Search Results - "Zaragoza, V"

Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing by Zaragoza, Michael V, Fass, Joseph, Diegoli, Marta, Lin, Dawei, Arbustini, Eloisa

“…Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In…”
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Allergic contact dermatitis in adults with and without atopic dermatitis: Evaluation of the Spanish Contact Dermatitis Registry (REIDAC) by Chicharro, P., Munera‐Campos, M., Zaragoza‐Ninet, V., Giménez‐Arnau, A., González‐Pérez, R., Miquel‐Miquel, F. J., Córdoba‐Guijarro, S., Sanz‐Sánchez, T., Ruiz‐González, I., Silvestre‐Salvador, J. F., Serra‐Baldrich, E., Borrego, L., Pastor‐Nieto, M. A., Ortiz de Frutos, F. J., Mercader‐García, P., Heras‐Mendaza, F., Fernández‐Redondo, V., Rodríguez‐Serna, M., Hervella‐García, M., Carrascosa, J. M., Gallego‐Descalzo, M. A., García‐Doval, I., Sánchez‐Pérez, J.

“…Background Atopic dermatitis (AD) and allergic contact dermatitis (ACD) are inflammatory skin conditions whose association is not clearly defined. Objectives…”
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Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis by Widyastuti, Halida P, Norden-Krichmar, Trina M, Grosberg, Anna, Zaragoza, Michael V

“…Abstract Background Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are…”
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Dupilumab for atopic dermatitis during pregnancy and breastfeeding: Clinical experience in 13 patients by Escolà, H., Figueras‐Nart, I., Bonfill‐Orti, M., Coll Puigserver, N., Martin‐Santiago, A., Rodríguez Serna, M., Sánchez Hernández, M. C., Sanz‐Cabanillas, J. L., Taberner, R., Zaragoza‐Ninet, V., Pujol, R. M., Curto‐Barredo, L.

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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death by Zaragoza, Michael V, Fung, Lianna, Jensen, Ember, Oh, Frances, Cung, Katherine, McCarthy, Linda A, Tran, Christine K, Hoang, Van, Hakim, Simin A, Grosberg, Anna

“…The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial…”
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Treatment of Severe Atopic Dermatitis With Upadacitinib in Clinical Practice: Short-Term Efficacy and Safety Results by Pereyra-Rodriguez, J J, Herranz, P, Figueras-Nart, I, Perez, B, Elosua, M, Munera-Campos, C, Melgosa-Ramos, J, Zaragoza, V, Silvestre, J F, Campos-Domínguez, M, Guilabert, A, Miquel, J, Alcantara-Luna, S, Serra-Baldrich, E, Armario-Hita, J C

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Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations by Core, Jason Q, Mehrabi, Mehrsa, Robinson, Zachery R, Ochs, Alexander R, McCarthy, Linda A, Zaragoza, Michael V, Grosberg, Anna

“…Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms,…”
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Efficacy and Safety of Dupilumab for the Treatment of Severe Atopic Dermatitis in Clinical Practice: A Single Center Experience by Martínez-Doménech, A., Zaragoza-Ninet, V., Esteve-Martínez, A., García-Rabasco, A., Sánchez-Carazo, J.L., Pérez-Ferriols, A.

“…Dupilumab is a new targeted therapy for severe atopic dermatitis (AD) with limited real-world evidence. Explore our experience with dupilumab for AD in…”
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LMNA -Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency by Zaragoza, Michael V, Bui, Thuy-Anh, Widyastuti, Halida P, Mehrabi, Mehrsa, Cang, Zixuan, Sha, Yutong, Grosberg, Anna, Nie, Qing

“…-related dilated cardiomyopathy (DCM) is an autosomal-dominant genetic condition with cardiomyocyte and conduction system dysfunction often resulting in heart…”
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Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny by ZARAGOZA, Michael V, BRANDON, Martin C, DIEGOLI, Marta, ARBUSTINI, Eloisa, WALLACE, Douglas C

“…Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. Owing to a high mutation rate,…”
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Photoallergic contact dermatitis to topical ketoconazole by Martínez‐Doménech, A., García‐Legaz‐Martínez, M., Valenzuela‐Oñate, C., Magdaleno‐Tapial, J., Zaragoza‐Ninet, V., Sánchez‐Carazo, JL, Pérez‐Ferriols, A.

