18 results on '"Chiauzzi, Violeta A."'
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2. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
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Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, WH Irwin, Patin, Etienne, Meyts, Ewa Rajpert-De, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, and Bashamboo, Anu
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Rare Diseases ,Contraception/Reproduction ,Infertility ,Clinical Research ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Reproductive health and childbirth ,46 ,XX Disorders of Sex Development ,Adolescent ,Child ,Disorder of Sex Development ,46 ,XY ,Female ,Humans ,Male ,Mutation ,Missense ,Oligospermia ,Primary Ovarian Insufficiency ,SOXE Transcription Factors ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n = 274) and two independent cohorts of women with primary ovarian insufficiency (POI; n = 153 and n = 104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P
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- 2018
3. Halting ErbB-2 isoforms retrograde transport to the nucleus as a new theragnostic approach for triple-negative breast cancer
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Madera, Santiago, Izzo, Franco, Chervo, María F., Dupont, Agustina, Chiauzzi, Violeta A., Bruni, Sofia, Petrillo, Ezequiel, Merin, Sharon S., De Martino, Mara, Montero, Diego, Levit, Claudio, Lebersztein, Gabriel, Anfuso, Fabiana, Roldán Deamicis, Agustina, Mercogliano, María F., Proietti, Cecilia J., Schillaci, Roxana, Elizalde, Patricia V., and Cordo Russo, Rosalía I.
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- 2022
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4. Nuclear PDCD4 Expression Defines a Subset of Luminal B-Like Breast Cancers with Good Prognosis
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Madera, Santiago, Chervo, María F., Chiauzzi, Violeta A., Pereyra, Matías G., Venturutti, Leandro, Izzo, Franco, Roldán Deamicis, Agustina, Guzman, Pablo, Dupont, Agustina, Roa, Juan Carlos, Cenciarini, Mauro E., Barchuk, Sabrina, Figurelli, Silvina, Lopez Della Vecchia, Daniel, Levit, Claudio, Lebersztein, Gabriel, Anfuso, Fabiana, Castiglioni, Teresa, Cortese, Eduardo, Ares, Sandra, Deza, Ernesto Gil, Gercovich, Felipe G., Proietti, Cecilia J., Schillaci, Roxana, Cordo Russo, Rosalía I., and Elizalde, Patricia V.
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- 2020
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5. ODP551 Halting ErbB-2 Isoforms Retrograde Transport to the Nucleus as a New Theragnostic Approach for Triple Negative Breast Cancer
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Elizalde, Patricia Virginia, primary, Izzo, Franco, additional, Chervo, Maria Florencia, additional, Merin, Sharon Salma, additional, Dupont, Agustina, additional, Chiauzzi, Violeta, additional, Bruni, Sofia, additional, Petrillo, Ezequiel, additional, Montero, Diego, additional, Mercogliano, Maria Florencia, additional, Proietti, Cecilia Jazmin, additional, Schillaci, Roxana, additional, Madera, Santiago, additional, and Russo, Rosalia Ines Cordo, additional
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- 2022
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6. ODP571 Blockade of ErbB-2 Nuclear Function Induces the Interferon Signaling Pathway in Breast Cancer Models Resistant to Trastuzumab
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Elizalde, Patricia V, primary, Cordo Russo, Rosalia, additional, Madera, Santiago, additional, Merin, Sharon S, additional, Chervo, María F, additional, Ebrahimie, Esmaeil, additional, Selth, Luke, additional, Chiauzzi, Violeta A, additional, Dupont, Agustina, additional, Barchuk, Sabrina, additional, Figurelli, Silvina, additional, Lopez Della Vecchia, Daniel, additional, Guzmán, Pablo, additional, Roa, Juan C, additional, Levit, Claudio, additional, Lebersztein, Gabriel, additional, Anfuso, Fabiana, additional, Proietti, Cecilia J, additional, Schillaci, Roxana, additional, Hickey, Theresa E, additional, Tilley, Wayne D, additional, and Elizalde, Patricia V, additional
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- 2022
