191 related articles for article (PubMed ID: 31715429)
1. Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
Martinez-Turrillas R; Rodriguez-Diaz S; Rodriguez-Marquez P; Martin-Mallo A; Salido E; Beck BB; Prosper F; Rodriguez-Madoz JR
Stem Cell Res; 2019 Dec; 41():101626. PubMed ID: 31715429
[TBL] [Abstract][Full Text] [Related]
2. Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1.
Estève J; Blouin JM; Lalanne M; Azzi-Martin L; Dubus P; Bidet A; Harambat J; Llanas B; Moranvillier I; Bedel A; Moreau-Gaudry F; Richard E
Stem Cell Res; 2019 Jul; 38():101467. PubMed ID: 31151050
[TBL] [Abstract][Full Text] [Related]
3. A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
Li X; Gu J; Yang Y; Li J; Li Y
Tohoku J Exp Med; 2018 Dec; 246(4):233-241. PubMed ID: 30541997
[TBL] [Abstract][Full Text] [Related]
4. Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
Kanoun H; Jarraya F; Maalej B; Lahiani A; Mahfoudh H; Makni F; Hachicha J; Fakhfakh F
BMC Nephrol; 2017 Oct; 18(1):303. PubMed ID: 28969594
[TBL] [Abstract][Full Text] [Related]
5. Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Oppici E; Roncador A; Montioli R; Bianconi S; Cellini B
Biochim Biophys Acta; 2013 Dec; 1832(12):2277-88. PubMed ID: 24055001
[TBL] [Abstract][Full Text] [Related]
6. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Rumsby G; Williams E; Coulter-Mackie M
Kidney Int; 2004 Sep; 66(3):959-63. PubMed ID: 15327387
[TBL] [Abstract][Full Text] [Related]
7. A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
Kanoun H; Jarraya F; Hadj Salem I; Mahfoudh H; Chaabouni Y; Makni F; Hachicha J; Fakhfakh F
Gene; 2013 Dec; 531(2):451-6. PubMed ID: 24012869
[TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
Isiyel E; Ezgu SA; Caliskan S; Akman S; Akil I; Tabel Y; Akinci N; Ozdogan EB; Ozel A; Eroglu FK; Ezgu FS
Mol Genet Metab; 2016 Dec; 119(4):311-316. PubMed ID: 27915025
[TBL] [Abstract][Full Text] [Related]
9. S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Montioli R; Roncador A; Oppici E; Mandrile G; Giachino DF; Cellini B; Borri Voltattorni C
Hum Mol Genet; 2014 Nov; 23(22):5998-6007. PubMed ID: 24990153
[TBL] [Abstract][Full Text] [Related]
10. The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
Danpure CJ
J Nephrol; 1998; 11 Suppl 1():8-12. PubMed ID: 9604801
[TBL] [Abstract][Full Text] [Related]
11. Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
Estève J; Blouin JM; Lalanne M; Azzi-Martin L; Dubus P; Bidet A; Harambat J; Llanas B; Moranvillier I; Bedel A; Moreau-Gaudry F; Richard E
Biochem Biophys Res Commun; 2019 Oct; 517(4):677-683. PubMed ID: 31402115
[TBL] [Abstract][Full Text] [Related]
12. The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
Coulter-Mackie MB; Lian Q; Applegarth D; Toone J
Mol Genet Metab; 2005; 86(1-2):172-8. PubMed ID: 15963748
[TBL] [Abstract][Full Text] [Related]
13. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
Lumb MJ; Danpure CJ
J Biol Chem; 2000 Nov; 275(46):36415-22. PubMed ID: 10960483
[TBL] [Abstract][Full Text] [Related]
14. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
Fargue S; Lewin J; Rumsby G; Danpure CJ
J Biol Chem; 2013 Jan; 288(4):2475-84. PubMed ID: 23229545
[TBL] [Abstract][Full Text] [Related]
15. The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Dindo M; Mandrile G; Conter C; Montone R; Giachino D; Pelle A; Costantini C; Cellini B
Mol Genet Metab; 2020; 131(1-2):171-180. PubMed ID: 32792227
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG; Rossetti S; Schwanz HA; Olson JB; Lundquist PA; Dawson DB; Harris PC; Milliner DS
J Am Soc Nephrol; 2007 Jun; 18(6):1905-14. PubMed ID: 17460142
[TBL] [Abstract][Full Text] [Related]
17. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
von Schnakenburg C; Rumsby G
J Nephrol; 1998; 11 Suppl 1():15-7. PubMed ID: 9604803
[TBL] [Abstract][Full Text] [Related]
18. Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Nagara M; Tiar A; Ben Halim N; Ben Rhouma F; Messaoud O; Bouyacoub Y; Kefi R; Hassayoun S; Zouari N; Ben Ammar MS; Abdelhak S; Chemli J
Gene; 2013 Sep; 527(1):316-20. PubMed ID: 23810941
[TBL] [Abstract][Full Text] [Related]
19. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
Danpure CJ; Purdue PE; Fryer P; Griffiths S; Allsop J; Lumb MJ; Guttridge KM; Jennings PR; Scheinman JI; Mauer SM
Am J Hum Genet; 1993 Aug; 53(2):417-32. PubMed ID: 8101040
[TBL] [Abstract][Full Text] [Related]
20. [From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].
van Woerden CS; Groothof JW; Wanders RJ; Waterham HR; Wijburg FR
Ned Tijdschr Geneeskd; 2006 Jul; 150(30):1669-72. PubMed ID: 16922352
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]