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292 results on '"Lerario, Antonio M."'

1. Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism

Author

Rege, Juilee, Bandulik, Sascha, Nanba, Kazutaka, Kosmann, Carla, Blinder, Amy R., Plain, Allein, Vats, Pankaj, Kumar-Sinha, Chandan, Lerario, Antonio M., Else, Tobias, Yamazaki, Yuto, Satoh, Fumitoshi, Sasano, Hironobu, Giordano, Thomas J., Williams, Tracy Ann, Reincke, Martin, Turcu, Adina F., Udager, Aaron M., Warth, Richard, and Rainey, William E.

Published
2023
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3. Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population

Author

Neves, Precil D., Watanabe, Andreia, Watanabe, Elieser H., Narcizo, Amanda M., Nunes, Kelly, Lerario, Antonio M., Ferreira, Frederico M., Cavalcante, Lívia B., Wongboonsin, Janewit, Malheiros, Denise M., Jorge, Lectícia B., Sampson, Matthew G., Noronha, Irene L., and Onuchic, Luiz F.

Published
2024
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8. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Author

Zheng, Siyuan, Cherniack, Andrew D, Dewal, Ninad, Moffitt, Richard A, Danilova, Ludmila, Murray, Bradley A, Lerario, Antonio M, Else, Tobias, Knijnenburg, Theo A, Ciriello, Giovanni, Kim, Seungchan, Assie, Guillaume, Morozova, Olena, Akbani, Rehan, Shih, Juliann, Hoadley, Katherine A, Choueiri, Toni K, Waldmann, Jens, Mete, Ozgur, Robertson, A Gordon, Wu, Hsin-Ta, Raphael, Benjamin J, Shao, Lina, Meyerson, Matthew, Demeure, Michael J, Beuschlein, Felix, Gill, Anthony J, Sidhu, Stan B, Almeida, Madson Q, Fragoso, Maria CBV, Cope, Leslie M, Kebebew, Electron, Habra, Mouhammed A, Whitsett, Timothy G, Bussey, Kimberly J, Rainey, William E, L., Sylvia, Bertherat, Jérôme, Fassnacht, Martin, Wheeler, David A, Network, The Cancer Genome Atlas Research, Verhaak, Roel GW, Giordano, Thomas J, Hammer, Gary D, Assié, Guillaume, Wu, Hsin-Tu, Almeida, Madson, Fragoso, Maria Candida Barisson, Habra, Mouhammed Amir, Benz, Christopher, Ally, Adrian, Balasundaram, Miruna, Bowlby, Reanne, Brooks, Denise, Butterfield, Yaron SN, Carlsen, Rebecca, Dhalla, Noreen, Guin, Ranabir, Holt, Robert A, Jones, Steven JM, Kasaian, Katayoon, Lee, Darlene, Li, Haiyan I, Lim, Lynette, Ma, Yussanne, and Marra, Marco A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Cancer, Rare Diseases, Biotechnology, Clinical Research, Adolescent, Adrenal Cortex Neoplasms, Adrenocortical Carcinoma, Adult, Aged, Aged, 80 and over, Child, DNA Methylation, Disease-Free Survival, Female, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genome, Human, Genomics, Humans, Male, Middle Aged, Mutation, Outcome Assessment, Health Care, Prognosis, Young Adult, Cancer Genome Atlas Research Network, Neurosciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Biochemistry and cell biology, Oncology and carcinogenesis
Abstract

We describe a comprehensive genomic characterization of adrenocortical carcinoma (ACC). Using this dataset, we expand the catalogue of known ACC driver genes to include PRKAR1A, RPL22, TERF2, CCNE1, and NF1. Genome wide DNA copy-number analysis revealed frequent occurrence of massive DNA loss followed by whole-genome doubling (WGD), which was associated with aggressive clinical course, suggesting WGD is a hallmark of disease progression. Corroborating this hypothesis were increased TERT expression, decreased telomere length, and activation of cell-cycle programs. Integrated subtype analysis identified three ACC subtypes with distinct clinical outcome and molecular alterations which could be captured by a 68-CpG probe DNA-methylation signature, proposing a strategy for clinical stratification of patients based on molecular markers.