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7. Abstract 344: Blockade of retrograde transport in triple negative breast cancer excludes ErbB-2 isoforms from the nucleus and abrogates tumor growth
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Madera, Santiago, primary, Izzo, Franco, additional, Chervo, Maria F., additional, Dupont, Agustina, additional, Chiauzzi, Violeta A., additional, Bruni, Sofia, additional, Petrillo, Ezequiel, additional, Montero, Diego, additional, Merin, Sharon, additional, Mercogliano, Maria F., additional, Proietti, Cecilia J., additional, Schillaci, Roxana, additional, Russo, Rosalia I. Cordo, additional, and Elizalde, Patricia V., additional
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- 2022
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8. Nuclear PDCD4 Expression Predicts Good Clinical Outcome in Luminal A-Like and Luminal B-Like Breast Cancer Subtypes
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Madera, Santiago, Chiauzzi, Violeta Alicia, Chervo, María Florencia, Pereyra, Matías G., Venturutti, Leandro, Roldán Deamicis, Agustina, Dupont, Agustina, Guzmán, Pablo, Roa, Juan Carlos, Cenciarini, Mauro Ezequiel, Barchuk, Sabrina, Figurelli, Silvina, Lopez Della Vecchia, Daniel Edgardo, Ares, Sandra, Proietti Anastasi, Cecilia Jazmín, Deza, Ernesto Gil, Gercovich, Felipe G, Schillaci, Roxana, Elizalde, Patricia Virginia, and Cordo Russo, Rosalia Ines
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BIOMARKER ,Medicina Básica ,CIENCIAS MÉDICAS Y DE LA SALUD ,PDCD4 ,purl.org/becyt/ford/3 [https] ,purl.org/becyt/ford/3.1 [https] ,Bioquímica y Biología Molecular ,CANCER - Abstract
Hormone receptor-positive (HR+, estrogen and/or progesterone receptor-positive) and HER2-negative breast cancer (BC) subtype is a biologically heterogeneous entity that comprises 70% of BCs. This subtype includes both luminal (Lum) A- and B-like subtypes, which have differences in prognosis and sensitivity to endocrine therapies. The development of biomarkers guiding treatment decisions in these settings is required. Tumor suppressor PDCD4 (programmed cell death 4), which can be found both in the nucleus (NPDCD4) or the cytoplasm (CPDCD4), inhibits tumor growth and metastasis, and its loss is associated with poor prognosis in solid tumors. To explore the clinical relevance of PDCD4 in BC, we analyzed its expression by immunohistochemistry in a cohort of 619 patients with primary invasive BC. We found that 34.7% of patients showed NPDCD4 and 21.3% showed CPDCD4. NPDCD4 positivity, but not CPDCD4, was associated with lower clinical stage (P = 0.0003), with presence of more differentiated tumors (P = 6.4x10-6), and with estrogen and progesterone receptor (PR) expression (P = 9.2x10-9 and P = 2.8x10-9, respectively). Kaplan-Meier analysis revealed that NPDCD4 expression was associated with a longer overall survival (OS) and disease-free survival (DFS) in LumA-like (P = 0.008 and P = 0.028, respectively) and LumB-like (P = 0.004 and P = 0.012, respectively) subtypes. Interestingly, patients with LumB-like tumors displaying NPDCD4 presented estimated OS and DFS rates similar to the ones observed in patients with LumA-like tumors also expressing NPDCD4, indicating that its presence improves the clinical outcome of LumB-like patients. Multivariate Cox regression analysis identified NPDCD4 as an independent predictor of good clinical outcome in both LumA-like (HR: 0.45, 95% CI 0.22-0.96, P = 0.038) and LumB-like (HR: 0.28, 95% CI 0.10-0.80, P = 0.018) subtypes. We validated our results by in silico analysis using expression data from the METABRIC cohort. Bioinformatics analysis of BC cells from the Cancer Cell Line Encyclopedia revealed a positive correlation between PDCD4 and PR expression (P = 0.015). Since LumB-like tumors present a higher risk of resistance to endocrine therapy and both PR and PDCD4 levels in this subtype are lower than in the LumA-like one, we postulated that the presence of PR may modulate PDCD4 expression. Silencing of PR expression in HR+ cells decreased PDCD4 protein levels while reconstitution of PR in a PR-null cell line increased them, confirming PR requirement for PDCD4 modulation. In line with PDCD4 physiological function, its knockdown increased cell migration capability of HR+ BC cells, whereas its restoration led to a decrease in cell migration of HR-negative BC models. Our findings identified NPDCD4 positivity as a novel biomarker of clinical outcome in LumA- and B-like subtypes and revealed PDCD4 reconstitution as a novel therapeutic strategy in BC. Fil: Madera, Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Chervo, María Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Pereyra, Matías G.. