Absence of a Red Blood Cell Phenotype in Mice with Hematopoietic Deficiency of SEC23B

Global transcriptome analyses of human and murine terminal erythroid differentiation

(2014) X. An et al.   BLOOD

Transcriptional divergence and conservation of human and mouse erythropoiesis

(2014) N. Pishesha et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

(2013) Roberta Russo et al.   BLOOD CELLS MOLECULES AND DISEASES

Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

(2013) T. J. Satchwell et al.   HAEMATOLOGICA

Disruption of the Sec24d Gene Results in Early Embryonic Lethality in the Mouse

(2013) Andrea C. Baines et al.   PLoS One

SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion

(2013) Xiao-Wei Chen et al.   eLife

The COPII pathway and hematologic disease

(2012) R. Khoriaty et al.   BLOOD

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

(2012) Gang Liu et al.   BRITISH JOURNAL OF HAEMATOLOGY

SEC23B is required for the maintenance of murine professional secretory tissues

(2012) J. Tao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

E109K Is a SEC23B Founder Mutation among Israeli Moroccan Jewish Patients with Congenital Dyserythropoietic Anemia Type II

(2011) Achiya Amir et al.   ACTA HAEMATOLOGICA

Two founder mutations in theSEC23Bgene account for the relatively high frequency of CDA II in the Italian population

(2011) Roberta Russo et al.   AMERICAN JOURNAL OF HEMATOLOGY

COPII and the regulation of protein sorting in mammals

(2011) Giulia Zanetti et al.   NATURE CELL BIOLOGY

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

(2011) Francesca Punzo et al.   Orphanet Journal of Rare Diseases

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

(2010) Roberta Russo et al.   AMERICAN JOURNAL OF HEMATOLOGY

CDAII presenting as hydrops foetalis: Molecular characterization of two cases

(2010) Elisa Fermo et al.   BLOOD CELLS MOLECULES AND DISEASES

A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis

(2010) Michael R. Hughes et al.   EXPERIMENTAL HEMATOLOGY

Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor

(2010) M. Siatecka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction

(2009) M. L. Chen et al.   BLOOD

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

(2009) A. Iolascon et al.   HAEMATOLOGICA

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

(2009) A. Iolascon et al.   HAEMATOLOGICA

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene

(2009) Paola Bianchi et al.   HUMAN MUTATION

Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure

(2009) Janna Merte et al.   NATURE CELL BIOLOGY

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

(2009) Klaus Schwarz et al.   NATURE GENETICS

Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis

(2009) K. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hematopoiesis: An Evolving Paradigm for Stem Cell Biology

(2008) Stuart H. Orkin et al.   CELL

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

(2008) Karin E Finberg et al.   NATURE GENETICS