Cargando…

Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia

Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disorders known as ribosomopathies. Most cases result from loss of function mutations or deletions in 1 of 23 genes encoding either a small or large subunit-associated ribosomal protein...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lipton, Jeffrey M., Molmenti, Christine L. S., Desai, Pooja, Lipton, Alexander, Ellis, Steven R., Vlachos, Adrianna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774389/ https://www.ncbi.nlm.nih.gov/pubmed/35052397 http://dx.doi.org/10.3390/genes13010056

Ejemplares similares

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
por: Aspesi, Anna, et al.
Publicado: (2018)

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

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

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

Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A
por: Gianferante, D. Matthew, et al.
Publicado: (2020)

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
por: Vlachos, Adrianna, et al.
Publicado: (2008)

p53-Independent Cell Cycle and Erythroid Differentiation Defects in Murine Embryonic Stem Cells Haploinsufficient for Diamond Blackfan Anemia-Proteins: RPS19 versus RPL5
por: Singh, Sharon A., et al.
Publicado: (2014)

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)

Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report
por: Mars-Holt, Evida, et al.
Publicado: (2022)

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)

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

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)

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

A Review of Diamond-Blackfan Anemia: Current Evidence on Involved Genes and Treatment Modalities
por: Tyagi, Anshika, 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)

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

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

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia
por: Danilova, Nadia, et al.
Publicado: (2014)

Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia
por: Zhang, Zhaojun, et al.
Publicado: (2014)

Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia
por: Danilova, Nadia, et al.
Publicado: (2018)

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

Hemin Augments Growth and Hemoglobinization of Erythroid Precursors from Patients with Diamond-Blackfan Anemia
por: Fibach, Eitan, et al.
Publicado: (2012)

Oxidative DNA Damage, Inflammatory Signature, and Altered Erythrocytes Properties in Diamond-Blackfan Anemia
por: Kapralova, Katarina, et al.
Publicado: (2020)

A Rare Case of Hypoparathyroidism and Myxedema Coma in a Patient With Diamond-Blackfan Anemia
por: Ruggiero, Raffaele A, et al.
Publicado: (2021)

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

Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science
por: Bhoopalan, Senthil Velan, et al.
Publicado: (2023)

S277: IPSC DISEASE MODELS TO STUDY AND TREAT DIAMOND-BLACKFAN ANEMIA SYNDROME (DBAS)
por: Clark, Chantal, et al.
Publicado: (2023)

Adult-onset Diamond-Blackfan anemia with a novel mutation in the exon 5 of RPL11: too late and too rare
por: Flores Ballester, Elena, et al.
Publicado: (2015)

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)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_et3v16ohp86h8tg750qk4tao1v