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Venturutti, Leandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Roldán Deamicis, Agustina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Dupont, Agustina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Guzmán, Pablo. Universidad de La Frontera. Núcleo Científico y Tecnológico en Recursos Naturales; Chile Fil: Roa, Juan Carlos. Universidad de La Frontera. Núcleo Científico y Tecnológico en Recursos Naturales; Chile Fil: Cenciarini, Mauro Ezequiel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Barchuk, Sabrina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; Argentina Fil: Figurelli, Silvina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; Argentina Fil: Lopez Della Vecchia, Daniel Edgardo. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Juan A. Fernández"; Argentina Fil: Ares, Sandra. Instituto Oncológico “Henry Moore”; Argentina Fil: Proietti Anastasi, Cecilia Jazmín. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Deza, Ernesto Gil. Instituto Oncológico “Henry Moore”; Argentina Fil: Gercovich, Felipe G. Instituto Oncológico “Henry Moore”; Argentina Fil: Schillaci, Roxana. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Elizalde, Patricia Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Cordo Russo, Rosalia Ines. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina
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- 2020
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9. Halting Retrograde Transport Excludes ErbB-2 From the Nucleus Abrogating Tumor Growth in Triple Negative Breast Cancer
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Madera, Santiago, primary, Izzo, Franco, additional, Chervo, María Florencia, additional, Dupont, Agustina, additional, Chiauzzi, Violeta Alicia, additional, Montero, Diego, additional, Deamicis, Agustina Roldán, additional, Proietti, Cecilia Jazmín, additional, Schillaci, Roxana, additional, Elizalde, Patricia Virginia, additional, and Russo, Rosalia Ines Cordo, additional
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- 2021
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10. Nuclear ErbB-2-Induced Transcriptome Drives Triple Negative Breast Cancer Growth
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Chervo, Maria F, primary, Parra, Micaela, additional, Bellora, Nicolas, additional, Petrillo, Ezequiel, additional, Madera, Santiago, additional, Deamicis, Agustina Roldan, additional, Mitsuya, Kohzoh, additional, Chiauzzi, Violeta A, additional, Proietti, Cecilia J, additional, Schillaci, Roxana, additional, Huang, Tim H-M, additional, Russo, Rosalia I Cordo, additional, and Elizalde, Patricia V, additional
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- 2021
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11. SUN-122 Nuclear PDCD4 Expression Predicts Good Clinical Outcome in Luminal A-Like and Luminal B-Like Breast Cancer Subtypes
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Madera, Santiago, primary, Chiauzzi, Violeta A, primary, Chervo, María F, primary, Pereyra, Matías G, primary, Venturutti, Leandro, primary, Deamicis, Agustina Roldán, primary, Dupont, Agustina, primary, Guzmán, Pablo, primary, Roa, Juan C, primary, Cenciarini, Mauro E, primary, Barchuk, Sabrina, primary, Figurelli, Silvina, primary, Vecchia, Daniel Lopez Della, primary, Ares, Sandra, primary, Proietti, Cecilia J, primary, Deza, Ernesto Gil, primary, Gercovich, Felipe G, primary, Schillaci, Roxana, primary, Elizalde, Patricia V, primary, and Cordo Russo, Rosalia I, primary
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- 2020
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12. Controversial role of inhibin α-subunit gene in the aetiology of premature ovarian failure
