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JCI Insight
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June 30, 2026
Reduced peroxisomal function increases insulin secretion, promotes insulin oxidation, and impairs β cell maturity
J Jason Collier, Caroline R Cothern, Maggie P Ducote, et al.
Blood
|
June 15, 2018
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Inga Hofmann, Mitchell J Geer, Timo Vögtle, et al.
Human Mutation
|
July 23, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
Matthew M Heeney, Simon Berhe, Dean R Campagna, et al.
Nature
|
November 9, 2012
Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts
Dhvanit I Shah, Naoko Takahashi-Makise, Jeffrey D Cooney, et al.
Cancer Cell
|
February 5, 2019
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion
Shanye Yin, Rutendo G Gambe, Jing Sun, et al.
Haematologica
|
July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
Blood
|
October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.
Blood
|
September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.
Med (New York, N.Y.)
|
March 5, 2021
Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection
Joe N Frost, Tiong Kit Tan, Munawar Abbas, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Page
of 21
Search research articles
Search
Showing results (191-200 of 203) with videos related to
Sort By:
Page
of 21
JCI Insight
|
June 30, 2026
Reduced peroxisomal function increases insulin secretion, promotes insulin oxidation, and impairs β cell maturity
J Jason Collier, Caroline R Cothern, Maggie P Ducote, et al.
Blood
|
June 15, 2018
Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
Inga Hofmann, Mitchell J Geer, Timo Vögtle, et al.
Human Mutation
|
July 23, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
Matthew M Heeney, Simon Berhe, Dean R Campagna, et al.
Nature
|
November 9, 2012
Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts
Dhvanit I Shah, Naoko Takahashi-Makise, Jeffrey D Cooney, et al.
Cancer Cell
|
February 5, 2019
A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion
Shanye Yin, Rutendo G Gambe, Jing Sun, et al.
Haematologica
|
July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
Blood
|
October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.
Blood
|
September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.
Med (New York, N.Y.)
|
March 5, 2021
Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection
Joe N Frost, Tiong Kit Tan, Munawar Abbas, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Page
of 21