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DHX30 Coordinates Cytoplasmic Translation and Mitochondrial Function Contributing to Cancer Cell Survival.
Bosco B, Rossi A, Rizzotto D, Hamadou MH, Bisio A, Giorgetta S, Perzolli A, Bonollo F, Gaucherot A, Catez F, Diaz JJ, Dassi E, Inga A. Bosco B, et al. Cancers (Basel). 2021 Aug 31;13(17):4412. doi: 10.3390/cancers13174412. Cancers (Basel). 2021. PMID: 34503222 Free PMC article.
Exploiting RIP, eCLIP, and gene expression data, we identified fourteen mitoribosome transcripts we propose as direct DHX30 targets that can be used to explore the prognostic value of this mechanism in cancer. ...Targeting DHX30 could, thus, expose a vulnerab …
Exploiting RIP, eCLIP, and gene expression data, we identified fourteen mitoribosome transcripts we propose as direct DHX30 targets t …
Molecular karyotyping and gene expression analysis in childhood cancer patients.
Danuta G, Tobias M, Marcus D, Miriam E, Nergiz K, Olesja S, Steffen R, Tanja Z, Christian M, Thomas H, Peter SK, Heather C, Johanna M, Alicia P, Heidi R, Claudia S, Thomas H, Dirk P, Manuela M, Heinz S. Danuta G, et al. J Mol Med (Berl). 2020 Aug;98(8):1107-1123. doi: 10.1007/s00109-020-01937-4. Epub 2020 Jun 23. J Mol Med (Berl). 2020. PMID: 32577795 Free PMC article.
The genetic etiology of sporadic childhood cancer cases remains unclear. We recruited a cohort of 20 patients who survived a childhood malignancy and then developed a second primary cancer (2N), and 20 carefully matched patients who survived a childhood cancer …
The genetic etiology of sporadic childhood cancer cases remains unclear. We recruited a cohort of 20 patients who survived a childhoo …
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.
Haratz KK, Malinger G, Erlik U, Goldstein R, Shohat M, Birnbaum R. Haratz KK, et al. Prenat Diagn. 2024 Mar;44(3):357-359. doi: 10.1002/pd.6536. Epub 2024 Feb 17. Prenat Diagn. 2024. PMID: 38366977
Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > T in the DHX30 gene was detected. This variant has been previously reported in children and adults, mostly with a severe phenotype …
Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > …
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Eldomery MK, et al. Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6. Genome Med. 2017. PMID: 28327206 Free PMC article.
Both the analytical pipeline and the collaborative efforts between the diagnostic and research laboratories provided insights that allowed recent disease gene discoveries (PURA, TANGO2, EMC1, GNB5, ATAD3A, and MIPEP) and increased the number of novel genes, defined in this study …
Both the analytical pipeline and the collaborative efforts between the diagnostic and research laboratories provided insights that allowed r …
RAPIDASH: A tag-free enrichment of ribosome-associated proteins reveals compositional dynamics in embryonic tissues and stimulated macrophages.
Susanto TT, Hung V, Levine AG, Kerr CH, Yoo Y, Chen Y, Oses-Prieto JA, Fromm L, Fujii K, Wernig M, Burlingame AL, Ruggero D, Barna M. Susanto TT, et al. bioRxiv [Preprint]. 2023 Dec 7:2023.12.07.570613. doi: 10.1101/2023.12.07.570613. bioRxiv. 2023. PMID: 38106052 Free PMC article. Preprint.
We applied RAPIDASH to mouse embryonic tissues and identified hundreds of potential RAPs, including DHX30 and LLPH, two forebrain RAPs important for neurodevelopment. ...
We applied RAPIDASH to mouse embryonic tissues and identified hundreds of potential RAPs, including DHX30 and LLPH, two forebrain RAP …
Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to Relapse.
Farrar JE, Schuback HL, Ries RE, Wai D, Hampton OA, Trevino LR, Alonzo TA, Guidry Auvil JM, Davidsen TM, Gesuwan P, Hermida L, Muzny DM, Dewal N, Rustagi N, Lewis LR, Gamis AS, Wheeler DA, Smith MA, Gerhard DS, Meshinchi S. Farrar JE, et al. Cancer Res. 2016 Apr 15;76(8):2197-205. doi: 10.1158/0008-5472.CAN-15-1015. Epub 2016 Mar 3. Cancer Res. 2016. PMID: 26941285 Free PMC article.
Recurrent somatic variants [in (greater than or equal to) 2 patients] were identified for 10 genes (FLT3, NRAS, PTPN11, WT1, TET2, DHX15, DHX30, KIT, ETV6, KRAS), with variable persistence at relapse. The variant allele fraction (VAF), used to measure the prevalence of som …
Recurrent somatic variants [in (greater than or equal to) 2 patients] were identified for 10 genes (FLT3, NRAS, PTPN11, WT1, TET2, DHX15, …