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Sundblad, Victoria, Chiauzzi, Violeta A., Andreone, Luz, Campo, Stella, Charreau, Eduardo H., and Dain, Liliana
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- 2006
13. Distribution of FMR1 and FMR2 repeats in 2 Argentinean patients with primary ovarian 3 insufficiency
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Espeche, Lucía Daniela, Chiauzzi, Violeta Alicia, Ferder, Ianina Claudia, Arrar, Mehrnoosh, Solari, Andrea Paula, Bruque, Carlos David, Delea, Marisol, Belli, Susana, Fernández, Cecilia Soledad, Buzzalino, Noemí Delia, Charreau, Eduardo Hernan, and Dain, Liliana Beatriz
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CIENCIAS MÉDICAS Y DE LA SALUD ,FMR2 ,Otras Ciencias Biológicas ,Patología ,purl.org/becyt/ford/3.1 [https] ,PRIMARY OVARIAN INSUFFICIENCY ,Ciencias Biológicas ,purl.org/becyt/ford/1 [https] ,Medicina Básica ,purl.org/becyt/ford/3 [https] ,purl.org/becyt/ford/1.6 [https] ,FMR1 ,CIENCIAS NATURALES Y EXACTAS ,FXPOI - Abstract
The premutation state of FMR1 has been associated with Fragile X-related Premature Ovarian 29 Failure (POI) and is the most common known genetic cause for 46,XX patients. Nevertheless, very 30 few studies analyzed its frequency in Latin American populations. Additionally, a relationship 31 between alleles carrying a cryptic microdeletion in the 5?UTR of FMR2 and the onset of POI has only 32 been studied in one population. 33Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in 34 exon 1 of FMR2 in a cohort of Argentinean women with POI. We studied 133 patients and 84 35 controls. Fluorescent PCR was performed and the FMR2 exon 1 was further sequenced in samples 36 presenting less than 11 repeats. We found the frequency of FMR1 permutations to be 6.7% and 37 2.9% for familial and sporadic patients, respectively. Among controls , 1/84 women presented a 38 premutation. In addition, although we did not find microdeletions in FMR2 , we observed a change 39 (T>C) adjacent to the repeats in two sisters with POI. Given the repetitive nature of the sequence 40 involved, we could not ascertain whether this represents a SNP or a deletion. Therefore, a 41 relationship between FMR2 and POI could not be established for our population. Fil: Espeche, Lucía Daniela. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Ferder, Ianina Claudia. Massachusetts General Hospital; . Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Arrar, Mehrnoosh. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Ciudad Universitaria. Instituto de Química, Física de los Materiales, Medioambiente y Energía. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Química, Física de los Materiales, Medioambiente y Energía; Argentina Fil: Solari, Andrea Paula. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Bruque, Carlos David. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Delea, Marisol. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Belli, Susana. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología ; Argentina Fil: Fernández, Cecilia Soledad. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Buzzalino, Noemí Delia. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina Fil: Charreau, Eduardo Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina Fil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud ; Argentina
- Published
- 2017
14. Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
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Espeche, Lucía, primary, Chiauzzi, Violeta, additional, Ferder, Ianina, additional, Arrar, Mehrnoosh, additional, Solari, Andrea, additional, Bruque, Carlos, additional, Delea, Marisol, additional, Belli, Susana, additional, Fernández, Cecilia, additional, Buzzalino, Noemí, additional, Charreau, Eduardo, additional, and Dain, Liliana, additional
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- 2017
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15. Falla ovárica precoz: Laboratorio
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Chiauzzi, Violeta Alicia
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Ciencias Biológicas ,purl.org/becyt/ford/1 [https] ,FISIOPATOLOGÍA ,ANTICUERPOS ,Métodos de Investigación en Bioquímica ,FOP ,FOP AUTOINMUNE ,ETIOLOGÍA ,purl.org/becyt/ford/1.6 [https] ,CIENCIAS NATURALES Y EXACTAS - Abstract
