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List of works by Martina Muckenthaler

2-Oxoglutarate-dependent oxygenases control hepcidin gene expression

scientific article

A Red Carpet for Iron Metabolism.

scientific article published on January 2017

A bone morphogenetic protein (BMP)-responsive element in the hepcidin promoter controls HFE2-mediated hepatic hepcidin expression and its response to IL-6 in cultured cells

scientific article

A multi-scale model of hepcidin promoter regulation reveals factors controlling systemic iron homeostasis

scientific article

A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

scientific article

A novel inflammatory pathway mediating rapid hepcidin-independent hypoferremia.

scientific article

A sensitive array for microRNA expression profiling (miChip) based on locked nucleic acids (LNA)

scientific article

ALK3 undergoes ligand-independent homodimerization and BMP-induced heterodimerization with ALK2

scientific article published on 15 September 2018

Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia

scientific article published on 13 April 2006

Acute loss of the hepatic endo-lysosomal system in vivo causes compensatory changes in iron homeostasis.

scientific article published on 22 June 2017

Adaptation of iron requirement to hypoxic conditions at high altitude

scientific article published on 16 July 2015

Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients

scientific article published on 20 November 2012

Air-blood barrier thickening and alterations of alveolar epithelial type 2 cells in mouse lungs with disrupted hepcidin/ferroportin regulatory system

scientific article published on 03 October 2018

Altered body iron distribution and microcytosis in mice deficient in iron regulatory protein 2 (IRP2)

scientific article published on 14 June 2005

Altered serum iron and copper homeostasis predicts cognitive decline in mild cognitive impairment

scientific article published on January 2012

An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.

scientific article published on 18 April 2004

Analysis of microribonucleic acid expression by quantitative real-time polymerase chain reaction

Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome

scientific article published in April 2015

Atherogenesis and iron: from epidemiology to cellular level

scientific article

Atherosclerosis is aggravated by iron overload and ameliorated by dietary and pharmacological iron restriction

scientific article published on 20 March 2019

Author Correction: Transferrin receptor 2 controls bone mass and pathological bone formation via BMP and Wnt signaling

scientific article published on 01 May 2019

Bone morphogenetic protein (BMP)-responsive elements located in the proximal and distal hepcidin promoter are critical for its response to HJV/BMP/SMAD.

scientific article

CRLF2 over-expression is a poor prognostic marker in children with high risk T-cell acute lymphoblastic leukemia

scientific article published on 15 July 2016

Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1

scientific article

Cdk6 contributes to cytoskeletal stability in erythroid cells.

scientific article published on 2 March 2017

Cell-specific expression of <i>Hfe</i> determines the outcome of <i>Salmonella enterica</i> serovar Typhimurium infection in mice

scientific article published on 13 October 2020

Cellular citrate levels establish a regulatory link between energy metabolism and the hepatic iron hormone hepcidin

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

scientific article published on 05 August 2020

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

scientific article published on 25 July 2013

Computerized image analysis of iron-stained macrophages

scientific article published on 17 April 2013

Costs of haematological disease high and rising.

scientific article published on 22 July 2016

Dicarbonyls and Advanced Glycation End-Products in the Development of Diabetic Complications and Targets for Intervention

scientific article published on 5 May 2017

Dietary stearic acid regulates mitochondria in vivo in humans

scientific article published in Nature Communications

Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease

scientific article

Disruption of the hepcidin/ferroportin regulatory circuitry causes low axial bone mass in mice

scientific article published on 04 May 2020

Downregulation of Notch signaling by gamma-secretase inhibition can abrogate chemotherapy-induced apoptosis in T-ALL cell lines

scientific article

EHA Research Roadmap on Hemoglobinopathies and Thalassemia: An Update

scientific article published on 04 June 2019

Elevated hepcidin serum level in response to inflammatory and iron signals in exercising athletes is independent of moderate supplementation with vitamin C and E

scientific article

Eliezer Rachmilewitz (1935-2017)

scientific article published on 01 January 2018

Ex vivo drug response profiling detects recurrent sensitivity patterns in drug-resistant acute lymphoblastic leukemia.

