| Year |
Citation |
Score |
| 2024 |
Iolascon A, Andolfo I, Russo R, Sanchez M, Busti F, Swinkels D, Aguilar Martinez P, Bou-Fakhredin R, Muckenthaler MU, Unal S, Porto G, Ganz T, Kattamis A, De Franceschi L, Cappellini MD, et al. Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia. Hemasphere. 8: e108. PMID 39011129 DOI: 10.1002/hem3.108 |
0.336 |
|
| 2023 |
Maus M, López-Polo V, Mateo L, Lafarga M, Aguilera M, De Lama E, Meyer K, Sola A, Lopez-Martinez C, López-Alonso I, Guasch-Piqueras M, Hernandez-Gonzalez F, Chaib S, Rovira M, Sanchez M, et al. Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype. Nature Metabolism. 5: 2111-2130. PMID 38097808 DOI: 10.1038/s42255-023-00928-2 |
0.36 |
|
| 2022 |
Romero-Cortadellas L, Hernández G, Ferrer-Cortès X, Zalba-Jadraque L, Fuster JL, Bermúdez-Cortés M, Galera-Miñarro AM, Pérez-Montero S, Tornador C, Sánchez M. New Cases of Hypochromic Microcytic Anemia Due to Mutations in the Gene and Functional Characterization of the G75R Mutation. International Journal of Molecular Sciences. 23. PMID 35457224 DOI: 10.3390/ijms23084406 |
0.425 |
|
| 2021 |
Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, et al. New Mutations in and Genes Causing Non -Related Hereditary Hemochromatosis. Genes. 12. PMID 34946929 DOI: 10.3390/genes12121980 |
0.31 |
|
| 2021 |
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M. Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases. International Journal of Molecular Sciences. 22. PMID 34064225 DOI: 10.3390/ijms22115451 |
0.425 |
|
| 2021 |
Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc'h K, Yien YY, Kannengiesser C, Gouya L, Puy H, Sanchez M. A mutation in the iron-responsive element of is a modifier of disease severity in a patient suffering from associated erythropoietic protoporphyria. Haematologica. PMID 33596641 DOI: 10.3324/haematol.2020.272450 |
0.373 |
|
| 2020 |
Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jové-Buxeda E, Sanchez-Delgado J, ... ... Sanchez M, et al. Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. International Journal of Molecular Sciences. 21. PMID 32235485 DOI: 10.3390/Ijms21072374 |
0.445 |
|
| 2019 |
Cadenas B, Fita-Torró J, Bermúdez-Cortés M, Hernandez-Rodriguez I, Fuster JL, Llinares ME, Galera AM, Romero JL, Pérez-Montero S, Tornador C, Sanchez M. L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases. Pharmaceuticals (Basel, Switzerland). 12. PMID 30678075 DOI: 10.3390/Ph12010017 |
0.43 |
|
| 2018 |
Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, ... ... Sanchez M, et al. The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. PMID 30026338 DOI: 10.3324/Haematol.2017.182659 |
0.348 |
|
| 2017 |
Van de Sompele S, Pécheux L, Couso J, Meunier A, Sanchez M, De Baere E. 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 Reports. 7: 18025. PMID 29269865 DOI: 10.1038/S41598-017-18326-6 |
0.455 |
|
| 2017 |
Luscieti S, Galy B, Gutierrez L, Reinke M, Couso J, Shvartsman M, Di Pascale A, Witke W, Hentze MW, Pilo Boyl P, Sanchez M. The actin binding protein profilin 2 is a novel regulator of iron homeostasis. Blood. PMID 28774878 DOI: 10.1182/Blood-2016-11-754382 |
0.454 |
|
| 2015 |
Joshi R, Shvartsman M, Morán E, Lois S, Aranda J, Barqué A, de la Cruz X, Bruguera M, Vagace JM, Gervasini G, Sanz C, Sánchez M. Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. Molecular Genetics & Genomic Medicine. 3: 221-32. PMID 26029709 DOI: 10.1002/Mgg3.136 |
0.423 |
|
| 2014 |
De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, ... ... Sanchez M, et al. Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. Human Mutation. 35: 1321-9. PMID 25156943 DOI: 10.1002/Humu.22632 |
0.442 |
|
| 2014 |
Tzou WS, Chu Y, Lin TY, Hu CH, Pai TW, Liu HF, Lin HJ, Cases I, Rojas A, Sanchez M, You ZY, Hsu MW. Molecular evolution of multiple-level control of heme biosynthesis pathway in animal kingdom. Plos One. 9: e86718. PMID 24489775 DOI: 10.1371/Journal.Pone.0086718 |
0.318 |
|
| 2014 |
Luscieti S, Boyl PP, Galy B, Gutierrez L, Shvartsman M, Morales MP, Hentze MW, Witke W, Sanchez M. Profilin2 is controlled by the Iron Regulatory Proteins and modulates iron homeostasis Blood. 124: 749-749. DOI: 10.1182/Blood.V124.21.749.749 |
0.449 |
|
| 2013 |
Athiyarath R, Arora N, Fuster F, Schwarzenbacher R, Ahmed R, George B, Chandy M, Srivastava A, Rojas AM, Sanchez M, Edison ES. Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications. British Journal of Haematology. 163: 404-7. PMID 23888904 DOI: 10.1111/Bjh.12487 |
