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Article: Loss of Long Distance Co-Expression in Lung Cancer.

Andonegui-Elguera, Sergio Daniel / Zamora-Fuentes, José María / Espinal-Enríquez, Jesús / Hernández-Lemus, Enrique

2021 Volume 12, Page(s) 625741

Abstract: Lung cancer is one of the deadliest, most aggressive cancers. Abrupt changes in gene expression represent an important challenge to understand and fight the disease. Gene co-expression networks (GCNs) have been widely used to study the genomic regulatory ...

Abstract	Lung cancer is one of the deadliest, most aggressive cancers. Abrupt changes in gene expression represent an important challenge to understand and fight the disease. Gene co-expression networks (GCNs) have been widely used to study the genomic regulatory landscape of human cancer. Here, based on 1,143 RNA-Seq experiments from the TCGA collaboration, we constructed GCN for the most common types of lung tumors: adenocarcinoma (TAD) and squamous cells (TSCs) as well as their respective control networks (NAD and NSC). We compared the number of intra-chromosome (
Language	English
Publishing date	2021-03-10
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2021.625741
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Article ; Online: Genomics, Transcriptomics, and Epigenetics of Sporadic Pituitary Tumors.

Marrero-Rodríguez, Daniel / Vela-Patiño, Sandra / Martinez-Mendoza, Florencia / Valenzuela-Perez, Alejandra / Peña-Martínez, Eduardo / Cano-Zaragoza, Amayrani / Kerbel, Jacobo / Andonegui-Elguera, Sergio / Glick-Betech, Shimon S / Hermoso-Mier, Karla X / Mercado-Medrez, Sophia / Moscona-Nissan, Alberto / Taniguchi-Ponciano, Keiko / Mercado, Moises

Archives of medical research

2023 Volume 54, Issue 8, Page(s) 102915

Abstract: Pituitary tumors (PT) are highly heterogeneous neoplasms, comprising functioning and nonfunctioning lesions. Functioning PT include prolactinomas, causing amenorrhea-galactorrhea in women and sexual dysfunction in men; GH-secreting adenomas causing ... ...

Abstract	Pituitary tumors (PT) are highly heterogeneous neoplasms, comprising functioning and nonfunctioning lesions. Functioning PT include prolactinomas, causing amenorrhea-galactorrhea in women and sexual dysfunction in men; GH-secreting adenomas causing acromegaly-gigantism; ACTH-secreting corticotrophinomas causing Cushing disease (CD); and the rare TSH-secreting thyrotrophinomas that result in central hyperthyroidism. Nonfunctioning PT do not result in a hormonal hypersecretion syndrome and most of them are of gonadotrope differentiation; other non-functioning PT include null cell adenomas and silent ACTH-, GH- and PRL-adenomas. Less than 5% of PT occur in a familial or syndromic context whereby germline mutations of specific genes account for their molecular pathogenesis. In contrast, the more common sporadic PT do not result from a single molecular abnormality but rather emerge from several oncogenic events that culminate in an increased proliferation of pituitary cells, and in the case of functioning tumors, in a non-regulated hormonal hypersecretion. In recent years, important advances in the understanding of the molecular pathogenesis of PT have been made, including the genomic, transcriptomic, epigenetic, and proteomic characterization of these neoplasms. In this review, we summarize the available molecular information pertaining the oncogenesis of PT.
MeSH term(s)	Male ; Pregnancy ; Humans ; Female ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/pathology ; Proteomics ; Adenoma/genetics ; Adenoma/pathology ; Genomics ; Adrenocorticotropic Hormone/genetics ; Adrenocorticotropic Hormone/metabolism ; Gene Expression Profiling ; Epigenesis, Genetic
Chemical Substances	Adrenocorticotropic Hormone (9002-60-2)
Language	English
Publishing date	2023-11-18
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1156844-6
ISSN	1873-5487 ; 0188-4409 ; 0188-0128
ISSN (online)	1873-5487
ISSN	0188-4409 ; 0188-0128
DOI	10.1016/j.arcmed.2023.102915
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Article ; Online: The hallmarks of cancer… in pituitary tumors?

