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Items: 1 to 20 of 41

1.
Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II
Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Bertini, Ginevra Zanni, Giuseppe Palumbo
Brain Sci. 2022 Feb; 12(2): 182. Published online 2022 Jan 29. doi: 10.3390/brainsci12020182
PMCID:
PMC8870218
AbstractArticlePDF–1.1M
2.
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene
Manal Nicolas-Jilwan
Neuroradiol J. 2019 Apr; 32(2): 143–147. Published online 2019 Jan 7. doi: 10.1177/1971400918822153
PMCID:
PMC6410459
AbstractArticle
3.
Congenital methemoglobinemia type II in a 5‐year‐old boy
Elizabeth A. Mannino, Thomas Pluim, Jacob Wessler, Megan T. Cho, Jane Juusola, Samantha A. Schrier Vergano
Clin Case Rep. 2018 Jan; 6(1): 170–178. Published online 2017 Dec 7. doi: 10.1002/ccr3.1310
PMCID:
PMC5771927
AbstractArticlePDF–747K
4.
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II
Prashant Warang, Prabhakar Kedar, S. Sivanandam, K. Jothilakshmi, R. Sumathi, Roshan Colah
Mol Genet Metab Rep. 2015 Dec; 5: 44–47. Published online 2015 Oct 22. doi: 10.1016/j.ymgmr.2015.10.002
PMCID:
PMC5471390
AbstractArticlePDF–585K
5.
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH‐Cytochrome B5 Reductase Gene
H. Shino, Y. Otsuka‐Yamasaki, T. Sato, K. Ooi, O. Inanami, R. Sato, M. Yamasaki
J Vet Intern Med. 2018 Jan-Feb; 32(1): 165–171. Published online 2018 Jan 22. doi: 10.1111/jvim.15031
PMCID:
PMC5787195
AbstractArticlePDF–744K
6.
Congenital methemoglobinaemia due to Hb F-M-Fort Ripley in a preterm newborn
Satvinder Ghotra, Krista Jangaard, Chantale Pambrun, Conrad Vincent Fernandez
BMJ Case Rep. 2016; 2016: bcr2016214381. Published online 2016 Mar 11. doi: 10.1136/bcr-2016-214381
PMCID:
PMC4800241
AbstractArticlePDF–261K
7.
Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: Putative mechanisms of tissue-dependent enzyme deficiency
Takanori Katsube, Norihiro Sakamoto, Yasushi Kobayashi, Ritsuko Seki, Masami Hirano, Kiyoh Tanishima, Akio Tomoda, Eisuke Takazakura, Toshitsugu Yubisui, Masazumi Takeshita, Yoshiyuki Sakaki, Yasuyuki Fukumaki
Am J Hum Genet. 1991 Apr; 48(4): 799–808.
PMCID:
PMC1682939
SummaryPage BrowsePDF–1.9M
8.
Familial Psychomotor Delay of an Uncommon Cause: Type II Congenital Methemoglobinemia
Hager Barakizou, Selma Chaieb
Clin Med Insights Pediatr. 2024; 18: 11795565241229007. Published online 2024 Jan 31. doi: 10.1177/11795565241229007
PMCID:
PMC10832405
AbstractArticlePDF–884K
9.
First case of congenital methemoglobinemia in Nepalese population: a case report
Prashu Ram Bista, Anjila Shrestha, Saloni Shrestha
Ann Med Surg (Lond) 2024 Jan; 86(1): 571–574. Published online 2023 Nov 27. doi: 10.1097/MS9.0000000000001552
PMCID:
PMC10783301
AbstractArticlePDF–344K
10.
Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach
Emna Bouatrous, Sonia Nouira, Samia Menif, Houyem Ouragini
Mol Syndromol. 2023 Oct; 14(5): 375–393. Published online 2023 May 5. doi: 10.1159/000530173
PMCID:
PMC10601824
AbstractArticlePDF–2.0M
11.
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature
Dina Sameh Soliman, Mohamed Yassin
Hematol Rep. 2018 Mar 2; 10(1): 7221. Published online 2018 Mar 2. doi: 10.4081/hr.2018.7221
PMCID:
PMC5907642
AbstractArticlePDF–130K
12.
Methemoglobinemia: Living with Dormant Devil
Dhiraj J. Trivedi, Bandi Joshiraj, Vijay Bidkar, Raghavendra Rao
Indian J Clin Biochem. 2017 Jun; 32(2): 248–250. Published online 2016 Jun 13. doi: 10.1007/s12291-016-0586-5
PMCID:
PMC5382071
AbstractArticlePDF–550K
13.
