Harnessing genomic and bioinformatic data to broaden understanding of leukaemia across continents DOI Creative Commons

Gugun Gumelar,

Mia Ulfa,

D.P. Amukti

et al.

SCRIPTA MEDICA, Journal Year: 2024, Volume and Issue: 55(6), P. 717 - 725

Published: Jan. 1, 2024

Background/Aim: Leukaemia is a malignant disease of blood cells found in the bone marrow, which can be divided into acute lymphocytic leukaemia and myelocytic leukaemia. Current management still uses chemo therapy as main but has many side effects, therefore new approach needed to identify genetic factors involved The aim this study was investigate gene variations that have potential pathogenic properties Methods: This used genome-wide association (GWAS) data obtained from National Human Genome Research Institute (NHGRI) search for genomic variants associated with then screened using SNPnexus detect potentially protein-damaging variants. Furthermore, expression these analysed GTEx portal. Results: Of 2115 found, four were deleterious, namely rs12140153, rs140386498, rs757110 rs2066827, representing different genes, PATJ, MINDY1, ABCC8 CDKN1B. Alterations CDKN1B genes affect brain development. PATJ maintains cell integrity, MINDY1 regulates expression, controls cycle glucose levels. Their deregulation neurological dysfunction Variation allele frequencies showed differences between continents, rs2066827 having higher than rs12140153 rs140386498. Variant also varied tissues, showing Conclusion: successfully identified by harnessing bioinformatic database, are leukemia demonstrated distribution across populations tissues.

Language: Английский

Prenylation-dependent membrane localization of a deubiquitinating enzyme and its role in regulating G protein-mediated signaling in yeast DOI Creative Commons

Fangli Weng,

Xin Jin,

Sindhu Ragunathan

et al.

Journal of Biological Chemistry, Journal Year: 2025, Volume and Issue: unknown, P. 108180 - 108180

Published: Jan. 1, 2025

Language: Английский

Citations

0
Transforming breast cancer diagnosis and treatment with large language Models: A comprehensive survey DOI
Mohsen Ghorbian,

Mostaf Ghobaei-Arani,

‪Saeid Ghorbian

et al.

Methods, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Language: Английский

Citations

0
Harnessing genomic and bioinformatic data to broaden understanding of leukaemia across continents DOI Creative Commons

Gugun Gumelar,

Mia Ulfa,

D.P. Amukti

et al.

SCRIPTA MEDICA, Journal Year: 2024, Volume and Issue: 55(6), P. 717 - 725

Published: Jan. 1, 2024

Background/Aim: Leukaemia is a malignant disease of blood cells found in the bone marrow, which can be divided into acute lymphocytic leukaemia and myelocytic leukaemia. Current management still uses chemo therapy as main but has many side effects, therefore new approach needed to identify genetic factors involved The aim this study was investigate gene variations that have potential pathogenic properties Methods: This used genome-wide association (GWAS) data obtained from National Human Genome Research Institute (NHGRI) search for genomic variants associated with then screened using SNPnexus detect potentially protein-damaging variants. Furthermore, expression these analysed GTEx portal. Results: Of 2115 found, four were deleterious, namely rs12140153, rs140386498, rs757110 rs2066827, representing different genes, PATJ, MINDY1, ABCC8 CDKN1B. Alterations CDKN1B genes affect brain development. PATJ maintains cell integrity, MINDY1 regulates expression, controls cycle glucose levels. Their deregulation neurological dysfunction Variation allele frequencies showed differences between continents, rs2066827 having higher than rs12140153 rs140386498. Variant also varied tissues, showing Conclusion: successfully identified by harnessing bioinformatic database, are leukemia demonstrated distribution across populations tissues.

Language: Английский

Citations

0