0.329 |
|
| 2013 |
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. Iron refractory iron deficiency anemia. Haematologica. 98: 845-53. PMID 23729726 DOI: 10.3324/Haematol.2012.075515 |
0.46 |
|
| 2013 |
Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Morán É, Muckenthaler MU, Sánchez M. Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. Orphanet Journal of Rare Diseases. 8: 30. PMID 23421845 DOI: 10.1186/1750-1172-8-30 |
0.469 |
|
| 2012 |
Liu Z, Lanford R, Mueller S, Gerhard GS, Luscieti S, Sanchez M, Devireddy L. Siderophore-mediated iron trafficking in humans is regulated by iron. Journal of Molecular Medicine (Berlin, Germany). 90: 1209-21. PMID 22527885 DOI: 10.1007/S00109-012-0899-7 |
0.456 |
|
| 2011 |
Sanchez M, Galy B, Schwanhaeusser B, Blake J, Bähr-Ivacevic T, Benes V, Selbach M, Muckenthaler MU, Hentze MW. Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins. Blood. 118: e168-79. PMID 21940823 DOI: 10.1182/Blood-2011-04-343541 |
0.444 |
|
| 2011 |
Rodrigues PN, Gomes SS, Neves JV, Gomes-Pereira S, Correia-Neves M, Nunes-Alves C, Stolte J, Sanchez M, Appelberg R, Muckenthaler MU, Gomes MS. Mycobacteria-induced anaemia revisited: a molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin. Immunobiology. 216: 1127-34. PMID 21601942 DOI: 10.1016/J.Imbio.2011.04.004 |
0.349 |
|
| 2011 |
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 96: 808-13. PMID 21393332 DOI: 10.3324/Haematol.2010.039164 |
0.391 |
|
| 2010 |
Campillos M, Cases I, Hentze MW, Sanchez M. SIREs: searching for iron-responsive elements. Nucleic Acids Research. 38: W360-7. PMID 20460462 DOI: 10.1093/Nar/Gkq371 |
0.411 |
|
| 2009 |
Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sardà MP, Baiget M, Remacha A, Velasco G, López-Otín C. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Human Molecular Genetics. 18: 3673-83. PMID 19592582 DOI: 10.1093/Hmg/Ddp315 |
0.459 |
|
| 2007 |
Percy MJ, Sanchez M, Swierczek S, McMullin MF, Mojica-Henshaw MP, Muckenthaler MU, Prchal JT, Hentze MW. Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element? Blood. 110: 2776-7. PMID 17881647 DOI: 10.1182/Blood-2007-03-082503 |
0.33 |
|
| 2007 |
Sanchez M, Galy B, Muckenthaler MU, Hentze MW. Iron-regulatory proteins limit hypoxia-inducible factor-2alpha expression in iron deficiency. Nature Structural & Molecular Biology. 14: 420-6. PMID 17417656 DOI: 10.1038/Nsmb1222 |
0.45 |
|
| 2006 |
Sanchez M, Galy B, Dandekar T, Bengert P, Vainshtein Y, Stolte J, Muckenthaler MU, Hentze MW. 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. The Journal of Biological Chemistry. 281: 22865-74. PMID 16760464 DOI: 10.1074/Jbc.M603876200 |
0.445 |
|
| 2004 |
Roy CN, Custodio AO, de Graaf J, Schneider S, Akpan I, Montross LK, Sanchez M, Gaudino A, Hentze MW, Andrews NC, Muckenthaler MU. An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice. Nature Genetics. 36: 481-5. PMID 15098034 DOI: 10.1038/Ng1350 |
0.423 |
|
| 2003 |
Sánchez M, Villa M, Ingelmo M, Sanz C, Bruguera M, Ascaso C, Oliva R. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. Journal of Hepatology. 38: 745-50. PMID 12763366 DOI: 10.1016/S0168-8278(03)00123-5 |
0.418 |
|
| 2001 |
Sánchez M, Bruguera M, Rodés J, Oliva R. Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms. Blood Cells Molecules and Diseases. 27: 35-43. PMID 11358357 DOI: 10.1006/Bcmd.2000.0346 |
0.37 |
|
| 2000 |
Sánchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rodés J, Oliva R. Hereditary Hemochromatosis in Spain Genetic Testing. 4: 171-176. PMID 10953957 DOI: 10.1089/10906570050114885 |
0.367 |
|
| 1999 |
Sánchez M, Bruguera M, Bosch J, Rodes J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls European Journal of Gastroenterology & Hepatology. 11: 52. DOI: 10.1097/00042737-199901000-00013 |
0.359 |
|
| 1998 |
Sánchez M, Queralt R, Bruguera M, Rodés J, Oliva R. Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regions Gene. 225: 77-87. PMID 9931446 DOI: 10.1016/S0378-1119(98)00519-8 |
0.31 |
|
| 1998 |
Sánchez M, Bruguera M, Bosch J, Rodés J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls Journal of Hepatology. 29: 725-728. PMID 9833909 DOI: 10.1016/S0168-8278(98)80252-3 |
0.36 |
|
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