NAD(P) Glycohydrolase Deficiency in Human Erythrocytes and Alteration of Cytosol NADH-Methemoglobin Diaphorase by Membrane NAD-Glycohydrolase Activity
Henri Frischer, Richard Nelson, Claudia Noyes, Paul E. Carson, James E. Bowman, Karl H. Rieckmann, Franco Ajmar
Proc Natl Acad Sci U S A. 1973 Aug; 70(8): 2406–2410. doi: 10.1073/pnas.70.8.2406
PMCID:
PMC433745
SummaryPage BrowsePDF–1.3M
14.
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia
Asmat Ullah, Abid Ali Shah, Fibhaa Syed, Arif Mahmood, Hassan Ur Rehman, Beenish Khurshid, Abdus Samad, Wasim Ahmad, Sulman Basit
Medicina (Kaunas) 2023 Feb; 59(2): 379. Published online 2023 Feb 16. doi: 10.3390/medicina59020379
PMCID:
PMC9967277
AbstractArticlePDF–2.2M
15.
Cytochrome b5 reductases: Redox regulators of cell homeostasis
Robert Hall, Shuai Yuan, Katherine Wood, Mate Katona, Adam C. Straub
J Biol Chem. 2022 Dec; 298(12): 102654. Published online 2022 Oct 29. doi: 10.1016/j.jbc.2022.102654
PMCID:
PMC9706631
AbstractArticlePDF–1.2M
16.
The CYB5R3c.350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease
Victor R. Gordeuk, Binal N. Shah, Xu Zhang, Philip E. Thuma, Stenford Zulu, Rodgers Moono, N. Scott Reading, Jihyun Song, Yingze Zhang, Mehdi Nouraie, Andrew Campbell, Caterina P. Minniti, Sohail R. Rana, Deepika S. Darbari, Gregory J. Kato, Mei Niu, Oswaldo L. Castro, Roberto Machado, Mark T. Gladwin, Josef T. Prchal
Am J Hematol. Author manuscript; available in PMC 2021 May 4.
Published in final edited form as: Am J Hematol. 2020 Nov; 95(11): 1269–1279. Published online 2020 Sep 23. doi: 10.1002/ajh.25941
PMCID:
PMC8095369
AbstractArticlePDF–2.2M
17.
Tight binding of cytochrome b5 to cytochrome P450 17A1 is a critical feature of stimulation of C21 steroid lyase activity and androgen synthesis
Donghak Kim, Vitchan Kim, Kevin D. McCarty, F. Peter Guengerich
J Biol Chem. 2021 Jan-Jun; 296: 100571. Published online 2021 Mar 20. doi: 10.1016/j.jbc.2021.100571
PMCID:
PMC8080067
AbstractArticlePDF–1.3M
18.
Characterization of a novel nicotinamide adenine dinucleotide-cytochrome b5 reductase mutation associated with canine hereditary methemoglobinemia
Yayoi OTSUKA-YAMASAKI, Osamu INANAMI, Haruka SHINO, Reeko SATO, Masahiro YAMASAKI
J Vet Med Sci. 2021 Feb; 83(2): 315–321. Published online 2020 Dec 21. doi: 10.1292/jvms.20-0390
PMCID:
PMC7972884
AbstractArticlePDF–1.3M
19.
Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in 30 dogs
J. A. Jaffey, N. S. Reading, O. Abdulmalik, R. Kreisler, G. Bullock, A. Wiest, N. A. Villani, T. Mhlanga-Mutangadura, G. S. Johnson, L. A. Cohn, N. Isaza, J. W. Harvey, U. Giger
Sci Rep. 2020; 10: 21399. Published online 2020 Dec 8. doi: 10.1038/s41598-020-78391-2
PMCID:
PMC7723051
AbstractArticlePDF–1.5M
20.
Exposure to benzo[a]pyrene of Hepatic Cytochrome P450 Reductase Null (HRN) and P450 Reductase Conditional Null (RCN) mice: Detection of benzo[a]pyrene diol epoxide-DNA adducts by immunohistochemistry and 32P-postlabelling
Volker M. Arlt, Miriam C. Poirier, Sarah E. Sykes, Kaarthik John, Michaela Moserova, Marie Stiborova, C. Roland Wolf, Colin J. Henderson, David H. Phillips
Toxicol Lett. Author manuscript; available in PMC 2020 Sep 8.
Published in final edited form as: Toxicol Lett. 2012 Sep 3; 213(2): 160–166. Published online 2012 Jul 1. doi: 10.1016/j.toxlet.2012.06.016
PMCID:
PMC7477777
AbstractArticlePDF–997K

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