Marrero-Rodríguez, Daniel / Taniguchi-Ponciano, Keiko / Kerbel, Jacobo / Cano-Zaragoza, Amayrani / Remba-Shapiro, Ilan / Silva-Román, Gloria / Vela-Patiño, Sandra / Andonegui-Elguera, Sergio / Valenzuela-Perez, Alejandra / Mercado, Moisés

Reviews in endocrine & metabolic disorders

2022 Volume 24, Issue 2, Page(s) 177–190

Abstract: Over 20 years ago, Hanahan and Weinberg published a seminal review that addressed the biological processes that underly malignant transformation. This classical review, along with two revisions published in 2011 and 2022, has remain a classic of the ... ...

Abstract	Over 20 years ago, Hanahan and Weinberg published a seminal review that addressed the biological processes that underly malignant transformation. This classical review, along with two revisions published in 2011 and 2022, has remain a classic of the oncology literature. Since many of the addressed biological processes may apply to non-malignant tumorigenesis, we evaluated to what extent these hallmarks pertain to the development of pituitary adenomas.Some of the biological processes analyzed in this review include genome instability generated by somatic USP8 and GNAS mutations in Cushing's diseases and acromegaly respectively; non-mutational epigenetic reprograming through changes in methylation; induction of angiogenesis through alterations of VEGF gene expression; promotion of proliferative signals mediated by EGFR; evasion of growth suppression by disrupting cyclin dependent kinase inhibitors; avoidance of immune destruction; and the promotion of inflammation mediated by alteration of gene expression of immune check points. We also elaborate further on the existence of oncogene induced senescence in pituitary tumors. We conclude that a better understanding of these processes can help us dilucidated why pituitary tumors are so resistant to malignant transformation and can potentially contribute to the development of novel anticancer treatments.
MeSH term(s)	Humans ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/pathology ; Adenoma/pathology ; Mutation ; Acromegaly
Language	English
Publishing date	2022-12-31
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	2185718-0
ISSN	1573-2606 ; 1389-9155
ISSN (online)	1573-2606
ISSN	1389-9155
DOI	10.1007/s11154-022-09777-y
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Article ; Online: The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas.

Andonegui-Elguera, Sergio / Silva-Román, Gloria / Peña-Martínez, Eduardo / Taniguchi-Ponciano, Keiko / Vela-Patiño, Sandra / Remba-Shapiro, Ilan / Gómez-Apo, Erick / Espinosa-de-Los-Monteros, Ana-Laura / Portocarrero-Ortiz, Lesly A / Guinto, Gerardo / Moreno-Jimenez, Sergio / Chavez-Macias, Laura / Saucedo, Renata / Basurto-Acevedo, Lourdes / Lopez-Felix, Blas / Gonzalez-Torres, Carolina / Gaytan-Cervantes, Javier / Ayala-Sumuano, Jorge T / Burak-Leipuner, Andres /

Marrero-Rodríguez, Daniel / Mercado, Moisés

International journal of molecular sciences

2022 Volume 23, Issue 9

Abstract: Corticotroph cells give rise to aggressive and rare pituitary neoplasms comprising ACTH-producing adenomas resulting in Cushing disease (CD), clinically silent ACTH adenomas (SCA), Crooke cell adenomas (CCA) and ACTH-producing carcinomas (CA). The ... ...

Abstract	Corticotroph cells give rise to aggressive and rare pituitary neoplasms comprising ACTH-producing adenomas resulting in Cushing disease (CD), clinically silent ACTH adenomas (SCA), Crooke cell adenomas (CCA) and ACTH-producing carcinomas (CA). The molecular pathogenesis of these tumors is still poorly understood. To better understand the genomic landscape of all the lesions of the corticotroph lineage, we sequenced the whole exome of three SCA, one CCA, four ACTH-secreting PA causing CD, one corticotrophinoma occurring in a CD patient who developed Nelson syndrome after adrenalectomy and one patient with an ACTH-producing CA. The ACTH-producing CA was the lesion with the highest number of single nucleotide variants (SNV) in genes such as
MeSH term(s)	ACTH-Secreting Pituitary Adenoma/genetics ; Adenoma/genetics ; Adenoma/pathology ; Adrenocorticotropic Hormone ; Aurora Kinase A ; Carcinoma/genetics ; Corticotrophs/pathology ; ErbB Receptors ; Genomics ; Humans ; Melanocortins ; Multienzyme Complexes ; Nelson Syndrome ; Nucleotides ; Pituitary Neoplasms/genetics
Chemical Substances	Melanocortins ; Multienzyme Complexes ; Nucleotides ; Adrenocorticotropic Hormone (9002-60-2) ; ErbB Receptors (EC 2.7.10.1) ; Aurora Kinase A (EC 2.7.11.1)
Language	English
Publishing date	2022-04-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms23094861
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Article ; Online: The kinome, cyclins and cyclin-dependent kinases of pituitary adenomas, a look into the gene expression profile among tumors from different lineages.