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Heart‐hand syndrome IV: a second family with LMNA‐related cardiomyopathy and brachydactyly by Zaragoza, M.V., Hakim, S.A., Hoang, V., Elliott, A.M.

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Adenine Nucleotide Translocase 1 Deficiency Results in Dilated Cardiomyopathy With Defects in Myocardial Mechanics, Histopathological Alterations, and Activation of Apoptosis by Narula, Nupoor, BS, Zaragoza, Michael V., MD, PhD, Sengupta, Partho P., MBBS, Li, Peng, MD, PhD, Haider, Nezam, PhD, Verjans, Johan, MD, Waymire, Katrina, MA, Vannan, Mani, MD, Wallace, Douglas C., PhD

“…Objectives The aim of this study was to test the hypothesis that chronic mitochondrial energy deficiency causes dilated cardiomyopathy, we characterized the…”
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Anticuerpos de Trypanosoma cruzi, Leishmania mexicana y Leishmania braziliensis en perros domiciliados de Tabasco, México by Arjona J, Guadalupe, Zaragoza V, Maritza, Zaragoza V, Claudia, García Herrera, Ricardo, Sánchez M, Manuel, Santamaria M, Eliut, Cruz B, Luis

“…Objetivo. Determinar la frecuencia de anticuerpos circulantes de Trypanosoma cruzi (T. cruzi), Leishmania mexicana (L. mexicana) y Leishmania braziliensis (L…”
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Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene by Zaragoza, Michael V, Nguyen, Cecilia H H, Widyastuti, Halida P, McCarthy, Linda A, Grosberg, Anna

“…Dupuytren's disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis)…”
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Photoallergic Contact Dermatitis Due to Chlorpromazine: A Report of 2 Cases by Esteve-Martínez, A, Ninet Zaragoza, V, de la Cuadra Oyanguren, J, Oliver-Martínez, V

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Identification of the TBX5 transactivating domain and the nuclear localization signal by Zaragoza, Michael V., Lewis, Lisa E., Sun, Guifeng, Wang, Eric, Li, Ling, Said-Salman, Ilham, Feucht, Laura, Huang, Taosheng

“…TBX5 is a member of the T-box gene family and encodes a transcription factor involved in cardiac and limb development. Mutations of TBX5 cause Holt–Oram…”
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Infantile systemic hyalinosis: Case report and review of the literature by Lindvall, Lisa E., MS, Kormeili, Tanya, MD, Chen, Elaine, BA, Ramirez, Maria Celeste M., PhD, Grum-Tokars, Valerie, PhD, Glucksman, Marc J., PhD, Martignetti, John A., MD, PhD, Zaragoza, Michael V., MD, PhD, Dyson, Senait W., MD

“…Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically…”
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Antibodies of Trypanosoma cruzi, Leishmania mexicana and Leishmania braziliensis in domiciled dogs in Tabasco, Mexico by Arjona J, Guadalupe, Zaragoza V, Maritza, Zaragoza V, Claudia, García Herrera, Ricardo, Sánchez M, Manuel, Santamaria M, Eliut, Cruz B, Luis

“…ABSTRACT Objective. To determine Trypanosoma cruzi (T. cruzi), Leishmania mexicana (L.mexicana) and Leishmania braziliensis (L.braziliensis) circulating…”
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Parental Origin and Phenotype of Triploidy in Spontaneous Abortions: Predominance of Diandry and Association with the Partial Hydatidiform Mole by Zaragoza, Michael V., Surti, Urvashi, Redline, Raymond W., Millie, Elise, Chakravarti, Aravinda, Hassold, Terry J.

“…The origin of human triploidy is controversial. Early cytogenetic studies found the majority of cases to be paternal in origin; however, recent molecular…”
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