Published
2016

12. Idiopathic collapsing glomerulopathy is associated with APOL1high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population

Author

Neves, Precil D., Watanabe, Andreia, Watanabe, Elieser H., Narcizo, Amanda M., Nunes, Kelly, Lerario, Antonio M., Ferreira, Frederico M., Cavalcante, Lívia B., Wongboonsin, Janewit, Malheiros, Denise M., Jorge, Lectícia B., Sampson, Matthew G., Noronha, Irene L., and Onuchic, Luiz F.

Abstract

Collapsing glomerulopathy (CG) is most often associated with fast progression to kidney failure with an incidence apparently higher in Brazil than in other countries. However, the reason for this occurrence is unknown. To better understand this, we performed an integrated analysis of clinical, histological, therapeutic, causative genetic and genetic ancestry data in a highly genetically admixed cohort of 70 children and adult patients with idiopathic CG (ICG). The disease onset occurred at 23 (interquartile range: 17-31) years and approximately half of patients progressed to chronic kidney disease requiring kidney replacement therapy (CKD-KRT) 36 months after diagnosis. Causative genetic bases, assessed by targeted-gene panel or whole-exome sequencing, were identified in 58.6% of patients. Among these cases, 80.5% harbored APOL1high-risk genotypes (HRG) and 19.5% causative Mendelian variants (MV). Self-reported non-White patients more frequently had HRG. MV was an independent risk factor for progression to CKD-KRT by 36 months and the end of follow-up, while remission was an independent protective factor. All patients with HRG manifested CG at 9-44 years of age, whereas in those with APOL1low-risk genotype, the disease arose throughout life. HRGs were associated with higher proportion of African genetic ancestry. Novel causative MVs were identified in COL4A5, COQ2and PLCE1and previously described causative MVs were identified in MYH9, TRPC6, COQ2, COL4A3and TTC21B. Three patients displayed HRG combined with a variant of uncertain significance (ITGB4, LAMA5or PTPRO). MVs were associated with worse kidney prognosis. Thus, our data reveal that the genetic status plays a major role in ICG pathogenesis, accounting for more than half of cases in a highly admixed Brazilian population.

Published
2024
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15. Abstract 1501: Epigenetic dedifferentiation as a therapeutic strategy in adrenal cancer

Author

Mohan, Dipika R., primary, Borges, Kleiton S., additional, Finco, Isabella, additional, LaPensee, Christopher R., additional, Rege, Juilee, additional, Little, Donald W., additional, Else, Tobias, additional, Almeida, Madson Q., additional, Dang, Derek, additional, Haggerty-Skeans, James, additional, Latronico, Ana Claudia, additional, Mendonca, Berenice B., additional, Auchus, Richard J., additional, Rainey, William E., additional, Marie, Suely K., additional, Giordano, Thomas J., additional, Venneti, Sriram, additional, Fragoso, Maria Candida B., additional, Breault, David T., additional, Lerario, Antonio M., additional, and Hammer, Gary D., additional

Published
2023
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16. Supplementary Figure S4 from Statins Reduce Intratumor Cholesterol Affecting Adrenocortical Cancer Growth

Author

Trotta, Francesca, primary, Avena, Paola, primary, Chimento, Adele, primary, Rago, Vittoria, primary, De Luca, Arianna, primary, Sculco, Sara, primary, Nocito, Marta C., primary, Malivindi, Rocco, primary, Fallo, Francesco, primary, Pezzani, Raffaele, primary, Pilon, Catia, primary, Lasorsa, Francesco M., primary, Barile, Simona N., primary, Palmieri, Luigi, primary, Lerario, Antonio M., primary, Pezzi, Vincenzo, primary, Casaburi, Ivan, primary, and Sirianni, Rosa, primary

