| CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults. | CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults.
Chaudhary R, Straub AC, Aggor FEY, Onasanya I, Richardson J, Strollo PJ, Reis SE, Olafiranye O., | 04/22/2024 |
| Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia. | Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
Deorukhkar A, Kulkarni A, Kedar P. | 04/9/2022 |
| Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. | Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P. | 07/24/2021 |
| The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease. | 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., Free PMC Article | 01/2/2021 |
| study indicated that novel homozygous mutation p.Arg192Cys in CYB5R3 gene present in eight cases and the possibility of high prevalence of heterozygous in Indian population causing Type I recessive congenital methemoglobinemia. | 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. | 11/3/2018 |
| Data suggest that cytochrome b5 (CYB5) and cytochrome b5 reductase 3 (CYB5R3) can reduce human cytoglobin (CYGB) and zebrafish cytoglobins at rates up to 250-fold higher than those reported for the known physiological substrates, hemoglobin and myoglobin; the three proteins (CYB5+CYB5R3+CYGB) appear to constitute a metabolon involved in generation of nitric oxide. | Efficient Reduction of Vertebrate Cytoglobins by the Cytochrome b(5)/Cytochrome b(5) Reductase/NADH System.
Amdahl MB, Sparacino-Watkins CE, Corti P, Gladwin MT, Tejero J., Free PMC Article | 08/12/2017 |
| CYB5R3 promotes colonization and metastasis formation and is a prognostic marker of disease-free and overall survival in estrogen receptor-negative breast cancer. | 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., Free PMC Article | 08/13/2016 |
| Variants in CYB5A and CYB5R3 should be considered in the evaluation of breast cancer risk in African American women. | 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., Free PMC Article | 04/9/2016 |
| Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy. | 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., Free PMC Article | 12/5/2015 |
| The results unveil a potential mechanism of action by which CYB5R3 deficiency contributes to the pathophysiological underpinnings of neurological disorders in RHM patients. | Membrane-bound CYB5R3 is a common effector of nutritional and oxidative stress response through FOXO3a and Nrf2.
Siendones E, SantaCruz-Calvo S, Martín-Montalvo A, Cascajo MV, Ariza J, López-Lluch G, Villalba JM, Acquaviva-Bourdain C, Roze E, Bernier M, de Cabo R, Navas P., Free PMC Article | 10/31/2015 |
| NADH-CYB5R deficiency causes two forms of recessive congenital methemoglobinemia with cyanosis. | Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India.
Warang PP, Kedar PS, Shanmukaiah C, Ghosh K, Colah RB. | 08/22/2015 |
| Dapsone-associated methemoglobinemia in a patient with slow NAT2*5B haplotype and impaired cytochrome b5 reductase activity | Dapsone-associated methemoglobinemia in a patient with slow NAT2*5B haplotype and impaired cytochrome b5 reductase activity.
Abouraya M, Sacco JC, Hayes K, Thomas S, Kitchens CS, Trepanier LA., Free PMC Article | 06/27/2015 |
| A comprehensive overview of the study of structure and function of human cytochrome b5 reductase. | Human cytochrome b5 reductase: structure, function, and potential applications.
Elahian F, Sepehrizadeh Z, Moghimi B, Mirzaei SA. | 01/3/2015 |
| Data indicate that mitochondrial amidoxime reducing components 1 and 2 together with the electron transport proteins NADH-cytochrome b5 reductase (CYB5R) and cytochrome b5 (CYB5) catalyze the reduction of N-hydroxylated compounds such as amidoximes. | The involvement of mitochondrial amidoxime reducing components 1 and 2 and mitochondrial cytochrome b5 in N-reductive metabolism in human cells.
Plitzko B, Ott G, Reichmann D, Henderson CJ, Wolf CR, Mendel R, Bittner F, Clement B, Havemeyer A., Free PMC Article | 09/28/2013 |
| Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia. | [Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia].
Galeeva NM, Voevoda MI, Spiridonova MG, Stepanov VA, Poliakov AV. | 09/21/2013 |
| Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia | [Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia].
Galeeva NM, Nenasheva SA, Kleĭmenova IS, Poliakov AV. | 02/16/2013 |
| CYB5R3 gene of three probands with type I methemoglobinemia and their relatives were sequenced revealing several putative causative mutations; in one subject multiple mutations were present | Molecular basis of two novel mutations found in type I methemoglobinemia.
Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT., Free PMC Article | 10/1/2011 |
| We conclude that Cytochrome b(5)and cytochrome b(5) reductase catalyze the reduction of arylhydroxylamines in breast tissue. | Individual variability in the detoxification of carcinogenic arylhydroxylamines in human breast.
Rhoads K, Sacco JC, Drescher N, Wong A, Trepanier LA., Free PMC Article | 09/24/2011 |
| novel allelic mutation identified at codon 235 is in helix 5; first report of mental retardation because of the novel mutation, along with a second mutation in the NADH-b5R gene in an Indian family with recessive congenital methemoglobinemia Type II | Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations.
Kedar PS, Warang P, Ghosh K, Colah RB. | 07/2/2011 |
| Dia1 is localized to the perinuclear endoplasmic reticulum in an RNA-zipcode-independent manner in fibroblasts. | An RNA-zipcode-independent mechanism that localizes Dia1 mRNA to the perinuclear ER through interactions between Dia1 nascent peptide and Rho-GTP.
Liao G, Ma X, Liu G., Free PMC Article | 06/25/2011 |
| novel cSNPs associated with significantly altered protein expression and/or hydroxylamine reduction activities, but only minimally impact overall observed phenotypic variability | Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction.
Sacco JC, Trepanier LA., Free PMC Article | 02/22/2010 |
| The decline in the activities of G6PD and b5Rm would indicate a decrease in the antioxidant response associated with RBC aging. | Effects of aging on antioxidant response and phagocytosis in senescent erythrocytes.
Brajovich ML, Rucci A, Acosta IL, Cotorruelo C, García Borrás S, Racca L, Biondi C, Racca A. | 01/21/2010 |
| report of the clinical and molecular characteristics of 6 new patients with recessive hereditary methemoglobinemia due to cytochrome b5 reductase deficiency; two new mutations of DIA1, c. 82 C>T(Gln27STOP) and c. 136 C>T(Arg45Trp), were found | Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene.
Fermo E, Bianchi P, Vercellati C, Marcello AP, Garatti M, Marangoni O, Barcellini W, Zanella A. | 01/21/2010 |
| A novel intronic mutation at 22163 caused markedly reduced mRNA (7% of normal) resulting in type II methemoglobinemia. | Heterogeneity of the molecular biology of methemoglobinemia: a study of eight consecutive patients.
Maran J, Guan Y, Ou CN, Prchal JT. | 01/21/2010 |
| Amino acid substitution results in congsenital methemoglobinemia. | Congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase.
Percy MJ, Oren H, Savage G, Irken G. | 01/21/2010 |