Functional and Clinical Impact of NovelTmprss6Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Functional and Clinical Impact of NovelTmprss6Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume -, Issue -, Pages n/a-n/a
Publisher
Wiley
Online
2014-08-26
DOI
10.1002/humu.22632
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Iron refractory iron deficiency anemia
- (2013) L. De Falco et al. HAEMATOLOGICA
- How to Assess Causality ofTMPRSS6Mutations?
- (2013) Laura Silvestri et al. HUMAN MUTATION
- Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
- (2013) Sara Luscieti et al. Orphanet Journal of Rare Diseases
- Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy
- (2013) D.-A. Khuong-Quang et al. PEDIATRICS
- Hepcidin levels predict nonresponsiveness to oral iron therapy in patients with iron deficiency anemia
- (2012) David B. Bregman et al. AMERICAN JOURNAL OF HEMATOLOGY
- A novel mutation in the CUB sequence of matriptase-2 (TMPRSS6) is implicated in iron-resistant iron deficiency anaemia (IRIDA)
- (2012) Aurélie Jaspers et al. BRITISH JOURNAL OF HAEMATOLOGY
- Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)
- (2010) Luigia De Falco et al. HUMAN MUTATION
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
- (2009) L. Silvestri et al. BLOOD
- Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia
- (2009) Isabelle Tchou et al. EUROPEAN JOURNAL OF HAEMATOLOGY
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Iron-Refractory Iron Deficiency Anemia
- (2009) Karin E. Finberg SEMINARS IN HEMATOLOGY
- Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis
- (2008) A. R. Folgueras et al. BLOOD
- Immunoassay for human serum hepcidin
- (2008) T. Ganz et al. BLOOD
- Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency
- (2008) F. Guillem et al. BLOOD
- Fine Tuning of Hepcidin Expression by Positive and Negative Regulators
- (2008) Martina U. Muckenthaler Cell Metabolism
- The Serine Protease Matriptase-2 (TMPRSS6) Inhibits Hepcidin Activation by Cleaving Membrane Hemojuvelin
- (2008) Laura Silvestri et al. Cell Metabolism
- Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response
- (2008) A. Pagani et al. HAEMATOLOGICA
- Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
- (2008) Karin E Finberg et al. NATURE GENETICS
- The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency
- (2008) X. Du et al. SCIENCE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now