Published
2023
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17. Data from Statins Reduce Intratumor Cholesterol Affecting Adrenocortical Cancer Growth

Author

Trotta, Francesca, primary, Avena, Paola, primary, Chimento, Adele, primary, Rago, Vittoria, primary, De Luca, Arianna, primary, Sculco, Sara, primary, Nocito, Marta C., primary, Malivindi, Rocco, primary, Fallo, Francesco, primary, Pezzani, Raffaele, primary, Pilon, Catia, primary, Lasorsa, Francesco M., primary, Barile, Simona N., primary, Palmieri, Luigi, primary, Lerario, Antonio M., primary, Pezzi, Vincenzo, primary, Casaburi, Ivan, primary, and Sirianni, Rosa, primary

Published
2023
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18. Supplementary methods from Statins Reduce Intratumor Cholesterol Affecting Adrenocortical Cancer Growth

Author

Trotta, Francesca, primary, Avena, Paola, primary, Chimento, Adele, primary, Rago, Vittoria, primary, De Luca, Arianna, primary, Sculco, Sara, primary, Nocito, Marta C., primary, Malivindi, Rocco, primary, Fallo, Francesco, primary, Pezzani, Raffaele, primary, Pilon, Catia, primary, Lasorsa, Francesco M., primary, Barile, Simona N., primary, Palmieri, Luigi, primary, Lerario, Antonio M., primary, Pezzi, Vincenzo, primary, Casaburi, Ivan, primary, and Sirianni, Rosa, primary

Published
2023
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21. Targeting oncogenic Wnt/β-catenin signaling in adrenocortical carcinoma disrupts ECM expression and impairs tumor growth

Author

Penny, Morgan K., primary, Lerario, Antonio M., additional, Basham, Kaitlin J., additional, Chukkapalli, Sahiti, additional, Yu, Yingjie, additional, Mohan, Dipika R., additional, LaPensee, Chris, additional, Converso-Baran, Kimber, additional, Hoenerhoff, Mark J., additional, Fernández, Laura Suárez, additional, del Rey, Carmen González, additional, Giordano, Thomas J., additional, Han, Ruolan, additional, Newman, Erika A., additional, and Hammer, Gary D., additional

Published
2022
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22. PCNA thermosensitivity underlies an Ataxia Telangiectasia-like disorder

Author

Magrino, Joseph, primary, Munford, Veridiana, additional, Martins, Davi Jardim, additional, Homma, Thais K, additional, Page, Brendan, additional, Gaubitz, Christl, additional, Freire, Bruna L, additional, Lerario, Antonio M, additional, Vilar, Juliana Brandstetter, additional, Amorin, Antonio, additional, Leão, Emília K E, additional, Kok, Fernando, additional, Menck, Carlos F M, additional, Jorge, Alexander A L, additional, and Kelch, Brian A, additional

Published
2022
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27. Targeting Oncogenic Wnt/β-Catenin Signaling in Adrenocortical Carcinoma Disrupts ECM Expression and Impairs Tumor Growth.

Author

Penny, Morgan K., Lerario, Antonio M., Basham, Kaitlin J., Chukkapalli, Sahiti, Mohan, Dipika R., LaPensee, Chris, Converso-Baran, Kimber, Hoenerhoff, Mark J., Suárez-Fernández, Laura, Rey, Carmen González del, Giordano, Thomas J., Han, Ruolan, Newman, Erika A., and Hammer, Gary D.

