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

by Millonig, Gunda, Muckenthaler, Martina U, Mueller, Sebastian
Published 2010

Out of Balance—Systemic Iron Homeostasis in Iron-Related Disorders

by Steinbicker, Andrea U., Muckenthaler, Martina U.
Published 2013

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

by Babu, Kamesh R., Muckenthaler, Martina U.
Published 2015

Atherogenesis and iron: from epidemiology to cellular level

by Vinchi, Francesca, Muckenthaler, Martina U., Da Silva, Milene C., Balla, György, Balla, József, Jeney, Viktória
Published 2014

A Multi-Scale Model of Hepcidin Promoter Regulation Reveals Factors Controlling Systemic Iron Homeostasis

by Casanovas, Guillem, Banerji, Anashua, d'Alessio, Flavia, Muckenthaler, Martina U., Legewie, Stefan
Published 2014

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

by Luscieti, Sara, Tolle, Gabriele, Aranda, Jessica, Campos, Carmen Benet, Risse, Frank, Morán, Érica, Muckenthaler, Martina U, Sánchez, Mayka
Published 2013

Hfe Deficiency Impairs Pulmonary Neutrophil Recruitment in Response to Inflammation

by Benesova, Karolina, Vujić Spasić, Maja, Schaefer, Sebastian M., Stolte, Jens, Baehr-Ivacevic, Tomi, Waldow, Katharina, Zhou, Zhe, Klingmueller, Ursula, Benes, Vladimir, Mall, Marcus A., Muckenthaler, Martina U.
Published 2012

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

by Cozzi, Anna, Santambrogio, Paolo, Privitera, Daniela, Broccoli, Vania, Rotundo, Luisa Ida, Garavaglia, Barbara, Benz, Rudolf, Altamura, Sandro, Goede, Jeroen S., Muckenthaler, Martina U., Levi, Sonia
Published 2013

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

by Matsuo, Shunsuke, Ogawa, Masayuki, Muckenthaler, Martina U., Mizui, Yumiko, Sasaki, Shota, Fujimura, Takafumi, Takizawa, Masayuki, Ariga, Nagayuki, Ozaki, Hiroaki, Sakaguchi, Masakiyo, Gonzalez, Frank J., Inoue, Yusuke
Published 2015

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

by Díaz, Víctor, Peinado, Ana B, Barba-Moreno, Laura, Altamura, Sandro, Butragueño, Javier, González-Gross, Marcela, Alteheld, Birgit, Stehle, Peter, Zapico, Augusto G, Muckenthaler, Martina U, Gassmann, Max
Published 2015

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

by Shochat, Chen, Tal, Noa, Bandapalli, Obul R., Palmi, Chiara, Ganmore, Ithamar, te Kronnie, Geertruy, Cario, Gunnar, Cazzaniga, Giovanni, Kulozik, Andreas E., Stanulla, Martin, Schrappe, Martin, Biondi, Andrea, Basso, Giuseppe, Bercovich, Dani, Muckenthaler, Martina U., Izraeli, Shai
Published 2011

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

by Shochat, Chen, Tal, Noa, Bandapalli, Obul R., Palmi, Chiara, Ganmore, Ithamar, te Kronnie, Geertruy, Cario, Gunnar, Cazzaniga, Giovanni, Kulozik, Andreas E., Stanulla, Martin, Schrappe, Martin, Biondi, Andrea, Basso, Giuseppe, Bercovich, Dani, Muckenthaler, Martina U., Izraeli, Shai
Published 2011

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

by Nairz, Manfred, Schleicher, Ulrike, Schroll, Andrea, Sonnweber, Thomas, Theurl, Igor, Ludwiczek, Susanne, Talasz, Heribert, Brandacher, Gerald, Moser, Patrizia L., Muckenthaler, Martina U., Fang, Ferric C., Bogdan, Christian, Weiss, Günter
Published 2013

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

by Lodrini, Marco, Oehme, Ina, Schroeder, Christina, Milde, Till, Schier, Marie C., Kopp-Schneider, Annette, Schulte, Johannes H., Fischer, Matthias, De Preter, Katleen, Pattyn, Filip, Castoldi, Mirco, Muckenthaler, Martina U., Kulozik, Andreas E., Westermann, Frank, Witt, Olaf, Deubzer, Hedwig E.
Published 2013

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

by Kim, Don-Kyu, Kim, Yong-Hoon, Jung, Yoon Seok, Kim, Ki-Sun, Jeong, Jae-Ho, Lee, Yong-Soo, Yuk, Jae-Min, Oh, Byung-Chul, Choy, Hyon E., Dooley, Steven, Muckenthaler, Martina U., Lee, Chul-Ho, Choi, Hueng-Sik
Published 2016

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...

by Costa, Mónica, Cruz, Eugénia, Oliveira, Susana, Benes, Vladimir, Ivacevic, Tomi, Silva, Maria João, Vieira, Inês, Dias, Francisco, Fonseca, Sónia, Gonçalves, Marta, Lima, Margarida, Leitão, Catarina, Muckenthaler, Martina U., Pinto, Jorge, Porto, Graça
Published 2015