David F Bishop
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Explore the profile of David F Bishop including associated specialties, affiliations and a list of published articles.
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25
Citations
339
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Recent Articles
1.
Bailey H, Bezerra G, Marcero J, Padhi S, Foster W, Rembeza E, et al.
Nat Commun
. 2020 Jun;
11(1):2813.
PMID: 32499479
5'-aminolevulinate synthase (ALAS) catalyzes the first step in heme biosynthesis, generating 5'-aminolevulinate from glycine and succinyl-CoA. Inherited frameshift indel mutations of human erythroid-specific isozyme ALAS2, within a C-terminal (Ct) extension...
2.
Sankaran V, Ulirsch J, Tchaikovskii V, Ludwig L, Wakabayashi A, Kadirvel S, et al.
J Clin Invest
. 2020 Jan;
130(1):552.
PMID: 31895053
No abstract available.
3.
Tchaikovskii V, Desnick R, Bishop D
Mol Med
. 2019 Jan;
25(1):4.
PMID: 30678654
Background: X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate...
4.
Katz S, Backeris P, Merck C, Suprun M, DSouza S, Bishop D, et al.
PLoS One
. 2018 Oct;
13(10):e0203597.
PMID: 30289930
Research in photobiology is currently limited by a lack of devices capable of delivering precise and tunable irradiation to cells in a high-throughput format. This limits researchers to using expensive...
5.
Sankaran V, Ulirsch J, Tchaikovskii V, Ludwig L, Wakabayashi A, Kadirvel S, et al.
J Clin Invest
. 2015 Feb;
125(4):1665-9.
PMID: 25705881
Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic...
6.
Clavero S, Ahuja Y, Bishop D, Kwait B, Haskins M, Giger U, et al.
Vet J
. 2013 Nov;
198(3):720-2.
PMID: 24239138
Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. In this study, detailed biochemical and...
7.
Balwani M, Doheny D, Bishop D, Nazarenko I, Yasuda M, Dailey H, et al.
Mol Med
. 2013 Feb;
19:26-35.
PMID: 23364466
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and...
8.
Bishop D, Tchaikovskii V, Nazarenko I, Desnick R
Mol Med
. 2013 Jan;
19:18-25.
PMID: 23348515
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2). Previously, two exon 11 small deletions, c.1699_1670ΔAT (ΔAT)...
9.
Bishop D, Tchaikovskii V, Hoffbrand A, Fraser M, Margolis S
J Biol Chem
. 2012 Jun;
287(34):28943-55.
PMID: 22740690
Mutations in the erythroid-specific aminolevulinic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial enzymatic activity. Surprisingly, a patient with the classic XLSA phenotype had a novel...
10.
Camacho-Vanegas O, Camacho S, Till J, Miranda-Lorenzo I, Terzo E, Ramirez M, et al.
Am J Hum Genet
. 2012 Apr;
90(4):614-27.
PMID: 22464254
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal-dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. We previously mapped the DMS-MFH tumor-suppressing-gene locus to chromosomal region...