Subjects
*ADENOCARCINOMA, *BIOLOGICAL models, *XENOGRAFTS, *ANIMAL experimentation, *CYTOSKELETAL proteins, *CELLULAR signal transduction, *GENE expression, *CELL survival, *GENE expression profiling, *RESEARCH funding, *ADRENAL tumors, *EXTRACELLULAR space, *PROGRESSION-free survival, *MICE
Abstract

Simple Summary: Adrenocortical carcinoma (ACC) is a rare, often deadly cancer arising from the adrenal gland. Mortality associated with ACC has remained unchanged over the last several decades. The rarity of ACC, an incomplete understanding of its molecular basis, and limited availability of pre-clinical models have hampered the development of novel therapeutic approaches. The present work aims to address these gaps with a focus on the Wnt/β-catenin cell signaling pathway, which is aberrantly activated in ~40% of ACC tumors. We discovered a novel ECM program activated in ACC that is associated with Wnt/β-catenin activation and poor survival. Wnt/β-catenin inhibition disrupted the expression of ECM genes and induced the loss of cancer cell viability. To extend these findings, we developed an orthotopic mouse model of rapidly progressive ACC and demonstrated that disruption of the Wnt/β-catenin axis with the novel small molecule inhibitor Tegavivint is a potential effective therapeutic strategy to reduce ACC tumor burden in vivo. Adrenocortical carcinoma (ACC) is a rare but highly aggressive cancer with limited treatment options and poor survival for patients with advanced disease. An improved understanding of the transcriptional programs engaged in ACC will help direct rational, targeted therapies. Whereas activating mutations in Wnt/β-catenin signaling are frequently observed, the β-catenin-dependent transcriptional targets that promote tumor progression are poorly understood. To address this question, we analyzed ACC transcriptome data and identified a novel Wnt/β-catenin-associated signature in ACC enriched for the extracellular matrix (ECM) and predictive of poor survival. This suggested an oncogenic role for Wnt/β-catenin in regulating the ACC microenvironment. We further investigated the minor fibrillar collagen, collagen XI alpha 1 (COL11A1), and found that COL11A1 expression originates specifically from cancer cells and is strongly correlated with both Wnt/β-catenin activation and poor patient survival. Inhibition of constitutively active Wnt/β-catenin signaling in the human ACC cell line, NCI-H295R, significantly reduced the expression of COL11A1 and other ECM components and decreased cancer cell viability. To investigate the preclinical potential of Wnt/β-catenin inhibition in the adrenal microenvironment, we developed a minimally invasive orthotopic xenograft model of ACC and demonstrated that treatment with the newly developed Wnt/β-catenin:TBL1 inhibitor Tegavivint significantly reduced tumor growth. Together, our data support that the inhibition of aberrantly active Wnt/β-catenin disrupts transcriptional reprogramming of the microenvironment and reduces ACC growth and survival. Furthermore, this β-catenin-dependent oncogenic program can be therapeutically targeted with a newly developed Wnt/β-catenin inhibitor. These results show promise for the further clinical development of Wnt/β-catenin inhibitors in ACC and unveil a novel Wnt/β-catenin-regulated transcriptome. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Somatic SLC30A1mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism

Author

Rege, Juilee, Bandulik, Sascha, Nanba, Kazutaka, Kosmann, Carla, Blinder, Amy R., Plain, Allein, Vats, Pankaj, Kumar-Sinha, Chandan, Lerario, Antonio M., Else, Tobias, Yamazaki, Yuto, Satoh, Fumitoshi, Sasano, Hironobu, Giordano, Thomas J., Williams, Tracy Ann, Reincke, Martin, Turcu, Adina F., Udager, Aaron M., Warth, Richard, and Rainey, William E.

