208 related articles for article (PubMed ID: 1998338)
41. Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
Arranz JA; Piñol F; Kozak L; Pérez-Cerdá C; Cormand B; Ugarte M; Riudor E
Hum Mutat; 2002 Sep; 20(3):180-8. PubMed ID: 12203990
[TBL] [Abstract][Full Text] [Related]
42. Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1.
Matsubara Y; Kraus JP; Yang-Feng TL; Francke U; Rosenberg LE; Tanaka K
Proc Natl Acad Sci U S A; 1986 Sep; 83(17):6543-7. PubMed ID: 3462713
[TBL] [Abstract][Full Text] [Related]
43. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
Bergman AJ; van den Berg IE; Brink W; Poll-The BT; Ploos van Amstel JK; Berger R
Hum Mutat; 1998; 12(1):19-26. PubMed ID: 9633815
[TBL] [Abstract][Full Text] [Related]
44. Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.
Chen J; Sun J; Li X; Du M
BMC Med Genomics; 2022 Dec; 15(1):251. PubMed ID: 36463171
[TBL] [Abstract][Full Text] [Related]
45. Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.
Grompe M; al-Dhalimy M; Finegold M; Ou CN; Burlingame T; Kennaway NG; Soriano P
Genes Dev; 1993 Dec; 7(12A):2298-307. PubMed ID: 8253378
[TBL] [Abstract][Full Text] [Related]
46. [Localization of human sterol carrier protein 2 gene and cDNA expression in COS-7 cell].
Yamamoto R
Hokkaido Igaku Zasshi; 1992 Nov; 67(6):839-48. PubMed ID: 1483685
[TBL] [Abstract][Full Text] [Related]
47. Molecular cloning and expression of a cDNA encoding a protein detected by the K1 antibody from an ovarian carcinoma (OVCAR-3) cell line.
Chang K; Pastan I
Int J Cancer; 1994 Apr; 57(1):90-7. PubMed ID: 8150545
[TBL] [Abstract][Full Text] [Related]
48. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
Demers SI; Phaneuf D; Tanguay RM
Am J Hum Genet; 1994 Aug; 55(2):327-33. PubMed ID: 7913582
[TBL] [Abstract][Full Text] [Related]
49. Molecular cloning and characterization of cDNA encoding the alpha subunit of the rat protein synthesis initiation factor eIF-2B.
Flowers KM; Kimball SR; Feldhoff RC; Hinnebusch AG; Jefferson LS
Proc Natl Acad Sci U S A; 1995 May; 92(10):4274-8. PubMed ID: 7753796
[TBL] [Abstract][Full Text] [Related]
50. Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
Morrow G; Dreumont N; Bourrelle-Langlois M; Roy V; Tanguay RM
Mol Genet Metab; 2019 May; 127(1):58-63. PubMed ID: 30954369
[TBL] [Abstract][Full Text] [Related]
51. Tyrosinaemia type I--an update.
Kvittingen EA
J Inherit Metab Dis; 1991; 14(4):554-62. PubMed ID: 1749221
[TBL] [Abstract][Full Text] [Related]
52. Self-induced correction of the genetic defect in tyrosinemia type I.
Kvittingen EA; Rootwelt H; Berger R; Brandtzaeg P
J Clin Invest; 1994 Oct; 94(4):1657-61. PubMed ID: 7929843
[TBL] [Abstract][Full Text] [Related]
53. The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein.
Tan J; D'Agostaro AF; Bendiak B; Reck F; Sarkar M; Squire JA; Leong P; Schachter H
Eur J Biochem; 1995 Jul; 231(2):317-28. PubMed ID: 7635144
[TBL] [Abstract][Full Text] [Related]
54. In vivo correction of murine hereditary tyrosinemia type I by phiC31 integrase-mediated gene delivery.
Held PK; Olivares EC; Aguilar CP; Finegold M; Calos MP; Grompe M
Mol Ther; 2005 Mar; 11(3):399-408. PubMed ID: 15727936
[TBL] [Abstract][Full Text] [Related]
55. Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
Luijerink MC; van Beurden EA; Malingré HE; Jacobs SM; Grompe M; Klomp LW; Berger R; van den Berg IE
Kidney Int; 2004 Sep; 66(3):990-1000. PubMed ID: 15327392
[TBL] [Abstract][Full Text] [Related]
56. Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I.
Zhang L; Shao Y; Li L; Tian F; Cen J; Chen X; Hu D; Zhou Y; Xie W; Zheng Y; Ji Y; Liu M; Li D; Hui L
Sci Rep; 2016 Aug; 6():31460. PubMed ID: 27510266
[TBL] [Abstract][Full Text] [Related]
57. Cloning and expression of the murine gene and chromosomal location of the human gene encoding N-acetylglucosaminyltransferase I.
Kumar R; Yang J; Eddy RL; Byers MG; Shows TB; Stanley P
Glycobiology; 1992 Aug; 2(4):383-93. PubMed ID: 1421759
[TBL] [Abstract][Full Text] [Related]
58. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
Endo F; Kubo S; Awata H; Kiwaki K; Katoh H; Kanegae Y; Saito I; Miyazaki J; Yamamoto T; Jakobs C; Hattori S; Matsuda I
J Biol Chem; 1997 Sep; 272(39):24426-32. PubMed ID: 9305902
[TBL] [Abstract][Full Text] [Related]
59. Crystal structure and mechanism of a carbon-carbon bond hydrolase.
Timm DE; Mueller HA; Bhanumoorthy P; Harp JM; Bunick GJ
Structure; 1999 Sep; 7(9):1023-33. PubMed ID: 10508789
[TBL] [Abstract][Full Text] [Related]
60. cDNA cloning, molecular characterization, and chromosomal localization of NET(EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain.
Tang XX; Biegel JA; Nycum LM; Yoshioka A; Brodeur GM; Pleasure DE; Ikegaki N
Genomics; 1995 Sep; 29(2):426-37. PubMed ID: 8666391
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
