Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia.

Pediatric blood & cancer - 1 Apr 2022

Fedorova Daria, Ovsyannikova Galina, Kurnikova Maria, Pavlova Anna, Konyukhova Tatiana, Pshonkin Alexey, Smetanina Nataliya

Abstract excerpt

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, associated with mutations in ribosomal protein (RP) genes. Growing data on mutations in non-RP genes in patients with DBA-like phenotype became available over recent years. We describe two patients with the phenotype of DBA (onset of macrocytic anemia within the first year of life, paucity of erythroid precursors in bone marrow) and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anemia, Diamond-Blackfan
Share to Cancer-related gene regulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Germ Cells

Share to Mutation

Share to Phenotype

Share to Ribosomal Proteins

Share to RNA modifications and cancer

Share to Tumor Suppressor Protein p53

Source

Identifiers

PMID: 35084091
DOI: 10.1002/pbc.29558

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia.PMID 35084091Read ↗

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.Semantic proximity Read ↗

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.Semantic proximity Read ↗

A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.Semantic proximity Read ↗

Diamond-Blackfan anemia.Semantic proximity Read ↗

GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.Semantic proximity Read ↗

Diamond-Blackfan anemia.Semantic proximity Read ↗

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.Semantic proximity Read ↗

Adult-Onset Diamond-Blackfan Anemia with RPL11 Gene Variation Case Report.Semantic proximity Read ↗

Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.Semantic proximity Read ↗

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.Semantic proximity Read ↗

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.Semantic proximity Read ↗

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.