scientific article published on 25 January 2017

Expression of epithelial cell iron-related genes upon infection by Neisseria meningitidis

scientific article published in May 2004

Expression of the miR-17-92 polycistron in chronic myeloid leukemia (CML) CD34+ cells

scientific article

Expression of the subgenomic hepatitis C virus replicon alters iron homeostasis in Huh7 cells

scientific article published on 2 March 2007

Fine tuning of hepcidin expression by positive and negative regulators

scientific article published on July 2008

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany

scientific article published on 23 April 2015

Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias ⬇️

scientific article

Gain-of-function mutations ininterleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias

Glutathione peroxidase 4 and vitamin E control reticulocyte maturation, stress erythropoiesis and iron homeostasis

scientific article published on 27 June 2019

Growth differentiation factor 15 in patients with congenital dyserythropoietic anaemia (CDA) type II

scientific article published on 08 April 2011

Heme controls ferroportin1 (FPN1) transcription involving Bach1, Nrf2 and a MARE/ARE sequence motif at position -7007 of the FPN1 promoter

scientific article

Hemochromatosis proteins are dispensable for the acute hepcidin response to BMP2

scientific article published on 13 February 2020

Hemoglobin concentration of young men at residential altitudes between 200 and 2000 m mirrors Switzerland's topography

scientific article published on 01 March 2020

Hemopexin therapy reverts heme-induced proinflammatory phenotypic switching of macrophages in a mouse model of sickle cell disease

scientific article published on 16 December 2015

Hepatic Smad7 overexpression causes severe iron overload in mice.

scientific article

Hepatocyte Nuclear Factor 4α Controls Iron Metabolism and Regulates Transferrin Receptor 2 in Mouse Liver

scientific article

Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.

scientific article published on September 2017

Hepcidin: iron-hormone and anti-microbial peptide

scientific article

Hfe acts in hepatocytes to prevent hemochromatosis.

scientific article

Hfe deficiency impairs pulmonary neutrophil recruitment in response to inflammation

scientific article

High CD45 surface expression determines relapse risk in children with precursor B-cell and T-cell acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol

scientific article

High expression of miR-125b-2 and SNORD116 noncoding RNA clusters characterize ERG-related B cell precursor acute lymphoblastic leukemia.

scientific article published on 21 March 2017

High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response

scientific article published on 30 April 2009

How mutant HFE causes hereditary hemochromatosis

scientific article published on August 2014

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

scientific article published on 12 August 2013

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

scientific article published on April 2010

Hypoferremia is Associated With Increased Hospitalization and Oxygen Demand in COVID-19 Patients

scientific article published on 10 November 2020

Hypoxia induced downregulation of hepcidin is mediated by platelet derived growth factor BB.

scientific article published on 5 March 2014

IKZF1plus Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia

scientific article published on 2 March 2018

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia

scientific article published on 3 February 2017

Identification of cholesterol-regulating genes by targeted RNAi screening

scientific article

Identification of target mRNAs of regulatory RNA-binding proteins using mRNP immunopurification and microarrays

scientific article published on January 2007

Imatinib and spironolactone suppress hepcidin expression

scientific article

Impact of pre-analytical handling on bone marrow mRNA gene expression

scientific article published on 01 July 2004

In vivo nanoparticle imaging of innate immune cells can serve as a marker of disease severity in a model of multiple sclerosis.

scientific article published on 31 October 2016

Increased hepcidin levels in high-altitude pulmonary edema

scientific article published on 18 December 2014

Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European populatio

scientific article published on 17 August 2010

Iron Homeostasis in the Lungs-A Balance between Health and Disease

article

Iron Induces Anti-tumor Activity in Tumor-Associated Macrophages.

scientific article published on 8 November 2017

Iron Regulation in Elderly Asian Elephants (Elephas maximus) Chronically Infected With Mycobacterium tuberculosis

scientific article published on 30 October 2020

Iron accumulation in tumor-associated macrophages marks an improved overall survival in patients with lung adenocarcinoma

scientific article published on 05 August 2019

Iron deficiency

scientific article published on 04 December 2020

Iron deficiency anaemia and cataracts in a patient with haemochromatosis ⬇️

scientific article published on July 18, 2013

Iron inactivates the RNA polymerase NS5B and suppresses subgenomic replication of hepatitis C Virus.

