Cargando…

Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia

Diamond-Blackfan Anemia (DBA) is an inherited rare disease characterized with severe pure red cell aplasia, and it is caused by the defective ribosome biogenesis stemming from the impairment of ribosomal proteins. Among all DBA-associated ribosomal proteins, RPS19 affects most patients and carries m...

Descripción completa

Detalles Bibliográficos
Autores principales:	An, Ke, Zhou, Jing-Bo, Xiong, Yao, Han, Wei, Wang, Tao, Ye, Zhi-Qiang, Wu, Yun-Dong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8181406/ https://www.ncbi.nlm.nih.gov/pubmed/34108988 http://dx.doi.org/10.3389/fgene.2021.650897

Ejemplares similares

Molecular basis of Diamond–Blackfan anemia: structure and function analysis of RPS19
por: Gregory, Lynn A., et al.
Publicado: (2007)

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
por: Cole, Sarah, et al.
Publicado: (2022)

Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia
por: Hiregange, Disha‐Gajanan, et al.
Publicado: (2022)

Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report
por: Yoo, Ye Seul, et al.
Publicado: (2019)

Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
por: Watkins-Chow, Dawn E., et al.
Publicado: (2013)

Targeted Resequencing and Analysis of the Diamond-Blackfan Anemia Disease Locus RPS19
por: Martinez Barrio, Alvaro, et al.
Publicado: (2009)

De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
por: Liu, Shan, et al.
Publicado: (2023)

Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical Phenotypes
por: Watkins-Chow, Dawn E., et al.
Publicado: (2015)

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
por: Shi, Xiaodong, et al.
Publicado: (2019)

Diamond–Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature
por: Jahan, Dilshad, et al.
Publicado: (2020)

Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency
por: Song, Binfeng, et al.
Publicado: (2014)

Defects of protein production in erythroid cells revealed in a zebrafish Diamond–Blackfan anemia model for mutation in RPS19
por: Zhang, Y, et al.
Publicado: (2014)

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature
por: Karaosmanoglu, Beren, et al.
Publicado: (2021)

Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation
por: Piantanida, Noemy, et al.
Publicado: (2022)

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia
por: Chae, Hyojin, et al.
Publicado: (2014)

Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network
por: Khan, Abbas, et al.
Publicado: (2018)

An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia
por: Da Costa, Lydie, et al.
Publicado: (2018)

Emerging Therapeutic Approaches for Diamond Blackfan Anemia
por: Aspesi, Anna, et al.
Publicado: (2018)

Shock in the Setting of Diamond-Blackfan Anemia Relapse
por: Haddaden, Metri, et al.
Publicado: (2021)

An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity
por: Bhoopalan, Senthil Velan, et al.
Publicado: (2023)

Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways
por: Jia, Qiong, et al.
Publicado: (2013)

Altered translation of GATA1 in Diamond-Blackfan anemia
por: Ludwig, Leif S., et al.
Publicado: (2014)

Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment
por: Engidaye, Getabalew, et al.
Publicado: (2019)

PSAT224 Endocrine Manifestations in Diamond Blackfan Anemia
por: Shah, Anvay, et al.
Publicado: (2022)

Animal models of Diamond-Blackfan anemia: updates and challenges
por: Liu, Y. Lucy, et al.
Publicado: (2022)

Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways
por: Jia, Qiong, et al.
Publicado: (2013)

Correction: Transcriptome Analysis of the Zebrafish Model of Diamond-Blackfan Anemia from RPS19 Deficiency via p53-Dependent and -Independent Pathways
por: Jia, Qiong, et al.
Publicado: (2013)

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
por: Errichiello, Edoardo, et al.
Publicado: (2017)

Oral and Dental Manifestations of Diamond-Blackfan Anemia: Case Reports
por: Ozden, Feyza Otan, et al.
Publicado: (2011)

Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia
por: Sjögren, Sara E., et al.
Publicado: (2012)

Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea
por: Kim, Soon-Ki, et al.
Publicado: (2012)

Diamond Blackfan Anemia: a Tertiary Care Center Experience
por: Singh, Avinash Kumar, et al.
Publicado: (2013)

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
por: Wilkes, M. C., et al.
Publicado: (2020)

Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
por: Chiabrando, Deborah, et al.
Publicado: (2010)

Successful Treatment of Refractory Diamond-Blackfan Anemia Using Metoclopramide and Prednisolone
por: Malbora, Barış, et al.
Publicado: (2012)

Diamond–Blackfan anemia RPL35A: a case report
por: Noel, Colin Byron
Publicado: (2019)

Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia
por: Kazerounian, Shideh, et al.
Publicado: (2019)

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
por: Wlodarski, Marcin W., et al.
Publicado: (2018)

Decoding the pathogenesis of Diamond–Blackfan anemia using single-cell RNA-seq
por: Wang, Bingrui, et al.
Publicado: (2022)

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia
por: Aspesi, Anna, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_n5g6fl8l613acbaopdqn52s7ou