(Q48368671)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

title

Identification of new BMP6 pro-peptide mutations in patients with iron overload (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Chiara Piubelli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Oliviero Olivieri

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Domenico Girelli

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

author name string

Annalisa Castagna

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Giacomo Marchi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Monica Rizzi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Fabiana Busti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Sadaf Badar

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Monia Marchetti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Marco De Gobbi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Antonella Roetto

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Eda Suku

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Alejandro Giorgetti

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Massimo Delledonne

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

publication date

29 April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Hematology

13 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

volume

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

page(s)

562-568

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

Iron overload in human disease

13 March 2020

cites work

1 reference

Iron metabolism and related genetic diseases: A cleared land, keeping mysteries

21 January 2018

1 reference

Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin

21 January 2018

1 reference

Systemic iron homeostasis

21 January 2018

1 reference

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations

21 January 2018

1 reference

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

21 January 2018

1 reference

Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders.

21 January 2018

1 reference

Bone morphogenetic proteins: a critical review

21 January 2018

1 reference

Bone morphogenetic proteins as regulators of iron metabolism

21 January 2018

1 reference

BMP6 orchestrates iron metabolism.

21 January 2018

1 reference

Iron regulates phosphorylation of Smad1/5/8 and gene expression of Bmp6, Smad7, Id1, and Atoh8 in the mouse liver

21 January 2018

1 reference

Iron overload induces BMP6 expression in the liver but not in the duodenum.

21 January 2018

1 reference

Lack of the bone morphogenetic protein BMP6 induces massive iron overload

21 January 2018

1 reference

BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism

21 January 2018

1 reference

Endothelial cells produce bone morphogenetic protein 6 required for iron homeostasis in mice

21 January 2018

1 reference

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

21 January 2018

1 reference

Bone Morphogenetic Protein-6 Mutations Take Their Place in Iron Overload Diseases.

21 January 2018

1 reference

UniProt: a hub for protein information

21 January 2018

1 reference

MUSCLE: multiple sequence alignment with high accuracy and high throughput

21 January 2018

1 reference

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

21 January 2018

1 reference

SwissDock, a protein-small molecule docking web service based on EADock DSS

21 January 2018

1 reference

ff14SB: Improving the Accuracy of Protein Side Chain and Backbone Parameters from ff99SB.

21 January 2018

1 reference

Toward Worldwide Hepcidin Assay Harmonization: Identification of a Commutable Secondary Reference Material.

21 January 2018

1 reference

Hepcidin-25: Measurement by LC-MS/MS in serum and urine, reference ranges and urinary fractional excretion.

21 January 2018

1 reference

Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.

21 January 2018

1 reference

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

Analysis of protein-coding genetic variation in 60,706 humans

21 January 2018

1 reference

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

21 January 2018

1 reference

Latent TGF-β structure and activation

21 January 2018

1 reference

A common biosynthetic pathway governs the dimerization and secretion of inhibin and related transforming growth factor beta (TGFbeta) ligands

21 January 2018

1 reference

A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

21 January 2018

1 reference

Molecular genetic testing and the future of clinical genomics

21 January 2018

1 reference

Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.

21 January 2018

1 reference

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance

21 January 2018

1 reference

Heterodimeric bone morphogenetic proteins show enhanced activity in vitro and in vivo

21 January 2018

1 reference

Subtilisin-like proprotein convertase paired basic amino acid-cleaving enzyme 4 is required for chondrogenic differentiation in ATDC5 cells

21 January 2018

1 reference

Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability

21 January 2018

1 reference

Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis

21 January 2018

1 reference

21 January 2018

1 reference

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

21 January 2018

1 reference

The serum hepcidin:ferritin ratio is a potential biomarker for cirrhosis

21 January 2018

1 reference

Hepcidin in the diagnosis of iron disorders

21 January 2018

1 reference

Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis

21 January 2018

1 reference

BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression.

21 January 2018

1 reference

Immunoassay for human serum hepcidin

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJH.24730

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28335084%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference