Varaico: Literature-Extracted Genetic Variants

Gene:PAX5
Variant:p.G183S
Back to variants list

PAX5

NM_016734.3:p.G183S

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

Familial Patterns in Acute Lymphoblastic Leukemia: Lessons From Three Siblings.

Khanahmad A et al.

Clinical Case Reports, 2025

IGH::IL3-Rearranged B-Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant.

Urbański B et al.

Genes, Chromosomes & Cancer, 2025

Overt and covert genetic causes of pediatric acute lymphoblastic leukemia.

Stoltze U et al.

Leukemia, 2025

Copy number alterations in pediatric B-cell precursor acute lymphoblastic leukemia patients and their association with patients' outcome.

Abdelfattah NE et al.

Annals of Hematology, 2025

Unraveling the Genetic Heterogeneity of Acute Lymphoblastic Leukemia Based on NGS Applications.

Ramírez Maldonado V et al.

Cancers, 2024

Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation.

Bettini LR et al.

Leukemia, 2024

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

GET: a foundation model of transcription across human cell types.

Fu X et al.

Biorxiv : the Preprint Server for Biology, 2024

Unraveling Copy Number Alterations in Pediatric B-Cell Acute Lymphoblastic Leukemia: Correlation with Induction Phase Remission Using MLPA.

Aisyi M et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in PAX5. The first report in Mexico.

García-Solorio J et al.

Frontiers in Oncology, 2024

Essential role of the Pax5 C-terminal domain in controlling B cell commitment and development.

Gruenbacher S et al.

The Journal of Experimental Medicine, 2023

A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia.

van Engelen N et al.

Leukemia, 2023

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella JR et al.

Frontiers in Oncology, 2023

Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants.

Escudero A et al.

Leukemia, 2022

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.

Douglas SPM et al.

Scientific Reports, 2022

35739278 (PubMed )
Supplement: 41598_2022_14364_MOESM2_ESM.pdf

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Gofin Y et al.

Human Mutation, 2022

PAX5 alterations in B-cell acute lymphoblastic leukemia.

Jia Z et al.

Frontiers in Oncology, 2022

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel.

Byrjalsen A et al.

Familial Cancer, 2021

34061292 (PubMed )
Supplement: 10689_2021_254_MOESM2_ESM.xlsx › References

Biologic and Therapeutic Implications of Genomic Alterations in Acute Lymphoblastic Leukemia.

Iacobucci I et al.

Journal of Clinical Medicine, 2021

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Klco JM et al.

Nature Reviews. Cancer, 2021

Cell Fate Decisions: The Role of Transcription Factors in Early B-cell Development and Leukemia.

Fischer U et al.

Blood Cancer Discovery, 2020

Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia.

Bloom M et al.

Expert Review of Hematology, 2020

Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia.

Gocho Y et al.

Blood, 2019

Genetic Predisposition to Childhood Cancer in the Genomic Era.

Plon SE et al.

Annual Review of Genomics and Human Genetics, 2019

Germline Predisposition to Hematolymphoid Neoplasia.

Weinberg OK et al.

American Journal of Clinical Pathology, 2019

PAX5 biallelic genomic alterations define a novel subgroup of B-cell precursor acute lymphoblastic leukemia.

Bastian L et al.

Leukemia, 2019

Somatic and germline genomics in paediatric acute lymphoblastic leukaemia.

Pui CH et al.

Nature Reviews. Clinical Oncology, 2019

Transcription factor mutations as a cause of familial myeloid neoplasms.

Churpek JE et al.

The Journal of Clinical Investigation, 2019

PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.

Gu Z et al.

Nature Genetics, 2019

[Genetic predisposition to childhood cancer].

Ripperger T et al.

Der Pathologe, 2018

Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.

Porter CC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Germ line mutations associated with leukemias.

Porter CC

Hematology. American Society of Hematology. Education Program, 2016

Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.

Duployez N et al.

Expert Review of Hematology, 2016

GEMMs addressing Pax5 loss-of-function in childhood pB-ALL.

Auer F et al.

European Journal of Medical Genetics, 2016

Genetic predisposition to acute lymphoblastic leukemia: Overview on behalf of the I-BFM ALL Host Genetic Variation Working Group.

Kratz CP et al.

European Journal of Medical Genetics, 2016

Single nucleotide polymorphisms in clinics: Fantasy or reality for cancer?

Srinivasan S et al.

Critical Reviews in Clinical Laboratory Sciences, 2016

Infection Exposure is a Causal Factor in B-cell Precursor Acute Lymphoblastic Leukemia as a Result of Pax5-Inherited Susceptibility.

Martín-Lorenzo A et al.

Cancer Discovery, 2015

PAX5 alterations in genetically unclassified childhood Precursor B-cell acute lymphoblastic leukaemia.

Stasevich I et al.

British Journal of Haematology, 2015

Cancer susceptibility syndromes in children in the area of broad clinical use of massive parallel sequencing.

Kuhlen M et al.

European Journal of Pediatrics, 2015

Redefining ALL classification: toward detecting high-risk ALL and implementing precision medicine.

Hunger SP et al.

Blood, 2015

Genomics in acute lymphoblastic leukaemia: insights and treatment implications.

Roberts KG et al.

Nature Reviews. Clinical Oncology, 2015

Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.

Auer F et al.

Leukemia, 2014

Childhood B-acute lymphoblastic leukemia: a genetic update.

Woo JS et al.

Experimental Hematology & Oncology, 2014

Genome sequencing of lymphoid malignancies.

Mullighan CG

Blood, 2013

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.

Shah S et al.

Nature Genetics, 2013

Germline PAX5 mutations and B cell leukemia.

Hyde RK et al.

Nature Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."