PubMed (GeneRIF) for id: 50484

Year	Number of Results
2001	1
2003	3
2005	3
2006	5
2007	2
2008	5
2009	5
2010	2
2011	7
2012	6
2013	2
2014	4
2015	2
2016	3
2017	6
2018	3
2019	3
2020	4
2023	3
2024	0

1

Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.

Su L, Wang X, Wang J, Luh F, Yen Y. Su L, et al. Sci Rep. 2023 Nov 14;13(1):19899. doi: 10.1038/s41598-023-47284-5. Sci Rep. 2023. PMID: 37964013 Free PMC article.

2

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R. Restrepo-Vera JL, et al. J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23. J Hum Genet. 2023. PMID: 36959467

3

Ribonucleotide reductase subunit switching in hepatoblastoma drug response and relapse.

Brown A, Pan Q, Fan L, Indersie E, Tian C, Timchenko N, Li L, Hansen BS, Tan H, Lu M, Peng J, Pruett-Miller SM, Yu J, Cairo S, Zhu L. Brown A, et al. Commun Biol. 2023 Mar 8;6(1):249. doi: 10.1038/s42003-023-04630-7. Commun Biol. 2023. PMID: 36882565 Free PMC article.

4

The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutation.

Tseng YT, Li SW, HuangFu WC, Yen Y, Liu IH. Tseng YT, et al. Mol Genet Genomic Med. 2020 Nov;8(11):e1497. doi: 10.1002/mgg3.1497. Epub 2020 Sep 15. Mol Genet Genomic Med. 2020. PMID: 32931159 Free PMC article.

5

Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study.

Ait El Cadi C, Krami AM, Charoute H, Elkarhat Z, Sifeddine N, Lakhiari H, Rouba H, Barakat A, Nahili H. Ait El Cadi C, et al. Biomed Res Int. 2020 Jul 25;2020:7614634. doi: 10.1155/2020/7614634. eCollection 2020. Biomed Res Int. 2020. PMID: 32775440 Free PMC article.

6

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Rodríguez-López C, García-Cárdaba LM, Blázquez A, Serrano-Lorenzo P, Gutiérrez-Gutiérrez G, San Millán-Tejado B, Muelas N, Hernández-Laín A, Vílchez JJ, Gutiérrez-Rivas E, Arenas J, Martín MA, Domínguez-González C. Rodríguez-López C, et al. J Med Genet. 2020 Sep;57(9):643-646. doi: 10.1136/jmedgenet-2019-106649. Epub 2020 Mar 11. J Med Genet. 2020. PMID: 32161153

7

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. Keshavan N, et al. Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29. Genet Med. 2020. PMID: 31462754 Free article.

8

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.

Iwanicka-Pronicka K, Ciara E, Piekutowska-Abramczuk D, Halat P, Pajdowska M, Pronicki M. Iwanicka-Pronicka K, et al. Int J Pediatr Otorhinolaryngol. 2019 Jun;121:143-149. doi: 10.1016/j.ijporl.2019.03.015. Epub 2019 Mar 16. Int J Pediatr Otorhinolaryngol. 2019. PMID: 30909120

9

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. Penque BA, et al. Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12. Eur J Med Genet. 2019. PMID: 30439532

10

Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs.

Nunez Lopez YO, Messi ML, Pratley RE, Zhang T, Delbono O. Nunez Lopez YO, et al. Exp Gerontol. 2018 Jul 15;108:35-40. doi: 10.1016/j.exger.2018.03.012. Epub 2018 Mar 27. Exp Gerontol. 2018. PMID: 29596868 Free PMC article.

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