These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

132 related articles for article (PubMed ID: 2263616)

  • 21. Use of continuous hemodiafiltration for the treatment of a neonate with hyperammonemia secondary to argininosuccinate lyase (ASAL) deficiency.
    Raturi S; Venkatesh IH; Nagesh NK; Venkatagiri P
    Indian J Pediatr; 2013 Sep; 80(9):794-5. PubMed ID: 23539248
    [No Abstract]   [Full Text] [Related]  

  • 22. Structure of the rat argininosuccinate lyase gene: close similarity to chicken delta-crystallin genes.
    Matsubasa T; Takiguchi M; Amaya Y; Matsuda I; Mori M
    Proc Natl Acad Sci U S A; 1989 Jan; 86(2):592-6. PubMed ID: 2789519
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
    Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
    Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
    Kobayashi K; Jackson MJ; Tick DB; O'Brien WE; Beaudet AL
    J Biol Chem; 1990 Jul; 265(19):11361-7. PubMed ID: 2358466
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Argininosuccinic aciduria: assignment of the argininosuccinate lyase gene to the pter to q22 region of human chromosome 7 by bioautography.
    Naylor SL; Klebe RJ; Shows TB
    Proc Natl Acad Sci U S A; 1978 Dec; 75(12):6159-62. PubMed ID: 282632
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Characterization of a splicing mutation in group A xeroderma pigmentosum.
    Satokata I; Tanaka K; Miura N; Miyamoto I; Satoh Y; Kondo S; Okada Y
    Proc Natl Acad Sci U S A; 1990 Dec; 87(24):9908-12. PubMed ID: 1702221
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL; Gelbart T; West C; Halloran C; Beutler E
    Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
    Balmer C; Pandey AV; Rüfenacht V; Nuoffer JM; Fang P; Wong LJ; Häberle J
    Hum Mutat; 2014 Jan; 35(1):27-35. PubMed ID: 24166829
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular evolution from argininosuccinate lyase to delta-crystallin.
    Mori M; Matsubasa T; Amaya Y; Takiguchi M
    Prog Clin Biol Res; 1990; 344():683-99. PubMed ID: 2203059
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.
    Kadowaki T; Kadowaki H; Taylor SI
    Proc Natl Acad Sci U S A; 1990 Jan; 87(2):658-62. PubMed ID: 2300553
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Biochemical characterization of argininosuccinate lyase from M. tuberculosis: significance of a c-terminal cysteine in catalysis and thermal stability.
    Mishra A; Surolia A
    IUBMB Life; 2017 Nov; 69(11):896-907. PubMed ID: 29044950
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.
    Tromp G; Prockop DJ
    Proc Natl Acad Sci U S A; 1988 Jul; 85(14):5254-8. PubMed ID: 2839839
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
    Ookawara T; Davé V; Willems P; Martin JJ; de Barsy T; Matthys E; Yoshida A
    Arch Biochem Biophys; 1996 Mar; 327(1):35-40. PubMed ID: 8615693
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
    Miric A; Vechio JD; Levine MA
    J Clin Endocrinol Metab; 1993 Jun; 76(6):1560-8. PubMed ID: 8388883
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cloning and sequence analysis of cDNA for human argininosuccinate lyase.
    O'Brien WE; McInnes R; Kalumuck K; Adcock M
    Proc Natl Acad Sci U S A; 1986 Oct; 83(19):7211-5. PubMed ID: 3463959
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
    Graham IR; Hill VJ; Manoharan M; Inamati GB; Dickson G
    J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.
    Duff C; Islam M; Gagliano O; Pramod H; Rashidi H; Kurian MA; Gissen P; Baruteau J
    Stem Cell Res; 2024 Apr; 76():103365. PubMed ID: 38422816
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E; Salviati L; Baldoin MC; Casarin A; Basso G; Burlina A
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846632
    [No Abstract]   [Full Text] [Related]  

  • 39. Gene symbol: ASL. Disease: Argininosuccinate lyase deficiency.
    Trevisson E; Salviati L; Baldoin MC; Casarin A; Basso G; Burlina A
    Hum Genet; 2008 Oct; 124(3):303. PubMed ID: 18846631
    [No Abstract]   [Full Text] [Related]  

  • 40. cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.
    Todd S; McGill JR; McCombs JL; Moore CM; Weider I; Naylor SL
    Genomics; 1989 Jan; 4(1):53-9. PubMed ID: 2644168
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.