Taniguchi-Ponciano, Keiko / Portocarrero-Ortiz, Lesly A / Guinto, Gerardo / Moreno-Jimenez, Sergio / Gomez-Apo, Erick / Chavez-Macias, Laura / Peña-Martínez, Eduardo / Silva-Román, Gloria / Vela-Patiño, Sandra / Ordoñez-García, Jesús / Andonegui-Elguera, Sergio / Ferreira-Hermosillo, Aldo / Ramirez-Renteria, Claudia / Espinosa-Cardenas, Etual / Sosa, Ernesto / Espinosa-de-Los-Monteros, Ana Laura / Salame-Khouri, Latife / Perez, Carolina / Lopez-Felix, Blas /

Vargas-Ortega, Guadalupe / Gonzalez-Virla, Baldomero / Lisbona-Buzali, Marcos / Marrero-Rodríguez, Daniel / Mercado, Moisés

BMC medical genomics

2022 Volume 15, Issue 1, Page(s) 52

Abstract: Background: Pituitary adenomas (PA) are the second most common intracranial tumors and are classified according to hormone they produce, and the transcription factors they express. The majority of PA occur sporadically, and their molecular pathogenesis ... ...

Abstract	Background: Pituitary adenomas (PA) are the second most common intracranial tumors and are classified according to hormone they produce, and the transcription factors they express. The majority of PA occur sporadically, and their molecular pathogenesis is incompletely understood. Methods: Here we performed transcriptome and proteome analysis of tumors derived from POU1F1 (GH-, TSH-, and PRL-tumors, N = 16), NR5A1 (gonadotropes and null cells adenomas, n = 17) and TBX19 (ACTH-tumors, n = 6) lineages as well as from silent ACTH-tumors (n = 3) to determine expression of kinases, cyclins, CDKs and CDK inhibitors. Results: The expression profiles of genes encoding kinases were distinctive for each of the three PA lineage: NR5A1-derived tumors showed upregulation of ETNK2 and PIK3C2G and alterations in MAPK, ErbB and RAS signaling, POU1F1-derived adenomas showed upregulation of PIP5K1B and NEK10 and alterations in phosphatidylinositol, insulin and phospholipase D signaling pathways and TBX19-derived adenomas showed upregulation of MERTK and STK17B and alterations in VEGFA-VEGFR, EGF-EGFR and Insulin signaling pathways. In contrast, the expression of the different genes encoding cyclins, CDK and CDK inhibitors among NR5A1-, POU1F1- and TBX19-adenomas showed only subtle differences. CDK9 and CDK18 were upregulated in NR5A1-adenomas, whereas CDK4 and CDK7 were upregulated in POUF1-adenomas. Conclusions: The kinome of PA clusters these lesions into three distinct groups according to the transcription factor that drives their terminal differentiation. And these complexes could be harnessed as molecular therapy targets.
MeSH term(s)	Adenoma/metabolism ; Adrenocorticotropic Hormone/genetics ; Apoptosis Regulatory Proteins/genetics ; Cyclin-Dependent Kinases/genetics ; Cyclin-Dependent Kinases/metabolism ; Cyclins/genetics ; Cyclins/metabolism ; Humans ; Insulin ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/metabolism ; Pituitary Neoplasms/pathology ; Protein Serine-Threonine Kinases ; Transcription Factors/genetics ; Transcriptome
Chemical Substances	Apoptosis Regulatory Proteins ; Cyclins ; Insulin ; Transcription Factors ; Adrenocorticotropic Hormone (9002-60-2) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; STK17B protein, human (EC 2.7.11.1) ; Cyclin-Dependent Kinases (EC 2.7.11.22)
Language	English
Publishing date	2022-03-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-022-01206-y
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Article ; Online: Transcriptome and methylome analysis reveals three cellular origins of pituitary tumors.

