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 *

163 related articles for article (PubMed ID: 2122111)

  • 1. Phosphorylase b kinase deficiency in man: a review.
    Van den Berg IE; Berger R
    J Inherit Metab Dis; 1990; 13(4):442-51. PubMed ID: 2122111
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
    Maichele AJ; Burwinkel B; Maire I; Søvik O; Kilimann MW
    Nat Genet; 1996 Nov; 14(3):337-40. PubMed ID: 8896567
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Five cases of phosphorylase b kinase deficiency affecting muscle or liver: clinical symptoms and diagnosis].
    Fukuda T; Sugie H; Sugie Y; Ito M; Tsurui S; Igarashi Y
    No To Hattatsu; 1994 Nov; 26(6):493-7. PubMed ID: 7803079
    [TBL] [Abstract][Full Text] [Related]  

  • 4. X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice.
    Varsányi M; Vrbica A; Heilmeyer LM
    Biochem Genet; 1980 Apr; 18(3-4):247-61. PubMed ID: 7447922
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
    Burwinkel B; Maichele AJ; Aagenaes O; Bakker HD; Lerner A; Shin YS; Strachan JA; Kilimann MW
    Hum Mol Genet; 1997 Jul; 6(7):1109-15. PubMed ID: 9215682
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The molecular basis of skeletal muscle phosphorylase kinase deficiency.
    Cohen PT; Burchell A; Cohen P
    Eur J Biochem; 1976 Jul; 66(2):347-56. PubMed ID: 820556
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
    van den Berg IE; van Beurden EA; de Klerk JB; van Diggelen OP; Malingré HE; Boer MM; Berger R
    Am J Hum Genet; 1997 Sep; 61(3):539-46. PubMed ID: 9326319
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
    Wehner M; Clemens PR; Engel AG; Kilimann MW
    Hum Mol Genet; 1994 Nov; 3(11):1983-7. PubMed ID: 7874115
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic deficiencies of the glycogen phosphorylase system.
    Hendrickx J; Willems PJ
    Hum Genet; 1996 May; 97(5):551-6. PubMed ID: 8655128
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
    Burwinkel B; Moses SW; Kilimann MW
    Hum Genet; 1997 Dec; 101(2):170-4. PubMed ID: 9402963
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.
    Kilimann MW
    J Inherit Metab Dis; 1990; 13(4):435-41. PubMed ID: 2122110
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
    Waheed N; Saeed A; Ijaz S; Fayyaz Z; Anjum MN; Zahoor Y; Cheema HA
    J Pediatr Endocrinol Metab; 2020 Sep; 33(9):1117-1123. PubMed ID: 32697758
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phosphorylase kinase from chicken skeletal muscle. Quaternary structure, regulatory properties and partial proteolysis.
    Andreeva IE; Livanova NB; Eronina TB; Silonova GV; Poglazov BF
    Eur J Biochem; 1986 Jul; 158(1):99-106. PubMed ID: 3089780
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.
    Barnard PJ; Derry JM; Ryder-Cook AS; Zander NF; Kilimann MW
    Cytogenet Cell Genet; 1990; 53(2-3):91-4. PubMed ID: 1973380
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The abundance of calmodulin mRNAs is regulated in phosphorylase kinase-deficient skeletal muscle.
    Bender PK; Dedman JR; Emerson CP
    J Biol Chem; 1988 Jul; 263(20):9733-7. PubMed ID: 3384819
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
    Lederer B; Van Hoof F; Van den Berghe G; Hers H
    Biochem J; 1975 Apr; 147(1):23-35. PubMed ID: 168880
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phosphorylase kinase from rabbit skeletal muscle: identification of the calmodulin-binding subunits.
    Picton C; Klee CB; Cohen P
    Eur J Biochem; 1980 Oct; 111(2):553-61. PubMed ID: 6780343
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
    Burwinkel B; Hu B; Schroers A; Clemens PR; Moses SW; Shin YS; Pongratz D; Vorgerd M; Kilimann MW
    Eur J Hum Genet; 2003 Jul; 11(7):516-26. PubMed ID: 12825073
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
    Bashan N; Iancu TC; Lerner A; Fraser D; Potashnik R; Moses SW
    Pediatr Res; 1981 Apr; 15(4 Pt 1):299-303. PubMed ID: 6938920
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.
    Schneider A; Davidson JJ; Wüllrich A; Kilimann MW
    Nat Genet; 1993 Dec; 5(4):381-5. PubMed ID: 8298647
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.