Identification of New BMP6 Pro-Peptide Mutations in Patients with Unexplained Iron-Overload

被引：0

作者：

Piubelli, Chiara ^{[1
,2
]}

Castagna, Annalisa ^{[1
,2
]}

Marchi, Giacomo ^{[1
,2
]}

Rizzi, Monica ^{[1
,2
]}

Busti, Fabiana ^{[1
,2
]}

Marchetti, Monia ^{[3
]}

De Gobbi, Marco ^{[4
]}

Roetto, Antonella ^{[4
]}

Xumerle, Luciano ^{[5
]}

Giorgetti, Alejandro ^{[5
]}

Delledonne, Massimo ^{[5
]}

Olivieri, Oliviero ^{[1
,2
]}

Girelli, Domenico ^{[1
,2
]}

机构：

[1] Univ Verona, Dept Med, Verona, Italy

[2] Azienda Ospedaliera Univ Integrata Verona, Veneto Region Referral Ctr Iron Disorders, Verona, Italy

[3] ASTI, Osped Cardinal Massaia, Oncol Unit, ASTI, Italy

[4] Univ Turin, Dept Clin & Biol Sci, Orbassano TO, Italy

[5] Univ Verona, Dept Biotechnol, Verona, Italy

来源：

BLOOD | 2016年 / 128卷 / 22期

关键词：

D O I：

10.1182/blood.V128.22.264.264

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

264

引用

页数：5

共 24 条

[1] Identification of new BMP6 pro-peptide mutations in patients with iron overload
Piubelli, Chiara
Castagna, Annalisa
Marchi, Giacomo
Rizzi, Monica
Busti, Fabiana
Badar, Sadaf
Marchetti, Monia
De Gobbi, Marco
Roetto, Antonella
Xumerle, Luciano
Suku, Eda
Giorgetti, Alejandro
Delledonne, Massimo
Olivieri, Oliviero
Girelli, Domenico
AMERICAN JOURNAL OF HEMATOLOGY, 2017, 92 (06) : 562 - 568
[2] Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans
Daher, Raed
Kannengiesser, Caroline
Houamel, Dounia
Lefebvre, Thibaud
Bardou-Jacquet, Edouard
Ducrot, Nicolas
de Kerguenec, Caroline
Jouanolle, Anne-Marie
Robreau, Anne-Marie
Oudin, Claire
Le Gac, Gerald
Moulouel, Boualem
Loustaud-Ratti, Veronique
Bedossa, Pierre
Valla, Dominique
Gouya, Laurent
Beaumont, Carole
Brissot, Pierre
Puy, Herve
Karim, Zoubida
Tchernitchko, Dimitri
GASTROENTEROLOGY, 2016, 150 (03) : 672 - +
[3] HETEROZYGOUS MUTATIONS IN BMP6 PRO-PEPTIDE LEAD TO INAPPROPRIATE HEPCIDIN SYNTHESIS AND MODERATE IRON OVERLOAD IN HUMANS
Daher, Raed
Kannengiesser, Caroline
Houamel, Dounia
Lefebvre, Thibaud
Bardou-Jacquet, Edouard
Ducrot, Nicolas
de Kerguenec, Caroline
Jouanolle, Anne-Marie
Bedossa, Pierre
Valla, Dominique
Gouya, Laurent
Beaumont, Carole
Brissot, Pierre
Puy, Herve
Tchernitchko, Dimitri
Karim, Zoubida
AMERICAN JOURNAL OF HEMATOLOGY, 2016, 91 (03) : E254 - E254
[4] Investigation of BMP6 mutations in Brazilian patients with iron overload
Toreli, Ana Carolina Moura
Toni, Isabella
de Albuquerque, Dulcineia Martins
Lanaro, Carolina
Maues, Jersey Heitor
Fertrin, Kleber Yotsumoto
Campos, Paula de Melo
Costa, Fernando Ferreira
HEMATOLOGY TRANSFUSION AND CELL THERAPY, 2024, 46 : S197 - S200
[5] Genetic Variants in the BMP6 Pro-Peptide May Not Cause Iron Loading and Should Be Interpreted With Caution
Mcdonald, Cameron J.
Rishi, Gautam
Wallace, Daniel F.
Subramaniam, V. Nathan
GASTROENTEROLOGY, 2016, 151 (04) : 770 - 771
[6] Genetic Variants in the BMP6 Pro-Peptide May Not Cause Iron Loading and Should Be Interpreted With Caution Reply
Karim, Zoubida
Puy, Herve
Beaumont, Carole
Gouya, Laurent
Kannengiesser, Caroline
GASTROENTEROLOGY, 2016, 151 (04) : 771 - 772
[7] Iron overload induces BMP6 expression in the liver but not in the duodenum
Kautz, Leon
Besson-Fournier, Celine
Meynard, Delphine
Latour, Chloe
Roth, Marie-Paule
Coppin, Helene
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (02): : 199 - 203
[8] Novel BMP6 gene mutation in patient with iron overload
Tchernitchko, Dimitri
Lamoril, Jerome
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY, 2021, 33 (07) : 1029 - 1030
[9] Lack of the bone morphogenetic protein BMP6 induces massive iron overload
Delphine Meynard
Léon Kautz
Valérie Darnaud
François Canonne-Hergaux
Hélène Coppin
Marie-Paule Roth
Nature Genetics, 2009, 41 : 478 - 481
[10] Lack of the bone morphogenetic protein BMP6 induces massive iron overload
Meynard, Delphine
Kautz, Leon
Darnaud, Valerie
Canonne-Hergaux, Francois
Coppin, Helene
Roth, Marie-Paule
NATURE GENETICS, 2009, 41 (04) : 478 - 481

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