List of works - Mayka Sánchez

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

scientific article published on 18 April 2004

Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions.

scientific article

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies

scientific article

Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

scientific article published on 21 December 2017

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

scientific article published on 6 March 2015

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

scientific article published on 30 March 2020

High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.

scientific article

Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals.

scientific article

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)

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

scientific article published on October 2007

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases

article

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

scientific article published on 10 July 2009

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

scientific article

Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom

scientific article

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

Population screening for hemochromatosis: a study in 5370 Spanish blood donors.

scientific article published in June 2003

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls

scientific article published on 01 November 1998

SIREs: searching for iron-responsive elements.

scientific article

The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.

scientific article published in July 2004

The actin binding protein profilin 2 is a novel regulator of iron homeostasis

scientific article published on 3 August 2017

The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.

scientific article published on 5 May 2014

The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

scientific article published on 19 July 2018

List of works by Mayka Sánchez

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

Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions.

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies

Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.

Identification of conserved potentially regulatory sequences of the SRY gene from 10 different species of mammals.

Iron refractory iron deficiency anemia

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

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

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases

Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms.

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom

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

Population screening for hemochromatosis: a study in 5370 Spanish blood donors.

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls

SIREs: searching for iron-responsive elements.

The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2.

The actin binding protein profilin 2 is a novel regulator of iron homeostasis

The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.

The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2