Deregulation of protein phosphatase expression in acute myeloid leukemia

Kabir, Nuzhat N.; Rönnstrand, Lars; Kazi, Julhash U.

doi:10.1007/s12032-013-0517-8

Cited by 28 publications

(20 citation statements)

References 20 publications

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“…GHR variation has been associated with GH responsiveness in some studies [29, 42-46], but not others [29, 47-51], likely due to methodological differences and/or genetic variations among the populations studied [52]. In common with the latter studies we did not find an association between GHR alleles and 1st-year response to GH treatment in our ISS cohort.…”

Section: Discussionsupporting

confidence: 63%

Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Quigley

Brown

et al. 2019

Horm Res Paediatr

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Background/Aims: The term idiopathic short stature (ISS) describes short stature of unknown, but likely polygenic, etiology. This study aimed to identify genetic polymorphisms associated with the ISS phenotype, and with growth response to supplemental GH. Methods: Using a case-control analysis we compared the prevalence of “tall” versus “short” alleles at 52 polymorphic loci (17 in growth-related candidate genes, 35 identified in prior genome-wide association studies of adult height) in 94 children with ISS followed in the Genetics and Neuroendocrinology of Short Stature International Study, versus 143 controls from the Fels Longitudinal Study. Results: Four variants were nominally associated with ISS using a genotypic model, confirmed by a simultaneous confident inference approach: compared with controls children with ISS had lower odds of “tall” alleles (odds ratio, 95% CI) for GHR (0.52, 0.29–0.96); rs2234693/ESR1 (0.50, 0.25–0.98); rs967417/BMP2 (0.39, 0.17–0.93), and rs4743034/ZNF462 (0.40, 0.18–0.89). Children with ISS also had lower odds of the “tall” allele (A) at the IGFBP3 –202 promoter polymorphism (rs2855744; 0.40, 0.20–0.80) in the simultaneous confident inference analysis. A significant association with 1st-year height SD score increase during GH treatment was observed with rs11205277, located near 4 known genes: MTMR11, SV2A, HIST2H2AA3, and SF3B4; the latter, in which heterozygous mutations occur in Nager acrofacial dysostosis, appears the most relevant gene. Conclusions: In children with ISS we identified associations with “short” alleles at a number of height-related loci. In addition, a polymorphic variant located near SF3B4 was associated with the GH treatment response in our cohort. The findings in our small study warrant further investigation.

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Section: Discussionsupporting

confidence: 63%

Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Quigley

Brown

et al. 2019

Horm Res Paediatr

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“…In addition, misregulation of the active phosphatase MTMR3 contributes to susceptibility to gastric and colon carcinomas (14), oral cancer (15), and lung cancer (16), and contributes to metastasis (15,17). Aberrant expression of the inactive MTMR11 has been observed in acute myeloid leukemia (18), acute lymphocytic leukemia (19), and Her2-positive breast cancer (20). Generally, myotubularins are thought to integrate different cellular pathways, through both phosphatidylinositol regulation and protein-protein interactions (2).…”

mentioning

confidence: 99%

Myotubularin-related Proteins 3 and 4 Interact with Polo-like Kinase 1 and Centrosomal Protein of 55 kDa to Ensure Proper Abscission

St‐Denis

Gupta

Lin

et al. 2015

Molecular & Cellular Proteomics

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The myotubularins are a family of phosphatases that dephosphorylate the phosphatidylinositols phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-phosphate. Several family members are mutated in disease, yet the biological functions of the majority of myotubularins remain unknown. To gain insight into the roles of the individual enzymes, we have used affinity purification coupled to mass spectrometry to identify protein-protein interactions for the myotubularins. The myotubularin interactome comprises 66 high confidence (false discovery rate The myotubularins are a subfamily of protein tyrosine phosphatases (PTPs) 1 , consisting of sixteen conserved proteins. Despite containing the conserved C(X) 5 R catalytic motif found in all protein tyrosine phosphatases, myotubularins harbor active sites that do not dephosphorylate tyrosine, but instead catalyze the conversion of the phosphatidylinositol-type lipids From the ‡Lunenfeld

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“…Indeed, PTPRE (encoded a member of the protein tyrosine phosphatase family) [Kabir et al, 2013], GLRX3 (member of the glutaredoxin oxidoreductase family) [Ohayon et al, 2010], and PPP2R2D (delta Serine-threonine protein phosphatase 2A) [Chen et al, 2012] had been reported in somatic cancer pathologies. MTG1codes for a conserved protein required for mitochondrial translation but remains still poorly understood [Barrientos et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature

Laudier

Epiais

Pâris

et al. 2016

American J of Med Genetics Pt A

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Terminal deletion of the long arm of the chromosome 10 is a rare but well known abnormality, with a large phenotypic variability. Very few data are available about subtelomeric deletion 10q26 patients without intellectual disability. Herein, we report the case of a young adult with a classical 10q26.2qter deletion. She exhibited mainly short stature at birth and in childhood/adulthood without intellectual disability or behavioral problems. After clinical and neuropsychological assessments, we performed genomic array and transcriptomic analysis and compared our results to the data available in the literature. The patient presents a 6.525 Mb heterozygous 10q26.2qter deletion, encompassed 48 genes. Among those genes, DOCK1, C10orf90, and CALY previously described as potential candidate genes for intellectual disability, were partially or completed deleted. Interestingly, they were not deregulated as demonstrated by transcriptomic analysis. This allowed us to suggest that the mechanism involved in the deletion 10qter phenotype is much more complex that only the haploinsufficiency of DOCK1 or other genes encompassed in the deletion. Genomic and transcriptomic combined approach has to be considered to understand this pathogenesis. © 2016 Wiley Periodicals, Inc.

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Deregulation of protein phosphatase expression in acute myeloid leukemia

Cited by 28 publications

References 20 publications

Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment

Myotubularin-related Proteins 3 and 4 Interact with Polo-like Kinase 1 and Centrosomal Protein of 55 kDa to Ensure Proper Abscission

Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature

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