Babette Gwynn

Jackson Laboratory — United States

Medicine · Health Sciences

26h-index3.9kcitations52works0.02yr avg
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Research Topics

Erythrocyte Function and Pathophysiology(22), Hemoglobinopathies and Related Disorders(11), Lysosomal Storage Disorders Research(9), Pancreatic function and diabetes(7), melanin and skin pigmentation(4)

Publications52 total

Differential effects of RASA3 mutations on hematopoiesis are profoundly influenced by genetic background and molecular variant
PLoS Genetics·2020· 3 citedOpen Access
Differential Effects of RASA3 Mutations on Hematopoiesis are Profoundly Influenced by Genetic Background and Molecular Variant
2020· 1 citedOpen Access
TMEM14C is required for erythroid mitochondrial heme metabolism
Journal of Clinical Investigation·2014· 74 citedOpen Access
Iron regulatory protein-1 protects against mitoferrin-1-deficient porphyria.
Journal of Biological Chemistry·2014· 3 citedOpen Access
Iron Regulatory Protein-1 Protects against Mitoferrin-1-deficient Porphyria
Journal of Biological Chemistry·2014· 40 citedOpen Access
Tmem14c Plays An Essential Role In Mitochondrial Heme Metabolism
Blood·2013· 2 cited
Critical function for the Ras-GTPase activating protein RASA3 in vertebrate erythropoiesis and megakaryopoiesis
Proceedings of the National Academy of Sciences·2012· 32 citedOpen Access
Failure of Erythropoiesis and Megakaryocytopoiesis in RASA3 Mutant Scat Mice
Blood·2011
Identification of Distal <i>cis</i>-Regulatory Elements at Mouse Mitoferrin Loci Using Zebrafish Transgenesis
Molecular and Cellular Biology·2011· 44 citedOpen Access
Targeted deletion of βIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes
Proceedings of the National Academy of Sciences·2010· 78 citedOpen Access
Positional Cloning of the Mouse Scat Mutation Reveals a Critical Role for RASA3, a Ras GTPase Activating Protein, in Vertebrate Erythropoiesis.
Blood·2009
Targeted deletion of α-adducin results in absent β- and γ-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice
Blood·2008· 69 citedOpen Access
Targeted Deletion of α-Adducin Results in Absent β-Adducin, Compensated Hemolytic Anemia, and Hydrocephalus in Mice.
Blood·2007· 1 cited
Targeted Disruption of the Mouse Mitoferrin (Slc25A37) Mitochondrial Solute Carrier Results in Defective Primitive and Definitive Erythropoiesis.
Blood·2006· 6 cited
Absence of Erythroblast Macrophage Protein (Emp) Leads to Failure of Erythroblast Nuclear Extrusion
Journal of Biological Chemistry·2006· 151 citedOpen Access
A mouse TRAPP-related protein is involved in pigmentation
Genomics·2006· 26 cited
Mitoferrin is essential for erythroid iron assimilation
Nature·2006· 613 cited
Two New Recessive Mouse Mutations Cause Severe Hemolytic Anemia and Reveal Unexpected Interactions in the C-Terminus of α-Spectrin.
Blood·2005
Emp Null Mice Are Non-Viable and Exhibit Erythroid Differentiation Defect.
Blood·2005· 2 cited
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex
Blood·2004· 54 citedOpen Access
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Frequent Co-authors

Luanne L. Peters(32), Amy J. Lambert(11), Steven L. Ciciotte(11), E H Birkenmeier(10), Barry H. Paw(10), Raymond F. Robledo(9), Jerry Kaplan(7), Samuel E. Lux(7), Kenneth E. Sahr(7), Liangtao Li(5), Carole Vogler(5), Kimberly A. Lyford(5), George Shaw(4), Narla Mohandas(4), Mark S. Sands(4), Beth Levy(4), Diana M. Gilligan(4), Juan S. Bonifacino(4), Jeffrey D. Cooney(4), Thorsten M. Schlaeger(4)