Taniguchi-Ponciano, Keiko / Andonegui-Elguera, Sergio / Peña-Martínez, Eduardo / Silva-Román, Gloria / Vela-Patiño, Sandra / Gomez-Apo, Erick / Chavez-Macias, Laura / Vargas-Ortega, Guadalupe / Espinosa-de-Los-Monteros, Laura / Gonzalez-Virla, Baldomero / Perez, Carolina / Ferreira-Hermosillo, Aldo / Espinosa-Cardenas, Etual / Ramirez-Renteria, Claudia / Sosa, Ernesto / Lopez-Felix, Blas / Guinto, Gerardo / Marrero-Rodríguez, Daniel / Mercado, Moises

Scientific reports

2020 Volume 10, Issue 1, Page(s) 19373

Abstract: Pituitary adenomas (PA) are the second most common intracranial tumors. These neoplasms are classified according to the hormone they produce. The majority of PA occur sporadically, and their molecular pathogenesis is incompletely understood. The present ... ...

Abstract	Pituitary adenomas (PA) are the second most common intracranial tumors. These neoplasms are classified according to the hormone they produce. The majority of PA occur sporadically, and their molecular pathogenesis is incompletely understood. The present transcriptomic and methylomic analysis of PA revealed that they segregate into three molecular clusters according to the transcription factor driving their terminal differentiation. First cluster, driven by NR5A1, consists of clinically non-functioning PA (CNFPA), comprising gonadotrophinomas and null cell; the second cluster consists of clinically evident ACTH adenomas and silent corticotroph adenomas, driven by TBX19; and the third, POU1F1-driven TSH-, PRL- and GH-adenomas, segregated together. Genes such as CACNA2D4, EPHA4 and SLIT1, were upregulated in each of these three clusters, respectively. Pathway enrichment analysis revealed specific alterations of these clusters: calcium signaling pathway in CNFPA; renin-angiotensin system for ACTH-adenomas and fatty acid metabolism for the TSH-, PRL-, GH-cluster. Non-tumoral pituitary scRNAseq data confirmed that this clustering also occurs in normal cytodifferentiation. Deconvolution analysis identify potential mononuclear cell infiltrate in PA consists of dendritic, NK and mast cells. Our results are consistent with a divergent origin of PA, which segregate into three clusters that depend on the specific transcription factors driving late pituitary cytodifferentiation.
MeSH term(s)	Dendritic Cells/metabolism ; Dendritic Cells/pathology ; Epigenome ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Killer Cells, Natural/metabolism ; Killer Cells, Natural/pathology ; Male ; Mast Cells/metabolism ; Mast Cells/pathology ; Neoplasm Proteins/biosynthesis ; Neoplasm Proteins/genetics ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/metabolism ; Pituitary Neoplasms/pathology ; Transcriptome
Chemical Substances	Neoplasm Proteins
Language	English
Publishing date	2020-11-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-020-76555-8
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Article ; Online: Molecular Alterations Prompted by SARS-CoV-2 Infection: Induction of Hyaluronan, Glycosaminoglycan and Mucopolysaccharide Metabolism.

Andonegui-Elguera, Sergio / Taniguchi-Ponciano, Keiko / Gonzalez-Bonilla, Cesar Raul / Torres, Javier / Mayani, Hector / Herrera, Luis Alonso / Peña-Martínez, Eduardo / Silva-Román, Gloria / Vela-Patiño, Sandra / Ferreira-Hermosillo, Aldo / Ramirez-Renteria, Claudia / Carvente-Garcia, Roberto / Mata-Lozano, Carlos / Marrero-Rodríguez, Daniel / Mercado, Moises

Archives of medical research

2020 Volume 51, Issue 7, Page(s) 645–653

Abstract: Background: The SARS-CoV-2 is the etiological agent causing COVID-19 which has infected more than 2 million people with more than 200000 deaths since its emergence in December 2019. In the majority of cases patients are either asymptomatic or show mild ... ...

