Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis
about
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid CancerCD47 surface stability is sensitive to actin disruption prior to inclusion within the band 3 macrocomplex.Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.Grsf1-induced translation of the SNARE protein Use1 is required for expansion of the erythroid compartmentAltered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiationNeural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.The sorting of blood group active proteins during enucleationPancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in micePolyurethane scaffolds seeded with CD34(+) cells maintain early stem cells whilst also facilitating prolonged egress of haematopoietic progenitors.Transcriptional divergence and conservation of human and mouse erythropoiesis.Novel methods for studying normal and disordered erythropoiesis.Diagnosis and management of congenital dyserythropoietic anemias.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Peripheral marginalisation of endoplasmic reticulum membranes in cultured erythroblasts of congenital dyserythropoietic anaemia type II.Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
P2860
Q28115011-D2EE6A0B-8743-4B7C-8234-F505A0D40B21Q33714963-7DD8C0D7-542B-4592-ACA3-5DD266F4FEB3Q34298053-AF3BD4C7-9114-474D-820E-83DA9B1A6EE2Q34798145-EF537DF1-1231-4BD8-BE34-CAB46BB5CA8FQ35237447-2BDBAF95-EC92-45BF-905A-4C416DE4DF38Q35529339-1F29B2B7-0660-46C0-B268-3A29607D0815Q36192465-AF587749-148E-4793-99B2-E4B6FF742162Q36343946-C05FBC24-E028-4F7E-8CD9-ECDBCFF20879Q37000327-22A2FF0D-E580-4EFD-BD74-55222DA93C78Q37215777-8EBBA95F-1430-48D3-8FB1-FE2983FB2BECQ37659730-D7FE9A2C-A0C7-4745-8557-D6971BF4FD03Q38640493-ACA7DEBF-A3B9-4324-BAD7-984D66689C33Q38664955-C6C22872-1A54-4729-8B86-84C199A00980Q39547098-482893D0-FEB1-4EF3-89DA-321A7C562D24Q50427902-BB15FB0F-5C5C-41A1-9E1B-59F141A52AD4Q53086702-C9A7C09C-39BF-43DE-9FC9-7B3B4EAA021D
P2860
Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 09 August 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Characteristic phenotypes asso ...... erent stages of erythropoiesis
@en
Characteristic phenotypes associated with congenital dyserythropoietic anemia
@nl
type
label
Characteristic phenotypes asso ...... erent stages of erythropoiesis
@en
Characteristic phenotypes associated with congenital dyserythropoietic anemia
@nl
prefLabel
Characteristic phenotypes asso ...... erent stages of erythropoiesis
@en
Characteristic phenotypes associated with congenital dyserythropoietic anemia
@nl
P2093
P2860
P50
P1433
P1476
Characteristic phenotypes asso ...... erent stages of erythropoiesis
@en
P2093
Annika Budnik
Bethan R Hawley
Emile van den Akker
Kathryn E Mordue
Stephanie Pellegrin
Timothy J Satchwell
Wilma Barcellini
P2860
P304
P356
10.3324/HAEMATOL.2013.085522
P577
2013-08-09T00:00:00Z