193 related articles for article (PubMed ID: 29302025)
1. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL; Chéry C; Oussalah A; Nadaf J; Coelho D; Josse T; Flayac J; Robert A; Koscinski I; Gastin I; Filhine-Tresarrieu P; Pupavac M; Brebner A; Watkins D; Pastinen T; Montpetit A; Hariri F; Tregouët D; Raby BA; Chung WK; Morange PE; Froese DS; Baumgartner MR; Benoist JF; Ficicioglu C; Marchand V; Motorin Y; Bonnemains C; Feillet F; Majewski J; Rosenblatt DS
Nat Commun; 2018 Jan; 9(1):67. PubMed ID: 29302025
[TBL] [Abstract][Full Text] [Related]
2. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C; Oussalah A; Falliano S; Ferri L; Gozzini A; Gasperini S; Motta S; Rigoldi M; Parenti G; Tummolo A; Meli C; Menni F; Furlan F; Daniotti M; Malvagia S; la Marca G; Chery C; Morange PE; Tregouet D; Donati MA; Guerrini R; Guéant JL; Morrone A
Clin Epigenetics; 2021 Jul; 13(1):137. PubMed ID: 34215320
[TBL] [Abstract][Full Text] [Related]
3. Epimutation of MMACHC compound to a genetic mutation in cblC cases.
Zhang X; Chen Q; Song Y; Guo P; Wang Y; Luo S; Zhang Y; Zhou C; Li D; Chen Y; Wei H
Mol Genet Genomic Med; 2021 Jun; 9(6):e1625. PubMed ID: 33982424
[TBL] [Abstract][Full Text] [Related]
4. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B
Oussalah A; Siblini Y; Hergalant S; Chéry C; Rouyer P; Cavicchi C; Guerrini R; Morange PE; Trégouët D; Pupavac M; Watkins D; Pastinen T; Chung WK; Ficicioglu C; Feillet F; Froese DS; Baumgartner MR; Benoist JF; Majewski J; Morrone A; Rosenblatt DS; Guéant JL
Clin Epigenetics; 2022 Apr; 14(1):52. PubMed ID: 35440018
[TBL] [Abstract][Full Text] [Related]
5. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL; Chéry C; Oussalah A; Nadaf J; Coelho D; Josse T; Flayac J; Robert A; Koscinski I; Gastin I; Filhine-Tresarrieu P; Pupavac M; Brebner A; Watkins D; Pastinen T; Montpetit A; Hariri F; Tregouët D; Raby BA; Chung WK; Morange PE; Froese DS; Baumgartner MR; Benoist JF; Ficicioglu C; Marchand V; Motorin Y; Bonnemains C; Feillet F; Majewski J; Rosenblatt DS
Nat Commun; 2018 Feb; 9(1):554. PubMed ID: 29396438
[TBL] [Abstract][Full Text] [Related]
6. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF; Lerner-Ellis JP; Rosenblatt DS
Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
[TBL] [Abstract][Full Text] [Related]
7. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
Froese DS; Zhang J; Healy S; Gravel RA
Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Zong Y; Liu N; Zhao Z; Kong X
BMC Med Genet; 2015 Jul; 16():48. PubMed ID: 26149271
[TBL] [Abstract][Full Text] [Related]
9. Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
Gündüz M; Ekici F; Özaydın E; Ceylaner S; Perez B
Eur J Pediatr; 2014 Dec; 173(12):1707-10. PubMed ID: 24853097
[TBL] [Abstract][Full Text] [Related]
10. Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
Guéant JL; Siblini Y; Chéry C; Schmitt G; Guéant-Rodriguez RM; Coelho D; Watkins D; Rosenblatt DS; Oussalah A
Hum Genet; 2022 Jul; 141(7):1309-1325. PubMed ID: 35190856
[TBL] [Abstract][Full Text] [Related]
11. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
Chang JT; Chen YY; Liu TT; Liu MY; Chiu PC
Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
[TBL] [Abstract][Full Text] [Related]
12. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP; Tirone JC; Pawelek PD; Doré C; Atkinson JL; Watkins D; Morel CF; Fujiwara TM; Moras E; Hosack AR; Dunbar GV; Antonicka H; Forgetta V; Dobson CM; Leclerc D; Gravel RA; Shoubridge EA; Coulton JW; Lepage P; Rommens JM; Morgan K; Rosenblatt DS
Nat Genet; 2006 Jan; 38(1):93-100. PubMed ID: 16311595
[TBL] [Abstract][Full Text] [Related]
13. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.
Paz D; Pinales BE; Castellanos BS; Perez I; Gil CB; Madrigal LJ; Reyes-Nava NG; Castro VL; Sloan JL; Quintana AM
Differentiation; 2023; 131():74-81. PubMed ID: 37167860
[TBL] [Abstract][Full Text] [Related]
14. Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Pupavac M; Watkins D; Petrella F; Fahiminiya S; Janer A; Cheung W; Gingras AC; Pastinen T; Muenzer J; Majewski J; Shoubridge EA; Rosenblatt DS
Hum Mutat; 2016 Sep; 37(9):976-82. PubMed ID: 27349184
[TBL] [Abstract][Full Text] [Related]
15. Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.
Loewy AD; Niles KM; Anastasio N; Watkins D; Lavoie J; Lerner-Ellis JP; Pastinen T; Trasler JM; Rosenblatt DS
Mol Genet Metab; 2009 Apr; 96(4):261-7. PubMed ID: 19200761
[TBL] [Abstract][Full Text] [Related]
16. Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Fofou-Caillierez MB; Mrabet NT; Chéry C; Dreumont N; Flayac J; Pupavac M; Paoli J; Alberto JM; Coelho D; Camadro JM; Feillet F; Watkins D; Fowler B; Rosenblatt DS; Guéant JL
Hum Mol Genet; 2013 Nov; 22(22):4591-601. PubMed ID: 23825108
[TBL] [Abstract][Full Text] [Related]
17. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
Wang J; Li E; Wang L; Wang Z; Yang S; Zhou Q; Chen Q
Int J Clin Exp Pathol; 2015; 8(8):9337-41. PubMed ID: 26464686
[TBL] [Abstract][Full Text] [Related]
18. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria].
Tang H; Hao H; Tang SH; Chen X; Liu F; Cha QB; Li YQ; Li HJ; Sun L; Yu M; Xiao X; Zhou TH
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):62-5. PubMed ID: 19199254
[TBL] [Abstract][Full Text] [Related]
19. MMACHC gene mutation in familial hypogonadism with neurological symptoms.
Shi C; Shang D; Sun S; Mao C; Qin J; Luo H; Shao M; Chen Z; Liu Y; Liu X; Song B; Xu Y
Gene; 2015 Dec; 574(2):380-4. PubMed ID: 26283149
[TBL] [Abstract][Full Text] [Related]
20. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Collison FT; Xie YA; Gambin T; Jhangiani S; Muzny D; Gibbs R; Lupski JR; Fishman GA; Allikmets R
Ophthalmic Genet; 2015; 36(3):270-5. PubMed ID: 25687216
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
