Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (Q39831906)

15 September 2017

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. (English)

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congenital dyserythropoietic anemia

15 September 2017

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8

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10

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Luigia De Falco

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Markus Rojewski

Markus T Rojewski

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Barry H Paw

Barry H Paw

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Maria Rosaria Esposito

Maria Rosaria Esposito

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Rainer Pepperkok

Rainer Pepperkok

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Brigitte Joggerst

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Brigitte Joggerst

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Klaus Schwarz

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Achille Iolascon

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Fatima Verissimo

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Nikolaus S Trede

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Wyatt Horsley

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Wen Chen

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Karlheinz Holzmann

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Daniela Spano

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Katja Heinrich

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Silverio Perrotta

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Jonas Denecke

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Ulrich Pannicke

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Jean Delaunay

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Hermann Heimpel

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15 September 2017

language of work or name

English

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publication date

28 June 2009

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15 September 2017

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41

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8

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936-940

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https://scigraph.springernature.com/pub.10.1038/ng.405

15 September 2017

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cites work

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search

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12 December 2020

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation

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12 December 2020

Interplay of pu.1 and gata1 determines myelo-erythroid progenitor cell fate in zebrafish

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12 December 2020

Dissection of the mammalian midbody proteome reveals conserved cytokinesis mechanisms.

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12 December 2020

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects

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12 December 2020

SNARE selectivity of the COPII coat

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12 December 2020

Protein structure modeling with MODELLER

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12 December 2020

Proliferation Disturbances of Erythroblasts in Congenital Dyserythropoietic Anemia Type I and II

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12 December 2020

Structure of the Sec23/24-Sar1 pre-budding complex of the COPII vesicle coat

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12 December 2020

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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12 December 2020

Congenital dyserythropoietic anemias

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12 December 2020

Multicolour imaging of post-Golgi sorting and trafficking in live cells

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12 December 2020

Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle

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12 December 2020

The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope

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12 December 2020

Beta-COP is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo

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12 December 2020

Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts

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12 December 2020

Autophagosome requires specific early Sec proteins for its formation and NSF/SNARE for vacuolar fusion

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12 December 2020

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS).

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12 December 2020

Coordination of COPII vesicle trafficking by Sec23.

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12 December 2020

Bi-directional protein transport between the ER and Golgi

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12 December 2020

Clathrin and two components of the COPII complex, Sec23p and Sec24p, could be involved in endocytosis of the Saccharomyces cerevisiae maltose transporter

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12 December 2020

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

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12 December 2020

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

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12 December 2020

Red-Cell Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified-Serum Test)

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12 December 2020

Congenital dyserythropoietic anemias: a still unsolved puzzle

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12 December 2020

Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation

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12 December 2020

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

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12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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12 December 2020

Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency.

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12 December 2020

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

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12 December 2020

Insights into COPII coat nucleation from the structure of Sec23.Sar1 complexed with the active fragment of Sec31

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12 December 2020

Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture: cellular and molecular characterization.

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12 December 2020

Identifiers

DOI

10.1038/NG.405

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Dimensions Publication ID

15 September 2017

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