Abstract

Primary aldosteronism (PA) is the most common form of endocrine hypertension and is characterized by inappropriately elevated aldosterone production via a renin-independent mechanism. Driver somatic mutations for aldosterone excess have been found in approximately 90% of aldosterone-producing adenomas (APAs). Other causes of lateralized adrenal PA include aldosterone-producing nodules (APNs). Using next-generation sequencing, we identified recurrent in-frame deletions in SLC30A1in four APAs and one APN (p.L51_A57del, n= 3; p.L49_L55del, n= 2). SLC30A1encodes the ubiquitous zinc efflux transporter ZnT1 (zinc transporter 1). The identified SLC30A1variants are situated close to the zinc-binding site (His43 and Asp47) in transmembrane domain II and probably cause abnormal ion transport. Cases of PA with SLC30A1mutations showed male dominance and demonstrated increased aldosterone and 18-oxocortisol concentrations. Functional studies of the SLC30A151_57delvariant in a doxycycline-inducible adrenal cell system revealed pathological Na+influx. An aberrant Na+current led to depolarization of the resting membrane potential and, thus, to the opening of voltage-gated calcium (Ca2+) channels. This resulted in an increase in cytosolic Ca2+activity, which stimulated CYP11B2mRNA expression and aldosterone production. Collectively, these data implicate zinc transporter alterations as a dominant driver of aldosterone excess in PA.

Published
2023
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32. Additional file 2 of Epigenetic regulation of innate immune memory in microglia

Author

Zhang, Xiaoming, Kracht, Laura, Lerario, Antonio M., Dubbelaar, Marissa L., Brouwer, Nieske, Wesseling, Evelyn M., Boddeke, Erik W. G. M., Eggen, Bart J. L., and Kooistra, Susanne M.

Abstract

Additional file 2: Fig. S2 related to Fig. 1, RNA-sequencing of desensitized/tolerant and primed/trained microglia. a, b, Average (a) and individual (b) bodyweight (gram) before (Day -3), on the day of and just before the LPS injection (Day 0) and up to 25 days after LPS injection. c, d, PCA-plots of RNA-seq data of microglia in the LPS desensitization tolerance (c) and Ercc1-induced priming (d) mouse models. Every dot depicts an individual animal (n = 3 per experimental condition). e, Volcano plots illustrating the similarity in the acute LPS response in microglia from naive mice. Dots represent log fold change (LogFC) of differential expressed genes between PL and PP (e). Genes were ranked according to their expression level and based on that classified into percentiles. Next, for each gene of the two comparisons, the delta percentile was calculated and indicated as colors in the volcano plot, where light blue indicates similar and dark blue indicates deviant expression between the indicated conditions. Gray dots indicate gene expression differences with logFC 0.01. f, g, Gene expression values (CPM) of genes in the tolerance (f) or priming (g) mouse model. Every dot depicts an individual animal (n = 3 per experimental condition). CPM = counts per million reads, g = gram

Published
2022
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33. Additional file 1 of Epigenetic regulation of innate immune memory in microglia

Author

Zhang, Xiaoming, Kracht, Laura, Lerario, Antonio M., Dubbelaar, Marissa L., Brouwer, Nieske, Wesseling, Evelyn M., Boddeke, Erik W. G. M., Eggen, Bart J. L., and Kooistra, Susanne M.

Subjects
nervous system
Abstract

Additional file 1: Fig. S1 related to Fig. 1, FACS sorting of microglia. a, Single, viable microglia are isolated using side scatter and forward scatter parameters, followed by exclusion of DAPIpos (dead) events. Further purification was done by exclusion of Ly-6Cpos CNS macrophages. b, CD11bpos and CD45int microglia were sorted.

Published
2022
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34. Additional file 4 of Epigenetic regulation of innate immune memory in microglia

Author

Zhang, Xiaoming, Kracht, Laura, Lerario, Antonio M., Dubbelaar, Marissa L., Brouwer, Nieske, Wesseling, Evelyn M., Boddeke, Erik W. G. M., Eggen, Bart J. L., and Kooistra, Susanne M.