scientific article

Iron metabolism in high altitude residents

scientific article published on 27 August 2020

Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin

scientific article published on 15 November 2003

Iron refractory iron deficiency anemia

scientific article published on June 2013

Iron regulation and the cell cycle: identification of an iron-responsive element in the 3'-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy

scientific article (publication date: 11 August 2006)

Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins

scientific article published on 22 September 2011

Iron toxicity in diseases of aging: Alzheimer's disease, Parkinson's disease and atherosclerosis

scientific article published on January 2009

Iron-Related Parameters are Altered Between C57BL/6N and C57BL/6J Mus Musculus Wild-Type Substrains

scientific article published on 22 October 2019

Iron-mediated degradation of IRP2, an unexpected pathway involving a 2-oxoglutarate-dependent oxygenase activity

scientific article published on February 2004

Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency

scientific article

Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element?

scientific article published on October 2007

Lack of haptoglobin affects iron transport across duodenum by modulating ferroportin expression.

scientific article

Lipooligosaccharide-independent alteration of cellular homeostasis in Neisseria meningitidis-infected epithelial cells.

scientific article

Low-iron diet and chelation therapy rescue severe atherosclerosis associated with high circulating iron levels

scientific article published on 12 August 2017

Lymphocyte gene expression signatures from patients and mouse models of hereditary hemochromatosis reveal a function of HFE as a negative regulator of CD8+ T-lymphocyte activation and differentiation in vivo

scientific article

MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB.

scientific article published on 18 June 2018

MYCN and HDAC2 cooperate to repress miR-183 signaling in neuroblastoma

scientific article published on 26 April 2013

Macrophage-HFE controls iron metabolism and immune responses in aged mice

scientific article published on 20 February 2020

Methylglyoxal and Advanced Glycation End Products in Patients with Diabetes - What We Know so Far and the Missing Links

scientific article published on 13 April 2017

Mice with hepcidin-resistant ferroportin accumulate iron in the retina

scientific article

MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblasts

scientific journal article

Mild copper deficiency alters gene expression of proteins involved in iron metabolism

scientific article published on 05 January 2006

Modelling Systemic Iron Regulation during Dietary Iron Overload and Acute Inflammation: Role of Hepcidin-Independent Mechanisms

scientific article

Modulation of glutathione peroxidase activity by age-dependent carbonylation in glomeruli of diabetic mice.

scientific article

Molecular analysis of iron overload in β2-microglobulin-deficient mice

article

Mouse brains deficient in H-ferritin have normal iron concentration but a protein profile of iron deficiency and increased evidence of oxidative stress

scientific article published in January 2003

Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation

scientific article published on 4 August 2016

Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin

scientific article published on 20 April 2011

NOTCH1 activation clinically antagonizes the unfavorable effect of PTEN inactivation in BFM-treated children with precursor T-cell acute lymphoblastic leukemia

scientific article published on 24 January 2013

NOTCH1 mutation, TP53 alteration and myeloid antigen expression predict outcome heterogeneity in children with first relapse of T-cell acute lymphoblastic leukemia

scientific article published on 30 March 2017

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

scientific article published in December 2016

Nitric oxide-mediated regulation of ferroportin-1 controls macrophage iron homeostasis and immune function in Salmonella infection

scientific article published on 29 April 2013

No changes in heme synthesis in human Friedreich´s ataxia erythroid progenitor cells

scientific article published on 12 April 2017

Novel activating mutations lacking cysteine in type I cytokine receptors in acute lymphoblastic leukemia

scientific article published in May 2014

Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundant neuropil and true rosettes.

scientific article

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

scientific article published on 19 February 2013

Orphan nuclear receptor SHP regulates iron metabolism through inhibition of BMP6-mediated hepcidin expression

scientific article published on 30 September 2016

Out of balance--systemic iron homeostasis in iron-related disorders

scientific article published on 02 August 2013

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

scientific article published on 01 December 2018

Pathophysiological consequences and benefits of HFE mutations: 20 years of research.

scientific article

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation

scientific article

Pegylated interferon-α induced hypoferremia is associated with the immediate response to treatment in hepatitis C.