Abstract	Background: The SARS-CoV-2 is the etiological agent causing COVID-19 which has infected more than 2 million people with more than 200000 deaths since its emergence in December 2019. In the majority of cases patients are either asymptomatic or show mild to moderate symptoms and signs of a common cold. A subset of patients, however, develop a severe atypical pneumonia, with the characteristic ground-glass appearance on chest x-ray and computerized tomography, which evolves into an acute respiratory distress syndrome, that requires mechanical ventilation and eventually results in multiple organ failure and death. The Molecular pathogenesis of COVID-19 is still unknown. Aim of the study: In the present work we performed a stringent metanalysis from the publicly available RNAseq data from bronchoalveolar cells and peripheral blood mononuclear cells to elucidate molecular alterations and cellular deconvolution to identify immune cell profiles. Results: Alterations in genes involved in hyaluronan, glycosaminoglycan and mucopolysaccharides metabolism were over-represented in bronchoalveolar cells infected by SARS-CoV-2, as well as potential lung infiltration with neutrophils, T CD4+ cell and macrophages. The blood mononuclear cells presented a proliferative state. Dramatic reduction of NK and T lymphocytes, whereas an exacerbated increase in monocytes. Conclusions: In summary our results revealed molecular pathogenesis of the SARS-CoV-2 infection to bronchoalveolar cells inducing the hyaluronan and glycosaminoglycan metabolism that could shape partially the components of the ground-glass opacities observed in CT. And the potential immune response profile in COVID-19.
MeSH term(s)	Bronchoalveolar Lavage Fluid/cytology ; COVID-19/diagnostic imaging ; COVID-19/genetics ; COVID-19/metabolism ; COVID-19/pathology ; Glycosaminoglycans/genetics ; Glycosaminoglycans/metabolism ; Humans ; Hyaluronic Acid/genetics ; Hyaluronic Acid/metabolism ; Leukocytes, Mononuclear/cytology ; Lung/diagnostic imaging ; Lung/pathology ; SARS-CoV-2
Chemical Substances	Glycosaminoglycans ; Hyaluronic Acid (9004-61-9)
Keywords	covid19
Language	English
Publishing date	2020-06-18
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
ZDB-ID	1156844-6
ISSN	1873-5487 ; 0188-4409 ; 0188-0128
ISSN (online)	1873-5487
ISSN	0188-4409 ; 0188-0128
DOI	10.1016/j.arcmed.2020.06.011
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Article ; Online: Molecular alterations in non-functioning pituitary adenomas.

Taniguchi-Ponciano, Keiko / Gomez-Apo, Erick / Chavez-Macias, Laura / Vargas, Guadalupe / Espinosa-Cardenas, Etual / Ramirez-Renteria, Claudia / Ferreira-Hermosillo, Aldo / Sosa, Ernesto / Silva-Román, Gloria / Peña-Martínez, Eduardo / Andonegui-Elguera, Sergio / Vargas-Chavez, Sonia / Santiago-Andres, Yorgui / Peralta, Raul / Marrero-Rodríguez, Daniel / Mercado, Moises

Cancer biomarkers : section A of Disease markers

2020 Volume 28, Issue 2, Page(s) 193–199

Abstract: Background: Clinically non-functioning Pituitary Adenomas (NFPA) are among the most common neoplasms of the sellar region. They usually present with compressive symptoms such as headache and visual field defects and not infrequently, are found ... ...

Abstract	Background: Clinically non-functioning Pituitary Adenomas (NFPA) are among the most common neoplasms of the sellar region. They usually present with compressive symptoms such as headache and visual field defects and not infrequently, are found incidentally. NFPA are classified as gonadotropinomas, null cell adenomas, according to their immunohistochemical phenotype. The molecular alterations responsible for the development of these lesions are incompletely understood, and there is scarce information regarding the molecular alterations and markers. Objective: We carried out an in-silico analysis aimed at identifying the molecular alterations in NFPA and to discover new molecular markers. Methods: Twenty-three microarray libraries were analyzed. Fourteen correspond to NFPA and 9 to control tissue gland. They were analyzed using Partek Genomic Suite to identify differentially expressed genes and WebGestalt and Metascape to understand the meaning behind the gene lists. Results: Pituitary adenomas showed a markedly different transcriptome compared to the non-tumoral gland, regardless of their putative immunophenotype. Genes related to calcium metabolism such as CACNA2D4, immune-related CXCR4, and stem cell-related KLF8 and PITX2 were altered. Conclusions: Differentially expressed calcium metabolism and immune-related genes in NFPA represent attractive molecular markers and potential therapeutic targets.
MeSH term(s)	Adenoma/genetics ; Adenoma/pathology ; Biomarkers, Tumor/genetics ; Calcium Channels, L-Type/genetics ; Computational Biology ; Datasets as Topic ; Gene Expression Regulation, Neoplastic ; Homeodomain Proteins/genetics ; Humans ; Kruppel-Like Transcription Factors/genetics ; Oligonucleotide Array Sequence Analysis ; Pituitary Gland/pathology ; Pituitary Neoplasms/genetics ; Pituitary Neoplasms/pathology ; Receptors, CXCR4/genetics ; Transcription Factors/genetics ; Homeobox Protein PITX2
Chemical Substances	Biomarkers, Tumor ; CACNA2D4 protein, human ; CXCR4 protein, human ; Calcium Channels, L-Type ; Homeodomain Proteins ; KLF8 protein, human ; Kruppel-Like Transcription Factors ; Receptors, CXCR4 ; Transcription Factors
Language	English
Publishing date	2020-03-19
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2203517-5
ISSN	1875-8592 ; 1574-0153 ; 1875-8592
ISSN (online)	1875-8592 ; 1574-0153
ISSN	1875-8592
DOI	10.3233/CBM-191121
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Article ; Online: The Genomic Landscape of Corticotroph Tumors

