相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Global transcriptome analyses of human and murine terminal erythroid differentiation
Xiuli An et al.
BLOOD (2014)
Transcriptional divergence and conservation of human and mouse erythropoiesis
Novalia Pishesha et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II
Roberta Russo et al.
BLOOD CELLS MOLECULES AND DISEASES (2013)
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis
Timothy J. Satchwell et al.
HAEMATOLOGICA (2013)
Disruption of the Sec24d Gene Results in Early Embryonic Lethality in the Mouse
Andrea C. Baines et al.
PLOS ONE (2013)
SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion
Xiao-Wei Chen et al.
ELIFE (2013)
A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively
Gang Liu et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
COPII and the regulation of protein sorting in mammals
Giulia Zanetti et al.
NATURE CELL BIOLOGY (2012)
SEC23B is required for the maintenance of murine professional secretory tissues
Jiayi Tao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II
Achiya Amir et al.
ACTA HAEMATOLOGICA (2011)
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population
Roberta Russo et al.
AMERICAN JOURNAL OF HEMATOLOGY (2011)
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis
Michael R. Hughes et al.
EXPERIMENTAL HEMATOLOGY (2011)
Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
Francesca Punzo et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC238 gene
Roberta Russo et al.
AMERICAN JOURNAL OF HEMATOLOGY (2010)
CDAII presenting as hydrops foetalis: Molecular characterization of two cases
Elisa Fermo et al.
BLOOD CELLS MOLECULES AND DISEASES (2010)
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship
Achille Iolascon et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure
Janna Merte et al.
NATURE CELL BIOLOGY (2010)
Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor
Miroslawa Siatecka et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction
Michael L. Chen et al.
BLOOD (2009)
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis
Achille Iolascon et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2009)
Congenital Dyserythropoietic Anemia Type II (CDAII) is Caused by Mutations in the SEC23B Gene
Paola Bianchi et al.
HUMAN MUTATION (2009)
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
Klaus Schwarz et al.
NATURE GENETICS (2009)
Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis
Ke Chen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Hematopoiesis: An evolving paradigm for stem cell biology
Stuart H. Orkin et al.
CELL (2008)
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Karin E. Finberg et al.
NATURE GENETICS (2008)
The genetic basis of a craniofacial disease provides insight into COPII coat assembly
J. Christopher Fromme et al.
DEVELOPMENTAL CELL (2007)
TRAPPI tethers COPII vesicles by binding the coat subunit Sec23
Huaqing Cai et al.
NATURE (2007)
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulumto-Golgi trafficking
Simeon A. Boyadjiev et al.
NATURE GENETICS (2006)
Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation
Michael R. Lang et al.
NATURE GENETICS (2006)
SLAM family receptors distinguish hematopoietic stem and progenitor cells and reveal endothelial niches for stem cells
MJ Kiel et al.
CELL (2005)
Coupling of ER exit to microtubules through direct interaction of COPII with dynactin
P Watson et al.
NATURE CELL BIOLOGY (2005)
Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation
H Heimpel et al.
BLOOD (2003)
Mouse proteome analysis
A Kanapin et al.
GENOME RESEARCH (2003)
Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency
BH Paw et al.
NATURE GENETICS (2003)
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders
B Jones et al.
NATURE GENETICS (2003)
Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation
AF Remacha et al.
BLOOD (2002)
Observation of antigen-dependent CD8+ T-cell/dendritic cell interactions in vivo
BC Schaefer et al.
CELLULAR IMMUNOLOGY (2001)
Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II)
A Iolascon et al.
BONE MARROW TRANSPLANTATION (2001)
分享论文
