(Q39831906)

15 September 2017

title

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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15 September 2017

10

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15 September 2017

Luigia De Falco

13

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Markus Rojewski

Markus T Rojewski

16

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Barry H Paw

Barry H Paw

7

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Maria Rosaria Esposito

Maria Rosaria Esposito

11

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Rainer Pepperkok

Rainer Pepperkok

21

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Brigitte Joggerst

15

Brigitte Joggerst

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15 September 2017

Klaus Schwarz

1

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15 September 2017

Achille Iolascon

2

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15 September 2017

Fatima Verissimo

3

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15 September 2017

Nikolaus S Trede

4

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15 September 2017

Wyatt Horsley

5

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15 September 2017

Wen Chen

6

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15 September 2017

Karlheinz Holzmann

9

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15 September 2017

Daniela Spano

12

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15 September 2017

Katja Heinrich

14

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15 September 2017

Silverio Perrotta

17

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15 September 2017

Jonas Denecke

18

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15 September 2017

Ulrich Pannicke

19

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15 September 2017

Jean Delaunay

20

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15 September 2017

Hermann Heimpel

22

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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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15 September 2017

volume

41

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15 September 2017

issue

8

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15 September 2017

page(s)

936-940

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

15 September 2017

cites work

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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.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.405

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Dimensions Publication ID

15 September 2017

1019833706

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