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Items: 1 to 20 of 45

1.

Quantitative gene expression profiles in real time from expressed sequence tag databases.

Funari VA, Voevodski K, Leyfer D, Yerkes L, Cramer D, Tolan DR.

Gene Expr. 2010;14(6):321-36.

2.

Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population.

Coffee EM, Yerkes L, Ewen EP, Zee T, Tolan DR.

J Inherit Metab Dis. 2010 Feb;33(1):33-42. doi: 10.1007/s10545-009-9008-7. Epub 2009 Dec 23.

3.

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.

Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J.

BMC Med Genet. 2009 Mar 24;10:29. doi: 10.1186/1471-2350-10-29.

4.

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

Silva AL, Romão L.

FEBS Lett. 2009 Feb 4;583(3):499-505. doi: 10.1016/j.febslet.2008.12.058. Epub 2009 Jan 20. Review.

5.

Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense?

McGlincy NJ, Smith CW.

Trends Biochem Sci. 2008 Aug;33(8):385-93. doi: 10.1016/j.tibs.2008.06.001. Epub 2008 Jul 11. Review.

PMID:
18621535
6.

Protein synthesis in eukaryotes: the growing biological relevance of cap-independent translation initiation.

López-Lastra M, Rivas A, Barría MI.

Biol Res. 2005;38(2-3):121-46. Review.

7.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt HG, Steinmann B, Schneppenheim R.

Hum Mutat. 2005 Jun;25(6):594.

PMID:
15880727
8.

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F.

Hum Mutat. 2004 Dec;24(6):534.

PMID:
15532022
9.

Hereditary fructose intolerance. An inborn defect of hepatic fructose-1-phosphate splitting aldolase.

FROESCH ER, WOLF HP, BAITSCH H, PRADER A, LABHART A.

Am J Med. 1963 Feb;34:151-67. No abstract available.

PMID:
13959929
10.

[Anomaly of hepatic aldolase in intolerance to fructose].

HERS HG, JOASSIN G.

Enzymol Biol Clin (Basel). 1961;1:4-14. French. No abstract available.

PMID:
13906876
11.

Pre-mRNA splicing and human disease.

Faustino NA, Cooper TA.

Genes Dev. 2003 Feb 15;17(4):419-37. Review. No abstract available.

12.
13.

Identification of conserved promoter elements for aldB and isozyme specific residues in aldolase B.

Berardini TZ, Amsden AB, Penhoet EE, Tolan DR.

Comp Biochem Physiol B Biochem Mol Biol. 1999 Jan;122(1):53-61.

PMID:
10327593
14.

Characterization of the aldolase B intronic enhancer.

Gregori C, Porteu A, Lopez S, Kahn A, Pichard AL.

J Biol Chem. 1998 Sep 25;273(39):25237-43.

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17.

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, Busfield F, Lendon C, Clark RF, et al.

Neuroreport. 1995 Dec 29;7(1):297-301.

PMID:
8742474
19.

Iatrogenic deaths in hereditary fructose intolerance.

Cox TM.

Arch Dis Child. 1993 Oct;69(4):413-5. No abstract available.

20.

Ubiquitous factors that interact simultaneously with two distinct cis-elements on the rat aldolase B gene promoter.

Yabuki T, Ejiri S, Tsutsumi K.

Biochim Biophys Acta. 1993 Oct 19;1216(1):15-9.

PMID:
8218407

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