Search details
1.
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm.
Am J Hum Genet
; 108(9): 1578-1589, 2021 09 02.
Article
in English
| MEDLINE | ID: mdl-34265237
2.
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Blood
; 128(15): 1913-1917, 2016 10 13.
Article
in English
| MEDLINE | ID: mdl-27488349
3.
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Blood
; 126(25): 2734-8, 2015 Dec 17.
Article
in English
| MEDLINE | ID: mdl-26491070
4.
Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of ß-thalassemia.
Blood
; 134(6): 568-572, 2019 08 08.
Article
in English
| MEDLINE | ID: mdl-31151988
5.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Blood
; 124(18): 2867-71, 2014 Oct 30.
Article
in English
| MEDLINE | ID: mdl-25193871
6.
Atomic structure of the 75 MDa extremophile Sulfolobus turreted icosahedral virus determined by CryoEM and X-ray crystallography.
Proc Natl Acad Sci U S A
; 110(14): 5504-9, 2013 Apr 02.
Article
in English
| MEDLINE | ID: mdl-23520050
7.
An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine ß-thalassemia intermedia.
Blood
; 121(7): 1200-8, 2013 Feb 14.
Article
in English
| MEDLINE | ID: mdl-23223430
8.
The crystal structure of six-transmembrane epithelial antigen of the prostate 4 (Steap4), a ferri/cuprireductase, suggests a novel interdomain flavin-binding site.
J Biol Chem
; 288(28): 20668-82, 2013 Jul 12.
Article
in English
| MEDLINE | ID: mdl-23733181
9.
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Am J Hematol
; 89(3): 315-9, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24166784
10.
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.
Nat Genet
; 55(7): 1106-1115, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37308786
11.
Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle.
Proc Natl Acad Sci U S A
; 105(21): 7410-5, 2008 May 27.
Article
in English
| MEDLINE | ID: mdl-18495927
12.
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
J Clin Invest
; 130(10): 5245-5256, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32634119
13.
Downregulation of ribosome biogenesis during early forebrain development.
Elife
; 72018 05 10.
Article
in English
| MEDLINE | ID: mdl-29745900
14.
UBE2O remodels the proteome during terminal erythroid differentiation.
Science
; 357(6350)2017 08 04.
Article
in English
| MEDLINE | ID: mdl-28774900
15.
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
Sci Rep
; 6: 26202, 2016 05 20.
Article
in English
| MEDLINE | ID: mdl-27197761
16.
Indolent T-lymphoblastic proliferation with disseminated multinodal involvement and partial CD33 expression.
Am J Surg Pathol
; 38(9): 1298-304, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24618611
Results
1 -
16
de 16
1
Next >
>>