Search Results - "ASTRIN, K. H"

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes by Ashton-Prolla, P, Tong, B, Shabbeer, J, Astrin, K H, Eng, C M, Desnick, R J

“…Fabry disease, an inborn error of glycosphingolipid catabolism, results from mutations in the X-chromosomal gene encoding the lysosomal exoglycosidase,…”
Get full text

Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation by TEZCAN, I, XU, W, DESNICK, R. J, GURGEY, A, TUNCER, M, CETIN, M, ÖNER, C, YETGIN, S, ERSOY, F, AIZENCANG, G, ASTRIN, K. H

“…The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent…”
Get full text

Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease by ENG, C. M, RESNICK-SILVERMAN, L. A, NIEHAUS, D. J, ASTRIN, K. H, DESNICK, R. J

“…Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22.1. To…”
Get full text

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease by Topaloglu, A K, Ashley, G A, Tong, B, Shabbeer, J, Astrin, K H, Eng, C M, Desnick, R J

“…Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase…”
Get full text

Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene by BERNSTEIN, H. S, BISHOP, D. F, ASTRIN, K. H, KORNREICH, R, ENG, C. M, SAKURABA, H, DESNICK, R. J

“…Fabry disease, an X-linked recessive disorder of glycosphingolipid catabolism, results from the deficient activity of the lysosomal hydrolase,…”
Get full text

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles by Mendez, Manuel, Sorkin, Lonnie, Rossetti, Maria Victoria, Astrin, Kenneth H., Batlle, Alcira M. del C., Parera, Victoria E., Aizencang, Gerardo, Desnick, Robert J.

“…Familial porphyria cutanea tarda (f-PCT) results from the half-normal activity of uroporphyrinogen decarboxylase (URO-D). Heterozygotes for this autosomal…”
Get full text

Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP) by Solis, C, Lopez-Echaniz, I, Sefarty-Graneda, D, Astrin, K H, Desnick, R J

“…Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme…”
Get full text

Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroid Cells by Kauppinen, R., Glass, I.A., Aizencang, G., Astrin, K.H., Atweh, G.F., Desnick, R.J.

“…Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme…”
Get full text

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria by Solis, C, Aizencang, G I, Astrin, K H, Bishop, D F, Desnick, R J

“…Congenital erythropoietic porphyria, an autosomal recessive inborn error of heme biosynthesis, results from the markedly deficient activity of uroporphyrinogen…”
Get full text

delta-Aminolevulinic acid dehydratase isozymes and lead toxicity by Astrin, K H, Bishop, D F, Wetmur, J G, Kaul, B, Davidow, B, Desnick, R J

“…ALAD is a zinc metalloenzyme whose inhibition by lead is the first and most sensitive indicator of lead exposure and whose decreased activity has been…”
Get more information

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A by Kornreich, R, Astrin, K H, Desnick, R J

“…Methods for the PCR amplification of five polymorphic sites in the region Xq21.33 to Xq24 were developed and used to predict heterozygosity for Fabry disease…”
Get more information

Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3 by ASTRIN, K. H, WARNER, C. A, HAN-WOOK YOO, GOODFELLOW, P. J, SHIH-FENG TSAI, DESNICK, R. J

“…Uroporphyrinogen III synthase [UROS; hydroxymethylbilane hydro-lyase (cyclizing), EC 4.2.1.75] is the fourth enzyme in the human heme biosynthetic pathway. The…”
Get full text

Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis by Darlington, G J, Astrin, K H, Muirhead, S P, Desnick, R J, Smith, M

“…Human alpha 1-antitrypsin ( alpha-1-AT;Pi) production was analyzed in 11 primary mouse hepatoma-human lymphoid cell hybrids and in 14 secondary rat…”
Get full text

Regional Assignment of the Structural Gene for Human α -L-iduronidase by Schuchman, Edward H., Astrin, Kenneth H., Aula, Pertti, Desnick, Robert J.

“…The structural gene encoding human α -L-iduronidase has been assigned to chromosome 22 by using immunologic, electrophoretic, and somatic cell hybridization…”
Get full text

Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene by Aizencang, G I, Bishop, D F, Forrest, D, Astrin, K H, Desnick, R J

“…Uroporphyrinogen III synthase (URO-synthase, EC 4.2.1.75) is the fourth enzyme of the heme biosynthetic pathway and is the defective enzyme in congenital…”
Get full text

Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter) by Aula, P, Astrin, K H, Francke, U, Desnick, R J

“…The structural gene for the human lysosomal enzyme aspartylglucosaminidase (AGA) has been assigned to chromosome 4 using somatic cell hybridization techniques…”
Get full text

Molecular genetics of congenital erythropoietic porphyria by Desnick, R J, Glass, I A, Xu, W, Solis, C, Astrin, K H

“…Congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis, results from the markedly deficient activity of the…”
Get more information

Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome by Bishop, D F, Henderson, A S, Astrin, K H

“…delta-Aminolevulinate synthase (ALAS) catalyzes the first committed step of heme biosynthesis. Previous studies suggested that there were erythroid and…”
Get more information

Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme by Chen, C H, Astrin, K H, Lee, G, Anderson, K E, Desnick, R J

“…Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme,…”
Get full text

Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene by Xu, Weiming, Astrin, Kenneth H., Desnick, Robert J.

“…Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of the fourth…”
Get full text