La falla ovárica prematura (FOP) es una patología que afecta al 1% de las mujeres en edad fértil y al 0,1% enmujeres menores de 30 añosy que se caracteriza por presentar amenorrea primaria o secundaria antes de los 40 años, hipoestrogenismo e hipergonadotrofismo, con distintos grados de atresia folicular. Cabe aclarar que algunos autores no incluyen las pacientes con amenorrea primaria, por considerar que no se podría hablar de una falla Ovárica cuando dicha función no estaba presente. Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina
- Published
- 2012
16. Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat
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Ferder, Ianina, primary, Parborell, Fernanda, additional, Sundblad, Victoria, additional, Chiauzzi, Violeta, additional, Gómez, Karina, additional, Charreau, Eduardo H, additional, Tesone, Marta, additional, and Dain, Liliana, additional
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- 2013
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17. Effects of Androgen Treatment of the Neonate on Rat Testis and Sex Accessory Organs
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Barañao, José Lino S., Chemes, Héctor E., Tesone, Marta, Chiauzzi, Violeta A., Scacchi, Pablo, Calvo, Juan C., Faigon, María R., Moguilevsky, Jaime A., Charreau, Eduardo H., and Calandra, Ricardo S.
- Abstract
Testosterone metabolism, androgen receptors, and the androgen binding protein (ABP) were studied in male albino rats injected with 1 mg of testosterone propionate (TP) on Day 2 of life. The epididymal content of ABP was diminished in immature but not in adult animals treated neonatally with androgen. No changes were detected in the testicular levels of this protein in 27-day-old rats. In adult animals atrophic lesions were seen in 3% of the seminiferous tubules. Androgen treatment of neonates led to a substantial decrease in the 5α-reductase activity in homogenates of prostate gland and epididymis from adult rats with a concomitant decline in the 3α-β-hydroxysteroid dehydrogenase activities in both tissues. These animals did not show any change in the number of available or total androgen receptor sites as measured by incubating prostatic cytosol with [3H]R1881. The present findings suggest that the impaired development of the male genital tract could be partially due to a diminished peripheral conversion of testosterone to its active, 5α-reduced metabolites.
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- 1981
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18. Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure.
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Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, and Dain L
- Subjects
- Argentina, Cohort Studies, Female, Gene Frequency, Heterozygote, Humans, Risk, Inhibins blood, Inhibins genetics, Polymorphism, Genetic, Primary Ovarian Insufficiency genetics
- Abstract
Background: Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin alpha-subunit (INHalpha) gene is proposed as a candidate gene due to its role in negative feedback control of FSH., Methods: Polymorphism -16C>T of INHalpha gene was studied in 61 POF patients and 82 controls above 40 years old (C > 40). Substitution 769G>A was studied in 59 POF patients, 76 C > 40 and 73 controls below 40 years old (C < 40)., Results: No significant difference in risk of POF development for -16T allele was found when comparing idiopathic POF (I-POF) with C > 40 (Odds ratio = 1.46; 95% confidence interval = 0.63-3.19). Implication of -16C>T polymorphism in serum inhibin levels was analysed in 46 controls, and no significant differences (P > 0.05) were found between CC and CT + TT genotype groups when comparing either mid-follicular phase Pro-alphaC and inhibin B values or mid-luteal phase Pro-alphaC and inhibin A values. Heterozygosity for substitution 769G>A was found in 1 of 59 POF woman, 2 of 76 C > 40 and 6 of 73 C < 40. Presence of this substitution in a relevant number of control subjects is herein described for the first time., Conclusion: Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.
- Published
- 2006
- Full Text
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