Sergio Andonegui-Elguera / Gloria Silva-Román / Eduardo Peña-Martínez / Keiko Taniguchi-Ponciano / Sandra Vela-Patiño / Ilan Remba-Shapiro / Erick Gómez-Apo / Ana-Laura Espinosa-de-los-Monteros / Lesly A. Portocarrero-Ortiz / Gerardo Guinto / Sergio Moreno-Jimenez / Laura Chavez-Macias / Renata Saucedo / Lourdes Basurto-Acevedo / Blas Lopez-Felix / Carolina Gonzalez-Torres / Javier Gaytan-Cervantes / Jorge T. Ayala-Sumuano / Andres Burak-Leipuner /

Daniel Marrero-Rodríguez / Moisés Mercado

International Journal of Molecular Sciences, Vol 23, Iss 4861, p

From Silent Adenomas to ACTH-Secreting Carcinomas

2022 Volume 4861

Abstract	Corticotroph cells give rise to aggressive and rare pituitary neoplasms comprising ACTH-producing adenomas resulting in Cushing disease (CD), clinically silent ACTH adenomas (SCA), Crooke cell adenomas (CCA) and ACTH-producing carcinomas (CA). The molecular pathogenesis of these tumors is still poorly understood. To better understand the genomic landscape of all the lesions of the corticotroph lineage, we sequenced the whole exome of three SCA, one CCA, four ACTH-secreting PA causing CD, one corticotrophinoma occurring in a CD patient who developed Nelson syndrome after adrenalectomy and one patient with an ACTH-producing CA. The ACTH-producing CA was the lesion with the highest number of single nucleotide variants (SNV) in genes such as USP8 , TP53, AURKA, EGFR, HSD3B1 and CDKN1A . The USP8 variant was found only in the ACTH-CA and in the corticotrophinoma occurring in a patient with Nelson syndrome. In CCA, SNV in TP53, EGFR, HSD3B1 and CDKN1A SNV were present. HSD3B1 and CDKN1A SNVs were present in all three SCA, whereas in two of these tumors SNV in TP53, AURKA and EGFR were found. None of the analyzed tumors showed SNV in USP48, BRAF, BRG1 or CABLES1 . The amplification of 17q12 was found in all tumors, except for the ACTH-producing carcinoma. The four clinically functioning ACTH adenomas and the ACTH-CA shared the amplification of 10q11.22 and showed more copy-number variation (CNV) gains and single-nucleotide variations than the nonfunctioning tumors.
Keywords	corticotroph ; Cushing disease ; ACTH-secreting carcinoma ; single nucleotide variation ; copy number variation ; exome ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	630
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: Molecular Alterations Prompted by SARS-CoV-2 Infection

Archives of Medical Research

Induction of Hyaluronan, Glycosaminoglycan and Mucopolysaccharide Metabolism

2020 Volume 51, Issue 7, Page(s) 645–653

Keywords	General Medicine ; covid19
Language	English
Publisher	Elsevier BV
Publishing country	us
Document type	Article ; Online
ZDB-ID	1156844-6
ISSN	0188-4409 ; 0188-0128
ISSN	0188-4409 ; 0188-0128
DOI	10.1016/j.arcmed.2020.06.011
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