Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
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TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transportA dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemiaVesicle-mediated ER export of proteins and lipidsProtein export at the ER: loading big collagens into COPII carriersGermline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerLoss of autophagy in erythroid cells leads to defective removal of mitochondria and severe anemia in vivoSEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion.In vivo cell biology in zebrafish - providing insights into vertebrate development and disease.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.Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian populationThe COPII pathway and hematologic diseaseSEC23B is required for the maintenance of murine professional secretory tissues.Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesisCargo loading at the ER.Congenital dyserythropoietic anaemias: new acquisitionsCongenital disorders of glycosylation (CDG): it's (nearly) all in it!Golgi glycosylation and human inherited diseases.COPII and COPI traffic at the ER-Golgi interface.Proteomics of blood and derived products: what's next?COPII and the regulation of protein sorting in mammals.Glycosylation disorders of membrane trafficking.Inherited hematological disorders due to defects in coat protein (COP)II complex.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Congenital dyserythropoietic anemias: molecular insights and diagnostic approachCongenital dyserythropoietic anemia in China: a case report from two families and a review.Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.Mechanisms for exporting large-sized cargoes from the endoplasmic reticulum.Ineffective erythropoiesis and regulation of iron status in iron loading anaemias.Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis-what patients can teach us about blood cell production.The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.SEC23B is required for pancreatic acinar cell function in adult mice.
P2860
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P2860
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Congenital dyserythropoietic a ...... mutations in the SEC23B gene.
@en
type
label
Congenital dyserythropoietic a ...... mutations in the SEC23B gene.
@en
prefLabel
Congenital dyserythropoietic a ...... mutations in the SEC23B gene.
@en
P2093
P50
P356
P1433
P1476
Congenital dyserythropoietic a ...... mutations in the SEC23B gene.
@en
P2093
Alberto Zanella
Alessandra Iurlo
Carla Boschetti
Pier Giorgio Righetti
Wilma Barcellini
P304
P356
10.1002/HUMU.21077
P577
2009-09-01T00:00:00Z