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Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Deorukhkar A, Kulkarni A, Kedar P. Deorukhkar A, et al. Mol Biol Rep. 2022 Mar;49(3):2141-2147. doi: 10.1007/s11033-021-07031-3. Epub 2022 Jan 22. Mol Biol Rep. 2022. PMID: 35064402
Two types of recessive congenital methaemoglobinemia (RCM) are caused by the NADH-dependent cytochrome b5 reductase enzyme deficiency of the CYB5R3 gene. RCM-I is characterized by higher methaemoglobin levels (> 2 g/dL), causing only cyanosis, whereas RCM-II is associat …
Two types of recessive congenital methaemoglobinemia (RCM) are caused by the NADH-dependent cytochrome b5 reductase enzyme deficiency of the …
Polymorphisms in the carcinogen detoxification genes CYB5A and CYB5R3 and breast cancer risk in African American women.
Blanke KL, Sacco JC, Millikan RC, Olshan AF, Luo J, Trepanier LA. Blanke KL, et al. Cancer Causes Control. 2014 Nov;25(11):1513-21. doi: 10.1007/s10552-014-0454-7. Epub 2014 Sep 16. Cancer Causes Control. 2014. PMID: 25225034 Free PMC article.
We hypothesized that CYB5A and CYB5R3 polymorphisms would be associated with breast cancer risk in women. ...CONCLUSIONS: CYB5R3 I1M+6C>T should be considered in future molecular epidemiologic studies of breast cancer risk in AfrAms. ...
We hypothesized that CYB5A and CYB5R3 polymorphisms would be associated with breast cancer risk in women. ...CONCLUSIONS: CYB5R3 …
The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.
Gordeuk VR, Shah BN, Zhang X, Thuma PE, Zulu S, Moono R, Reading NS, Song J, Zhang Y, Nouraie M, Campbell A, Minniti CP, Rana SR, Darbari DS, Kato GJ, Niu M, Castro OL, Machado R, Gladwin MT, Prchal JT. Gordeuk VR, et al. Am J Hematol. 2020 Nov;95(11):1269-1279. doi: 10.1002/ajh.25941. Epub 2020 Sep 23. Am J Hematol. 2020. PMID: 32697331 Free PMC article. Clinical Trial.
Both conditions are associated with oxidative stress, hemolysis and anemia. The CYB5R3 gene encodes cytochrome b5 reductase 3, which converts methemoglobin to hemoglobin through oxidation of NADH. ...Functional studies in SCD erythrocytes reveal …
Both conditions are associated with oxidative stress, hemolysis and anemia. The CYB5R3 gene encodes cytochrome b5 re …
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Kedar PS, Gupta V, Warang P, Chiddarwar A, Madkaikar M. Kedar PS, et al. Hematology. 2018 Sep;23(8):567-573. doi: 10.1080/10245332.2018.1444920. Epub 2018 Feb 27. Hematology. 2018. PMID: 29482478
Molecular characterization showed a novel homozygous mutation p.Arg192Cys in CYB5R3 gene is an evolutionarily conserved position located in exon 7 in all eight index cases. ...Our study indicated that novel homozygous mutation p.Arg192Cys in CYB5R3 gene present in e …
Molecular characterization showed a novel homozygous mutation p.Arg192Cys in CYB5R3 gene is an evolutionarily conserved position loca …
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P. Gupta V, et al. Hum Mutat. 2020 Apr;41(4):737-748. doi: 10.1002/humu.23973. Epub 2020 Jan 30. Hum Mutat. 2020. PMID: 31898843
NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. ...In this update, over 78 different variants have been described for RCM g …
NADH-cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemi …
Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy.
Fuller TD, Spracklen CN, Ryckman KK, Knake LA, Busch TD, Momany AM, Murray JC, Dagle JM. Fuller TD, et al. Pediatr Res. 2015 Mar;77(3):472-6. doi: 10.1038/pr.2014.206. Epub 2014 Dec 18. Pediatr Res. 2015. PMID: 25521918 Free PMC article.
METHODS: A population of 127 preterm infants was genotyped for five single-nucleotide polymorphisms (SNPs) in the CYB5A and CYB5R3 genes. iNO dose and levels of MetHb were obtained by chart abstraction. ...RESULTS: An association was found between the heterozygous genotype …
METHODS: A population of 127 preterm infants was genotyped for five single-nucleotide polymorphisms (SNPs) in the CYB5A and CYB5R3 ge …
Effect of mutations in porcine CYB5A and CYP17A1 on the metabolism of pregnenolone.
Squires EJ, Gray MA, Lou Y. Squires EJ, et al. J Steroid Biochem Mol Biol. 2019 Dec;195:105469. doi: 10.1016/j.jsbmb.2019.105469. Epub 2019 Sep 8. J Steroid Biochem Mol Biol. 2019. PMID: 31509771
We then expressed the various mutations of CYB5A and CYP17A1 along with porcine cytochrome P450 oxidoreductase (POR) and cytochrome b5 reductase (CYB5R3) in HEK293 cells and measured the formation of metabolites 16A, 17OHP and DHEA from radiolabelled pregnenolone by high p …
We then expressed the various mutations of CYB5A and CYP17A1 along with porcine cytochrome P450 oxidoreductase (POR) and cytochrome b5 reduc …
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.
Ullah A, Shah AA, Syed F, Mahmood A, Ur Rehman H, Khurshid B, Samad A, Ahmad W, Basit S. Ullah A, et al. Medicina (Kaunas). 2023 Feb 16;59(2):379. doi: 10.3390/medicina59020379. Medicina (Kaunas). 2023. PMID: 36837579 Free PMC article.
Molecular dynamics study revealed that the variant p.(Ile224Phe) in the CYB5R3 resides in the NADH domain of the protein, the aberrant function of which is detrimental. Conclusions: The present study expanded the variant spectrum of the CYB5R3 gene. This will facili …
Molecular dynamics study revealed that the variant p.(Ile224Phe) in the CYB5R3 resides in the NADH domain of the protein, the aberran …
NADH-Cytochrome b5 Reductase 3 Promotes Colonization and Metastasis Formation and Is a Prognostic Marker of Disease-Free and Overall Survival in Estrogen Receptor-Negative Breast Cancer.
Lund RR, Leth-Larsen R, Caterino TD, Terp MG, Nissen J, Lænkholm AV, Jensen ON, Ditzel HJ. Lund RR, et al. Mol Cell Proteomics. 2015 Nov;14(11):2988-99. doi: 10.1074/mcp.M115.050385. Epub 2015 Sep 8. Mol Cell Proteomics. 2015. PMID: 26351264 Free PMC article.
Using stable isotopic labeling by amino acids in cell culture and subcellular fractionation, the nuclear, cytosol, and mitochondria proteomes were analyzed by LC-MS/MS, identifying a number of proteins that exhibited altered expression in isogenic metastatic versus nonmetastatic …
Using stable isotopic labeling by amino acids in cell culture and subcellular fractionation, the nuclear, cytosol, and mitochondria proteome …
23 results