoding ribosomal …
[HTML][HTML] Polymorphism located in the upstream region of the RPS19 gene (rs2305809) is associated with cervical cancer: a case-control study
Cervical cancer (CC) is caused by persistent human papillomavirus (HPV) infection and
affects women worldwide. The progression of an HPV persistent infection to CC is …
affects women worldwide. The progression of an HPV persistent infection to CC is …
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia
Heterozygous mutations in the ribosomal protein S19 (RPS19) gene are associated with
Diamond-Blackfan anemia (DBA). The mechanism by which RPS19 mediates anemia are …
Diamond-Blackfan anemia (DBA). The mechanism by which RPS19 mediates anemia are …
Positional Information Resolves Structural Variations and Uncovers an Evolutionarily Divergent Genetic Locus in Accessions of Arabidopsis thaliana
AG Lai, M Denton-Giles… - Genome Biology and …, 2011 - academic.oup.com
Genome sequencing of closely related individuals has yielded valuable insights that link
genome evolution to phenotypic variations. However, advancement in sequencing …
genome evolution to phenotypic variations. However, advancement in sequencing …
Exploring the Genetic Mechanisms Underlying Diamond-Blackfan Anemia
YJ Shim - Journal of Interdisciplinary Genomics, 2024 - koreascience.kr
Abstract Diamond-Blackfan Anemia (DBA) is a rare congenital bone marrow failure
syndrome primarily characterized by erythroblastopenia and macrocytic anemia. This …
syndrome primarily characterized by erythroblastopenia and macrocytic anemia. This …