Abstract

Additional file 4: Fig. S4. Related to Figs. 3 and 4, ATAC- and ChIP-sequencing peak enrichment at representative desensitized and primed gene loci. a, Experimental strategy for the analysis of chromatin accessibility, and occupation by histone modifications. H3K4me3 and H3K27ac were analyzed in ‘desensitized’ and ‘tolerant’ microglia. H3K4me1, H3K4me3 and H3K27ac were determined in ‘primed’ microglia. b, c, Tracks of ATAC and indicated histone marks sequencing data of representative desensitized/tolerant (b) and primed/trained (c) genes. For ChIP, chromatin of 5 mice per experimental group was pooled; for ATAC, microglia (80,000 total) from 2 mice per experimental group were pooled. Tracks were visualized using JetBrains SPAN peak analyzer. Gene expression of these genes are shown in S2F and S2G.

Published
2022
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35. Additional file 3 of Epigenetic regulation of innate immune memory in microglia

Author

Zhang, Xiaoming, Kracht, Laura, Lerario, Antonio M., Dubbelaar, Marissa L., Brouwer, Nieske, Wesseling, Evelyn M., Boddeke, Erik W. G. M., Eggen, Bart J. L., and Kooistra, Susanne M.

Subjects
lipids (amino acids, peptides, and proteins)
Abstract

Additional file 3: Fig. S3. Related to Fig. 2, LPS-downregulated genes and associated GO terms. a, Heatmap with Manhattan distance-based hierarchical clustering analysis of downregulated genes in response to LPS in microglia of C57BL/6 mice (n = 3 per experimental condition) three hours after i.p. injection with LPS (LogFC > 1 and FDR

Published
2022
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36. Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

Author

Narcizo, Amanda M., primary, Cardoso, Lais C., additional, Benedetti, Anna F.F., additional, Jorge, Alexander A.L., additional, Funari, Mariana F.A., additional, Braga, Barbara L., additional, Franca, Monica M., additional, Montenegro, Luciana R., additional, Lerario, Antonio M., additional, Nishi, Mirian Y., additional, and Mendonca, Berenice B., additional

Published
2022
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38. Extracellular Matrix Proteome Remodeling in Human Glioblastoma and Medulloblastoma

Author

Trombetta-Lima, Marina, primary, Rosa-Fernandes, Livia, additional, Angeli, Claudia B., additional, Moretti, Isabele F., additional, Franco, Yollanda M., additional, Mousessian, Adaliana S., additional, Wakamatsu, Alda, additional, Lerario, Antonio M., additional, Oba-Shinjo, Sueli M., additional, Pasqualucci, Carlos A., additional, Marie, Suely K. N., additional, and Palmisano, Giuseppe, additional

Published
2021
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39. Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias

Author

Leitao Braga, Barbara, primary, Lisboa Gomes, Nathalia, additional, Nishi, Mirian Y., additional, Freire, Bruna L., additional, Batista, Rafael L., additional, D. Faria Junior, Jose A., additional, Funari, Mariana F.A., additional, Figueredo Benedetti, Anna F., additional, de Moraes Narcizo, Amanda, additional, Cavalca Cardoso, Lais, additional, Lerario, Antonio M., additional, Guerra-Junior, Gil, additional, Frade Costa, Elaine M., additional, Domenice, Sorahia, additional, Jorge, Alexander A.L., additional, and Mendonca, Berenice B., additional

Published
2021
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41. Contributors

