Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes

Por Bishop, David F, Clavero, Sonia, Mohandas, Narla, Desnick, Robert J
Publicado em 2011

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

Por Bishop, David F, Tchaikovskii, Vassili, Nazarenko, Irina, Desnick, Robert J
Publicado em 2013

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Por Clavero, Sonia, Bishop, David F, Giger, Urs, Haskins, Mark E, Desnick, Robert J
Publicado em 2010

X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the β-Subunit of Succinyl-CoA Synthetase (SUCLA2)

Por Bishop, David F., Tchaikovskii, Vassili, Hoffbrand, A. Victor, Fraser, Marie E., Margolis, Steven
Publicado em 2012

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

Por Solis, Constanza, Aizencang, Gerardo I., Astrin, Kenneth H., Bishop, David F., Desnick, Robert J.
Publicado em 2001

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

Por Clavero, Sonia, Bishop, David F., Haskins, Mark E., Giger, Urs, Kauppinen, Raili, Desnick, Robert J.
Publicado em 2010

AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function

Por Yasuda, Makiko, Bishop, David F, Fowkes, Mary, Cheng, Seng H, Gan, Lin, Desnick, Robert J
Publicado em 2009

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Por Bishop, David F., Schneider-Yin, Xiaoye, Clavero, Sonia, Yoo, Han-Wook, Minder, Elisabeth I., Desnick, Robert J.
Publicado em 2010

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses

Por Clavero, Sonia, Ahuja, Yuri, Bishop, David F., Kwait, Brittany, Haskins, Mark E., Giger, Urs, Desnick, Robert J.
Publicado em 2013

Uroporphyrinogen III Synthase Knock-In Mice Have the Human Congenital Erythropoietic Porphyria Phenotype, Including the Characteristic Light-Induced Cutaneous Lesions

Por Bishop, David F., Johansson, Annika, Phelps, Robert, Shady, Amr A., Ramirez, Maria C. M., Yasuda, Makiko, Caro, Andres, Desnick, Robert J.
Publicado em 2006

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

Por Sankaran, Vijay G., Ulirsch, Jacob C., Tchaikovskii, Vassili, Ludwig, Leif S., Wakabayashi, Aoi, Kadirvel, Senkottuvelan, Lindsley, R. Coleman, Bejar, Rafael, Shi, Jiahai, Lovitch, Scott B., Bishop, David F., Steensma, David P.
Publicado no J Clin Invest (2015)

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in No...

Por Balwani, Manisha, Doheny, Dana, Bishop, David F, Nazarenko, Irina, Yasuda, Makiko, Dailey, Harry A, Anderson, Karl E, Bissell, D Montgomery, Bloomer, Joseph, Bonkovsky, Herbert L, Phillips, John D, Liu, Lawrence, Desnick, Robert J
Publicado em 2013

Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts

Por Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Till, Jacob, Miranda-Lorenzo, Irene, Terzo, Esteban, Ramirez, Maria Celeste, Schramm, Vern, Cordovano, Grace, Watts, Giles, Mehta, Sarju, Kimonis, Virginia, Hoch, Benjamin, Philibert, Keith D., Raabe, Carsten A., Bishop, David F., Glucksman, Marc J., Martignetti, John A.
Publicado em 2012