Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis

Brindley, Elena C.; Papoin, Julien; Kennedy, Lauren Paige; Robledo, Raymond F.; Ciciotte, Steven L.; Kalfa, Theodosia A.; Peters, Luanne L.; Blanc, Lionel

doi:10.1016/j.bcmd.2020.102524

Cited by 3 publications

(2 citation statements)

References 34 publications

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“…3 Brindley et al demonstrated that RASA3 plays a regulatory role in cell-cycle progression in murine hematopoietic progenitors and late erythroblasts. 4 A homozygous RASA3 mutation was observed in a 6-yearold girl who underwent whole-exome sequencing (WES) analysis for the indication of BMF and RASopathy phenotype suspicion. In this article, we discussed that the RASA3 gene is a candidate gene for RASopathy-like phenotype, providing clinical and functional data.…”

Section: Introductionmentioning

confidence: 99%

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A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3

Ayaz,

Doğru,

Kök

et al. 2023

J Pediatr Genet

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Although many genetic etiologies, such as Fanconi anemia, Shwachman–Diamond syndrome, dyskeratosis congenita, and Diamond–Blackfan anemia, from hereditary bone marrow failure are known today, the responsible gene remains unknown in a significant part of these patients. A 6-year-old girl, whose parents were first-cousin consanguineous, was referred to the pediatric hematology department due to growth retardation, thrombocytopenia, neutropenia, and anemia. The patient had low-set ears, pectus excavatum inferiorly, and cafe-au-lait spots. In whole-exome analysis, p.K385T (c.1154A > C) variant in the RASA3 gene was detected as homozygous. The amino acid position of the alteration is located in the conserved and ordered region, corresponding to the Ras GTPase activation domain (Ras-GAP) in the center of the protein. Importantly, most of in silico prediction tools of pathogenicity predicts the variant as damaging. RASopathies, which are characterized by many common clinical findings, such as atypical facial features, growth delays, and heart defects, are a group of rare genetic diseases caused by mutations in the genes involved in the Ras-MAPK pathway. The findings in this patient were consistent with the RASopathy-like phenotype and bone marrow failure. Interestingly, enrichment of RASopathy genes was observed in the RASA3 protein–protein interaction network. Furthermore, the subsequent topological clustering revealed a putative function module, which further implicates RASA3 in this disease as a novel potential causative gene. In this context, the detected RASA3 mutation could be manifesting itself clinically as the observed phenotype by disrupting the functional cooperation between the RASA3 protein and its interaction partners. Relatedly, current literature also supports the obtained findings. Overall, this study provides new insights into RASopathy and put forward the RASA3 gene as a novel candidate gene for this disease group.

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Section: Introductionmentioning

confidence: 99%

“…3 Brindley et al demonstrated that RASA3 plays a regulatory role in cell-cycle progression in murine hematopoietic progenitors and late erythroblasts. 4…”

Section: Introductionmentioning

confidence: 99%

A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3

Ayaz,

Doğru,

Kök

et al. 2023

J Pediatr Genet

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Transcriptomic profiling of the thermal tolerance in two subspecies of the bay scallop Argopecten irradians

Yu,

Song,

Zhang

et al. 2024

Comparative Biochemistry and Physiology Part D: Genomics and Pr

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Equity implications of electric vehicles: A systematic review on the spatial distribution of emissions, air pollution and health impacts

Sharma

Shiwang

Lee

et al. 2023

Environ. Res. Lett.

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Scaling up electric vehicles (EVs) provides an avenue to mitigate both carbon emissions and air pollution from road transport. The benefits of EV adoption for climate, air quality, and health have been widely documented. Yet, evidence on the distribution of those impacts has not been systematically reviewed, despite its central importance to ensure a just and equitable transition. Here we perform a systematic review of recent EV studies that have examined the spatial distribution of the emissions, air pollution, and health impacts, as an important aspect of the equity implications. Using the Context-Interventions-Mechanisms-Outcomes (CIMO) framework with a two-step search strategy, we narrowed down to 49 papers that met our inclusion criteria for detailed review and synthesis. We identified two key factors that have been found to influence the spatial distributions. First, the cross-sectoral linkages may result in unintended impacts elsewhere. For instance, the generation of electricity to charge EVs, and the production of batteries and other materials to manufacture EVs could increase the emissions and pollution in locations other than where EVs are adopted. Second, since air pollution and health are local issues, additional location-specific factors may play a role in determining the spatial distribution, such as the wind transport of pollution and the size and vulnerability of the exposed populations. Based on our synthesis of existing evidence, we highlight two important areas for further research: 1) fine-scale pollution and health impact assessment to better characterize exposure and health disparities across regions and population groups; and 2) a systematic representation of the EV value chain that captures the linkages between the transport, power and manufacturing sectors as well as the regionally-varying activities and impacts.

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Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis

Cited by 3 publications

References 34 publications

A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3

A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3

Transcriptomic profiling of the thermal tolerance in two subspecies of the bay scallop Argopecten irradians

Equity implications of electric vehicles: A systematic review on the spatial distribution of emissions, air pollution and health impacts

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