Author

Achermann, John C., primary, Auchus, Richard J., additional, Audran, Francoise, additional, Barseghyan, Hayk, additional, Beuschlein, Felix, additional, Bhangoo, Amrit, additional, Biason-Lauber, Anna, additional, Carvalho, Filomena Marino, additional, Cate, Richard L., additional, Coll, Mauricio, additional, Costa, Elaine M.F., additional, Dluhy, Robert G., additional, Domenice, Sorahia, additional, Flück, Christa E., additional, Funder, John W., additional, Gaspari, Laura, additional, Giordano, Thomas J., additional, Grumbach, Melvin M., additional, Gucev, Zoran S., additional, Halperin, Florencia, additional, Hammer, Gary D., additional, Inacio, Marlene, additional, Josso, Nathalie, additional, Kalfa, Nicolas, additional, Krishnan, Sowmya, additional, Kuhnle, Ursula, additional, Lekarev, Oksana, additional, Lerario, Antonio M., additional, Lin-Su, Karen, additional, Lonard, David M., additional, Machado, Aline Z., additional, Maimoun, Laurent, additional, Mancenido, Denesy, additional, Martin, Regina M., additional, Melmed, Shlomo, additional, Mendonca, Berenice B., additional, Meyer-Bahlburg, Heino F.L., additional, Miller, Walter L., additional, Morel, Yves, additional, New, Maria I., additional, Nimkarn, Saroj, additional, Nishi, Mirian Y., additional, O’Malley, Bert W., additional, Oliveira Junior, Ari A., additional, Pandey, Amit V., additional, Paris, Françoise, additional, Parsa, Alan, additional, Philibert, Pascal, additional, Picard, Jean-Yves, additional, Plotton, Ingrid, additional, Reichman, David E., additional, Reisch, Nicole, additional, Rink, Richard C., additional, Rosenwaks, Zev, additional, Roucher, Florence, additional, Russell, Jonathan F., additional, Russell, David W., additional, Simard, Jacques, additional, Simpson, Joe Leigh, additional, Speiser, Phyllis W., additional, Sultan, Charles, additional, Ten, Svetlana, additional, Tibor, Francisco Denes, additional, Vilain, Eric, additional, White, Perrin C., additional, Whittam, Benjamin, additional, Wilson, Jean D., additional, Wisniewski, Amy B., additional, Wong, Jenise C., additional, Xing, Yewei, additional, Yau, Mabel, additional, and Yuen, Tony, additional

Published
2014
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43. The phenotypic spectrum associated with OTX2 mutations in humans

Author

Gregory, Louise C, primary, Gergics, Peter, additional, Nakaguma, Marilena, additional, Bando, Hironori, additional, Patti, Giuseppa, additional, McCabe, Mark J, additional, Fang, Qing, additional, Ma, Qianyi, additional, Ozel, Ayse Bilge, additional, Li, Jun Z, additional, Poina, Michele Moreira, additional, Jorge, Alexander A L, additional, Benedetti, Anna F Figueredo, additional, Lerario, Antonio M, additional, Arnhold, Ivo J P, additional, Mendonca, Berenice B, additional, Maghnie, Mohamad, additional, Camper, Sally A, additional, Carvalho, Luciani R S, additional, and Dattani, Mehul T, additional

Published
2021
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45. Epigenetic regulation of innate immune memory in microglia

Author

Zhang, Xiaoming, primary, Kracht, Laura, additional, Lerario, Antonio M., additional, Dubbelaar, Marissa L., additional, Brouwer, Nieske, additional, Wesseling, Evelyn M., additional, Boddeke, Erik W.G.M., additional, Eggen, Bart J.L., additional, and Kooistra, Susanne M., additional

Published
2021
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47. Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism

Author

Rassi-Cruz, Marcela, primary, Maria, Andrea G, additional, Faucz, Fabio R, additional, London, Edra, additional, Vilela, Leticia A P, additional, Santana, Lucas S, additional, Benedetti, Anna Flavia F, additional, Goldbaum, Tatiana S, additional, Tanno, Fabio Y, additional, Srougi, Vitor, additional, Chambo, Jose L, additional, Pereira, Maria Adelaide A, additional, Cavalcante, Aline C B S, additional, Carnevale, Francisco C, additional, Pilan, Bruna, additional, Bortolotto, Luiz A, additional, F Drager, Luciano, additional, Lerario, Antonio M, additional, Latronico, Ana Claudia, additional, Fragoso, Maria Candida B V, additional, Mendonca, Berenice B, additional, Zerbini, Maria Claudia N, additional, Stratakis, Constantine A, additional, and Almeida, Madson Q, additional

Published
2021
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