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Items: 1 to 20 of 130

1.

Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase.

Matsuura S, Igarashi M, Tanizawa Y, Yamada M, Kishi F, Kajii T, Fujii H, Miwa S, Sakurai M, Nakazawa A.

J Biol Chem. 1989 Jun 15;264(17):10148-55.

PMID:
2542324
2.

Gene structures of three vertebrate adenylate kinase isozymes.

Nakazawa A, Yamada M, Tanaka H, Shahjahan M, Tanabe T.

Prog Clin Biol Res. 1990;344:495-514.

PMID:
2168054
3.

Structure and complete nucleotide sequence of the gene encoding chicken cytosolic adenylate kinase.

Suminami Y, Kishi F, Torigoe T, Nakazawa A.

J Biochem. 1988 Apr;103(4):611-7.

4.

Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Abrusci P, Chiarelli LR, Galizzi A, Fermo E, Bianchi P, Zanella A, Valentini G.

Exp Hematol. 2007 Aug;35(8):1182-9.

PMID:
17662886
5.

Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.

Qualtieri A, Pedace V, Bisconte MG, Bria M, Gulino B, Andreoli V, Brancati C.

Br J Haematol. 1997 Dec;99(4):770-6.

PMID:
9432020
6.

A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.

Fermo E, Bianchi P, Vercellati C, Micheli S, Marcello AP, Portaleone D, Zanella A.

Blood Cells Mol Dis. 2004 Sep-Oct;33(2):146-9.

PMID:
15315793
7.

Metabolic compensation for profound erythrocyte adenylate kinase deficiency. A hereditary enzyme defect without hemolytic anemia.

Beutler E, Carson D, Dannawi H, Forman L, Kuhl W, West C, Westwood B.

J Clin Invest. 1983 Aug;72(2):648-55.

8.

Cloning and sequencing of the adenylate kinase gene (adk) of Escherichia coli.

Brune M, Schumann R, Wittinghofer F.

Nucleic Acids Res. 1985 Oct 11;13(19):7139-51.

9.

A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia.

Bianchi P, Zappa M, Bredi E, Vercellati C, Pelissero G, Barraco F, Zanella A.

Br J Haematol. 1999 Apr;105(1):75-9.

PMID:
10233365
11.

Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.

Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K.

Proc Natl Acad Sci U S A. 1987 Dec;84(23):8623-7.

12.

Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?

Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR.

Blood. 1991 Jun 15;77(12):2774-84.

13.

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

van Wijk R, van Solinge WW, Nerlov C, Beutler E, Gelbart T, Rijksen G, Nielsen FC.

Blood. 2003 Feb 15;101(4):1596-602. Epub 2002 Sep 26.

15.

Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia: clinical and biochemical studies.

Miwa S, Fujii H, Tani K, Takahashi K, Takizawa T, Igarashi T.

Am J Hematol. 1983 Jun;14(4):325-33.

PMID:
6305188
16.

Molecular aspects of erythroenzymopathies associated with hereditary hemolytic anemia.

Miwa S, Fujii H.

Am J Hematol. 1985 Jul;19(3):293-305. Review.

PMID:
2990202
17.

Isolation and characterization of cDNA for chicken muscle adenylate kinase.

Kishi F, Maruyama M, Tanizawa Y, Nakazawa A.

J Biol Chem. 1986 Feb 25;261(6):2942-5.

PMID:
2419325
18.

Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong.

Kanno H, Wei DC, Chan LC, Mizoguchi H, Ando M, Nakahata T, Narisawa K, Fujii H, Miwa S.

Blood. 1994 Nov 15;84(10):3505-9.

19.
20.

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.

PMID:
9642100

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