Sökning: WFRF:(Yang Minjun) > Constitutional and ...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 08303naa a2200505 4500 | |
001 | oai:lup.lub.lu.se:fd1aac37-db36-4d76-97b2-87b0e31f23e6 | |
003 | SwePub | |
008 | 240527s2024 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/fd1aac37-db36-4d76-97b2-87b0e31f23e62 URI |
024 | 7 | a https://doi.org/10.1002/gcc.232422 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Ragnarsson, Charlotteu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Aneuploidy in cancer,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)ch0386ra |
245 | 1 0 | a Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia |
264 | 1 | c 2024 |
520 | a Constitutional polymorphisms in ARID5B are associated with an increased risk of developing high hyperdiploid (HeH; 51–67 chromosomes) pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL). Here, we investigated constitutional and somatic ARID5B variants in 1335 BCP ALL cases from five different cohorts, with a particular focus on HeH cases. In 353 HeH ALL that were heterozygous for risk alleles and trisomic for chromosome 10, where ARID5B is located, a significantly higher proportion of risk allele duplication was seen for the SNPs rs7090445 (p = 0.009), rs7089424 (p = 0.005), rs7073837 (p = 0.03), and rs10740055 (p = 0.04). Somatic ARID5B deletions were seen in 16/1335 cases (1.2%), being more common in HeH than in other genetic subtypes (2.2% vs. 0.4%; p = 0.002). The expression of ARID5B in HeH cases with genomic deletions was reduced, consistent with a functional role in leukemogenesis. Whole-genome sequencing and RNA-sequencing in HeH revealed additional somatic events involving ARID5B, resulting in a total frequency of 3.6% of HeH cases displaying a somatic ARID5B aberration. Overall, our results show that both constitutional and somatic events in ARID5B are involved in the leukemogenesis of pediatric BCP ALL, particularly in the HeH subtype. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
653 | a ARID5B variants | |
653 | a B-cell precursor acute lymphoblastic leukemia | |
653 | a constitutional | |
653 | a high hyperdiploidy | |
653 | a pediatric | |
653 | a somatic | |
700 | 1 | a Yang, Minjunu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Aneuploidy in cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)mi3441ya |
700 | 1 | a Moura-Castro, Larissa Helenau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Aneuploidy in cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)la3071di |
700 | 1 | a Aydın, Efeu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Aneuploidy in cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)me6811ay |
700 | 1 | a Gunnarsson, Rebeqau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups4 aut0 (Swepub:lu)stem-rgu |
700 | 1 | a Olsson-Arvidsson, Lindau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups,Region Skåne4 aut0 (Swepub:lu)med-ldo |
700 | 1 | a Lilljebjörn, Henriku Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)tmb-hli |
700 | 1 | a Fioretos, Thoasu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,LTH profilområde: Teknik för hälsa,LTH profilområden,Lunds Tekniska Högskola,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,LTH Profile Area: Engineering Health,LTH Profile areas,Faculty of Engineering, LTH,Region Skåne4 aut0 (Swepub:lu)kgen-tfi |
700 | 1 | a Duployez, Nicolasu Lille University Hospital4 aut |
700 | 1 | a Zaliova, Marketau Charles University in Prague,University Hospital Motol4 aut |
700 | 1 | a Zuna, Janu University Hospital Motol,Charles University in Prague4 aut |
700 | 1 | a Castor, Andersu Skåne University Hospital4 aut0 (Swepub:lu)stam-aca |
700 | 1 | a Johansson, Bertilu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups,Region Skåne4 aut0 (Swepub:lu)kgen-bjo |
700 | 1 | a Paulsson, Kajsau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Aneuploidi i cancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Aneuploidy in cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)kgen-kpa |
710 | 2 | a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org |
773 | 0 | t Genes Chromosomes and Cancerg 63:5q 63:5x 1045-2257 |
856 | 4 | u http://dx.doi.org/10.1002/gcc.23242x freey FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/fd1aac37-db36-4d76-97b2-87b0e31f23e6 |
856 | 4 8 | u https://doi.org/10.1002/gcc.23242 |
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