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Papers by Monica Martinez

The Lancet Infectious Diseases, 2021

Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

The Journal of Heart and Lung Transplantation, 2005

Background: Fetal progenitor cells may cross the placenta during pregnancy, persist for decades i... more Background: Fetal progenitor cells may cross the placenta during pregnancy, persist for decades in the maternal bloodstream, and find a microenvironment conducive to colonization in a variety of maternal solid organs. Whether extracardiac fetal progenitors are present in the heart of women with male issue is unknown. Methods: The hearts from 2 non-pregnant women who had given birth to 2 and 3 male children, respectively, were studied. Myocardial specimens from 2 men and 2 women (without history of pregnancies) were used as controls. Real time polymerase chain reaction was performed to amplify the SRY gene located at the Y chromosome. Fluorescence in situ hybridization (FISH) with probes specific for X and Y chromosomes was combined with ␣-actin immunohistochemistry to identify cardiac muscle cells. Histocompatibility studies were conducted in both patients and their male relatives. Results: The SRY gene was amplified in the myocardium of both patients. FISH analysis showed clear evidence of male cells with the typical cardiomyocyte phenotype within the myocardium. X-and Y-chromosome bodies in the nuclei were found in 0.25% and 0.20% of cells, respectively. Increased human leukocyte antigen compatibility was observed between patients and their sons. Conclusions: This study identified male cardiomyocytes of extracardiac origin, presumably fetal, in the hearts of 2 women with male progeny. Fetal progenitor cells may colonize the heart and under appropriate microenvironmental stimuli, differentiate into cardiomyocytes.

Human Mutation, 2013

IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurre... more IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by biallelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with

Leukemia & Lymphoma, 2005

Signal transducers and activators of transcription (STAT) proteins comprise a family of transcrip... more Signal transducers and activators of transcription (STAT) proteins comprise a family of transcription factors that have been implicated in tumoral transformation, especially in hematological malignancies. Because of this, the JAK/STAT pathway is attractive as a therapeutic target in these tumors. In the present study, we analyzed the ability of fludarabine and two JAK kinase inhibitors, AG490 and WHI-P131, to block STAT1 activation and induce apoptosis on B-cell chronic lymphocytic leukemia (B-CLL) cells. All drugs were able to induce a high percentage of apoptosis on B-CLL cells from all patients studied. However, only AG490 and WHI-P131 were able to strongly suppress the STAT1 activation of B-CLL cells. In conclusion, our data show that JAK kinase inhibitors, such as AG490 and WHI-P131 are able to inhibit the STAT1 pathway on B-CLL cells and are strong inductors of apoptosis on these cells.

Arthritis & Rheumatism, 1988

The characteristics of the Scl-70 antigen (topoisomerase I) have been analyzed by means of autoan... more The characteristics of the Scl-70 antigen (topoisomerase I) have been analyzed by means of autoantibodies. This antigen is a DNA-binding protein, dissociable from DNA at 0.3M NaCl and bound to a fraction of DNA that is very sensitive to nucleases. The molecular weight of the antigen is 105,000 daltons, whether dissociation conditions are used or not. Using chicken erythrocytes, and taking advantage of the strong interaction of the antigen with hydroxyapatite, we have designed a simple and fast purification protocol that allows the determination of anti-topoisomerase I antibodies by enzyme-linked immunosorbent assay.

Human Mutation, 2013

IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurre... more IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by bi-allelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database (www.LOVD.nl/IL12RB1). In this article, we review the function of IL-12Rβ1 and molecular genetics of human IL12RB1.

Leukemia & Lymphoma, 2005

Signal transducers and activators of transcription (STAT) proteins comprise a family of transcrip... more Signal transducers and activators of transcription (STAT) proteins comprise a family of transcription factors that have been implicated in tumoral transformation, especially in hematological malignancies. Because of this, the JAK/STAT pathway is attractive as a therapeutic target in these tumors. In the present study, we analyzed the ability of fludarabine and two JAK kinase inhibitors, AG490 and WHI-P131, to block STAT1 activation and induce apoptosis on B-cell chronic lymphocytic leukemia (B-CLL) cells. All drugs were able to induce a high percentage of apoptosis on B-CLL cells from all patients studied. However, only AG490 and WHI-P131 were able to strongly suppress the STAT1 activation of B-CLL cells. In conclusion, our data show that JAK kinase inhibitors, such as AG490 and WHI-P131 are able to inhibit the STAT1 pathway on B-CLL cells and are strong inductors of apoptosis on these cells.