scientific article

Physiologic systemic iron metabolism in mice deficient for duodenal Hfe

scientific article published on 30 January 2007

Quantitative magnetic analysis reveals ferritin-like iron as the most predominant iron-containing species in the murine Hfe-haemochromatosis

scientific article

RNA degradation compromises the reliability of microRNA expression profiling

scientific article

Regulation of iron homeostasis by microRNAs

scientific article published on 09 June 2012

Regulation of iron homeostasis: Lessons from mouse models

scientific article published on 10 August 2020

Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis

scientific article published in May 2003

Relationships and distinctions in iron-regulatory networks responding to interrelated signals

scientific article published on 26 September 2002

Reply: To PMID 22334511.

scientific article published on 14 February 2014

Resistance of ferroportin to hepcidin binding causes exocrine pancreatic failure and fatal iron overload

scientific article

SELDI-TOF MS detection of urinary hepcidin

scientific article

SLN124, a GalNAc-siRNA Conjugate Targeting TMPRSS6, Efficiently Prevents Iron Overload in Hereditary Haemochromatosis Type 1

scientific article published on 01 October 2019

SMAD7 controls iron metabolism as a potent inhibitor of hepcidin expression

scientific article

STAT3 mediates hepatic hepcidin expression and its inflammatory stimulation

scientific article

Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels

scientific article published in 2015

Signal transducer and activator of transcription 3-mediated regulation of miR-199a-5p links cardiomyocyte and endothelial cell function in the heart: a key role for ubiquitin-conjugating enzymes

scientific article published on 21 October 2010

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening

scientific article published on 12 December 2015

Smad6 and Smad7 are co-regulated with hepcidin in mouse models of iron overload

scientific journal article

Standardization of protocols in cDNA microarray analysis

scientific article published in May 2003

Standardization of protocols in cDNA microarray analysis

Sustained submicromolar H2O2 levels induce hepcidin via signal transducer and activator of transcription 3 (STAT3).

scientific article published on 29 August 2012

Systemic iron homeostasis and the iron-responsive element/iron-regulatory protein (IRE/IRP) regulatory network

scientific article

Systems analysis of iron metabolism: the network of iron pools and fluxes

scientific article

Testosterone administration inhibits hepcidin transcription and is associated with increased iron incorporation into red blood cells

scientific article published on 28 February 2013

The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays

scientific article

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

scientific article published on 27 June 2014

The geographical ancestry affects normal hemoglobin values in high-altitude residents

scientific article published on 01 October 2020

The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation

scientific article

The hepcidin-ferroportin axis controls the iron content of Salmonella-containing vacuoles in macrophages.

scientific article published on 29 May 2018

The increase in hemoglobin concentration with altitude varies among human populations

scientific article published on 30 June 2019

The liver-specific microRNA miR-122 controls systemic iron homeostasis in mice

scientific article

The molecular circuitry regulating the switch between iron deficiency and overload in mice

scientific article published on 17 January 2006

The murine growth differentiation factor 15 is not essential for systemic iron homeostasis in phlebotomized mice.

scientific article published on 14 September 2012

The role of cellular iron deficiency in controlling iron export

scientific article published on 16 December 2020

Transferrin receptor 2 controls bone mass and pathological bone formation via BMP and Wnt signaling

scientific article published on 07 January 2019

Transferrin receptor 2 is a potential novel therapeutic target for β-thalassemia: evidence from a murine model

scientific article published on 12 September 2018

Transforming Growth Factor β1 (TGF-β1) Activates Hepcidin mRNA Expression in Hepatocytes

scientific article published on 27 April 2016

Two to tango: regulation of Mammalian iron metabolism

scientific article

Unbiased RNAi screen for hepcidin regulators links hepcidin suppression to proliferative Ras/RAF and nutrient-dependent mTOR signaling

scientific article published on 02 January 2014

Uncoupled iron homeostasis in type 2 diabetes mellitus

scientific article

miChip: A microarray platform for expression profiling of microRNAs based on locked nucleic acid (LNA) oligonucleotide capture probes

miChip: an array-based method for microRNA expression profiling using locked nucleic acid capture probes

scientific article from 2008

miR-148a regulates expression of the transferrin receptor 1 in hepatocellular carcinoma

scientific article published in Scientific Reports

miR-20a regulates expression of the iron exporter ferroportin in lung cancer

scientific article published on 12 November 2015

miRNAs affect the expression of innate and adaptive immunity proteins in celiac disease

scientific article published on 29 July 2014

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