Detalhe da pesquisa
1.
p53 activation during ribosome biogenesis regulates normal erythroid differentiation.
Blood
; 137(1): 89-102, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32818241
2.
Physiology of Red Cell Lineage: From Erythroblast Progenitors to Mature Red Blood Cell.
Int J Mol Sci
; 24(11)2023 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298665
3.
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Genet Med
; 23(1): 140-148, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873934
4.
The molecular genetics of sideroblastic anemia.
Blood
; 133(1): 59-69, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401706
5.
XPO1 regulates erythroid differentiation and is a new target for the treatment of ß-thalassemia.
Haematologica
; 105(9): 2240-2249, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054049
6.
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Proc Natl Acad Sci U S A
; 114(38): E8045-E8052, 2017 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874591
7.
Finely-tuned regulation of AMP-activated protein kinase is crucial for human adult erythropoiesis.
Haematologica
; 104(5): 907-918, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30309849
8.
Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes.
Haematologica
; 104(3): 497-504, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287621
9.
Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria.
J Am Acad Dermatol
; 88(5): 1148-1151, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436693
10.
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.
Am J Hum Genet
; 94(4): 611-7, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680888
11.
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Haematologica
; 106(7): 2030-2033, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596641
12.
Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.
Biochemistry
; 54(36): 5617-31, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26300302
13.
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Hum Mol Genet
; 22(7): 1280-8, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23263862
14.
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.
J Mol Diagn
; 26(5): 430-444, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38360212
15.
Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis.
Sci Adv
; 10(5): eadj9479, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38295180
16.
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
Blood
; 118(6): 1443-51, 2011 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21653323
17.
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Hum Mutat
; 32(6): 590-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309041
18.
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Am J Hum Genet
; 83(3): 408-14, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18760763
19.
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
J Clin Invest
; 130(10): 5245-5256, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634119
20.
Comprehensive Proteomic Analysis of Human Erythropoiesis.
Cell Rep
; 16(5): 1470-1484, 2016 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27452463