The Lancet Infectious Diseases, 2021

Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

The Journal of Heart and Lung Transplantation, 2005

Background: Fetal progenitor cells may cross the placenta during pregnancy, persist for decades i... more Background: Fetal progenitor cells may cross the placenta during pregnancy, persist for decades in the maternal bloodstream, and find a microenvironment conducive to colonization in a variety of maternal solid organs. Whether extracardiac fetal progenitors are present in the heart of women with male issue is unknown. Methods: The hearts from 2 non-pregnant women who had given birth to 2 and 3 male children, respectively, were studied. Myocardial specimens from 2 men and 2 women (without history of pregnancies) were used as controls. Real time polymerase chain reaction was performed to amplify the SRY gene located at the Y chromosome. Fluorescence in situ hybridization (FISH) with probes specific for X and Y chromosomes was combined with ␣-actin immunohistochemistry to identify cardiac muscle cells. Histocompatibility studies were conducted in both patients and their male relatives. Results: The SRY gene was amplified in the myocardium of both patients. FISH analysis showed clear evidence of male cells with the typical cardiomyocyte phenotype within the myocardium. X-and Y-chromosome bodies in the nuclei were found in 0.25% and 0.20% of cells, respectively. Increased human leukocyte antigen compatibility was observed between patients and their sons. Conclusions: This study identified male cardiomyocytes of extracardiac origin, presumably fetal, in the hearts of 2 women with male progeny. Fetal progenitor cells may colonize the heart and under appropriate microenvironmental stimuli, differentiate into cardiomyocytes.

Human Mutation, 2013

IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurre... more IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by biallelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with

Leukemia & Lymphoma, 2005

Signal transducers and activators of transcription (STAT) proteins comprise a family of transcrip... more Signal transducers and activators of transcription (STAT) proteins comprise a family of transcription factors that have been implicated in tumoral transformation, especially in hematological malignancies. Because of this, the JAK/STAT pathway is attractive as a therapeutic target in these tumors. In the present study, we analyzed the ability of fludarabine and two JAK kinase inhibitors, AG490 and WHI-P131, to block STAT1 activation and induce apoptosis on B-cell chronic lymphocytic leukemia (B-CLL) cells. All drugs were able to induce a high percentage of apoptosis on B-CLL cells from all patients studied. However, only AG490 and WHI-P131 were able to strongly suppress the STAT1 activation of B-CLL cells. In conclusion, our data show that JAK kinase inhibitors, such as AG490 and WHI-P131 are able to inhibit the STAT1 pathway on B-CLL cells and are strong inductors of apoptosis on these cells.

Arthritis & Rheumatism, 1988

The characteristics of the Scl-70 antigen (topoisomerase I) have been analyzed by means of autoan... more The characteristics of the Scl-70 antigen (topoisomerase I) have been analyzed by means of autoantibodies. This antigen is a DNA-binding protein, dissociable from DNA at 0.3M NaCl and bound to a fraction of DNA that is very sensitive to nucleases. The molecular weight of the antigen is 105,000 daltons, whether dissociation conditions are used or not. Using chicken erythrocytes, and taking advantage of the strong interaction of the antigen with hydroxyapatite, we have designed a simple and fast purification protocol that allows the determination of anti-topoisomerase I antibodies by enzyme-linked immunosorbent assay.

Human Mutation, 2013

IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurre... more IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12Rβ1 is a receptor chain of both the IL-12 and the IL-23 receptor and deficiency of IL-12Rβ1 thus abolishes both IL-12 and IL-23 signaling. IL-12Rβ1 deficiency is caused by bi-allelic mutations in the IL12RB1 gene. Mutations resulting in premature stop codons, such as nonsense, frame shift, and splice site mutations, represent the majority of IL-12Rβ1 deficiency causing mutations (66%; 46/70). Also every other morbid mutation completely inactivates the IL-12Rβ1 protein. In addition to disease-causing mutations, rare and common variations with unknown functional effect have been reported in IL12RB1. All these variants have been deposited in the online IL12RB1 variation database (www.LOVD.nl/IL12RB1). In this article, we review the function of IL-12Rβ1 and molecular genetics of human IL12RB1.

Leukemia & Lymphoma, 2005

Signal transducers and activators of transcription (STAT) proteins comprise a family of transcrip... more Signal transducers and activators of transcription (STAT) proteins comprise a family of transcription factors that have been implicated in tumoral transformation, especially in hematological malignancies. Because of this, the JAK/STAT pathway is attractive as a therapeutic target in these tumors. In the present study, we analyzed the ability of fludarabine and two JAK kinase inhibitors, AG490 and WHI-P131, to block STAT1 activation and induce apoptosis on B-cell chronic lymphocytic leukemia (B-CLL) cells. All drugs were able to induce a high percentage of apoptosis on B-CLL cells from all patients studied. However, only AG490 and WHI-P131 were able to strongly suppress the STAT1 activation of B-CLL cells. In conclusion, our data show that JAK kinase inhibitors, such as AG490 and WHI-P131 are able to inhibit the STAT1 pathway on B-CLL cells and are strong inductors of apoptosis on these cells.