Search Results - "VOUTETAKIS, A"

HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF by Xekouki, P., Konstantinidou, A., Tatsi, C., Sertedaki, A., Settas, N., Loutradis, D., Chrousos, G. P., Kanaka-Gantenbein, C., Dacou-Voutetakis, C., Voutetakis, A.

“…Premature ovarian failure (POF) defines the occurrence of ovarian failure prior to the age of 40. It occurs in one out of 100 women but is very rare before age…”
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Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population by Stamou, M I, Varnavas, P, Kentrou, M, Adamidou, F, Voutetakis, A, Jing, J, Plummer, L, Koika, V, Georgopoulos, N A

“…Isolated gonadotropin-releasing hormone (GNRH) deficiency (IGD) is a rare highly heterogeneous disorder characterized by abnormal pubertal development and/or…”
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Routine method for the simultaneous quantification of 17α-hydroxyprogesterone, testosterone, dehydroepiandrosterone, androstenedione, cortisol, and pregnenolone in human serum of neonates using gas chromatography–mass spectrometry by Magnisali, P., Dracopoulou, M., Mataragas, M., Dacou-Voutetakis, A., Moutsatsou, P.

“…Steroid determination by immunoassays results in significant interferences and inaccurate results. This study describes the development and validation of a new…”
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Protein kinase A and its role in human neoplasia: the Carney complex paradigm by Bossis, I, Voutetakis, A, Bei, T, Sandrini, F, Griffin, K J, Stratakis, C A

“…The type 1 alpha regulatory subunit (R1alpha) of cAMP-dependent protein kinase A (PKA) (PRKAR1A) is an important regulator of the serine-threonine kinase…”
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A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions by Griffin, K J, Kirschner, L S, Matyakhina, L, Stergiopoulos, S G, Robinson-White, A, Lenherr, S M, Weinberg, F D, Claflin, E S, Batista, D, Bourdeau, I, Voutetakis, A, Sandrini, F, Meoli, E M, Bauer, A J, Cho-Chung, Y S, Bornstein, S R, Carney, J A, Stratakis, C A

“…Background: Inactivation of the human type Iα regulatory subunit (RIα) of cyclic AMP dependent protein kinase (PKA) (PRKAR1A) leads to altered kinase activity,…”
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Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: factors influencing the outcome by Manoli, I., Kanaka-Gantenbein, Ch, Voutetakis, A., Maniati-Christidi, M., Dacou-Voutetakis, C.

“…Summary objective The management of children with congenital adrenal hyperplasia (CAH) remains a challenge, especially with regard to growth potentials. The…”
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AAV5-mediated gene transfer to the parotid glands of non-human primates by Voutetakis, A, Zheng, C, Cotrim, A P, Mineshiba, F, Afione, S, Roescher, N, Swaim, W D, Metzger, M, Eckhaus, M A, Donahue, R E, Dunbar, C E, Chiorini, J A, Baum, B J

“…Salivary glands are potentially useful target sites for multiple clinical applications of gene transfer. Previously, we have shown that serotype 2…”
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Rapamycin control of transgene expression from a single AAV vector in mouse salivary glands by WANG, J, VOUTETAKIS, A, PAPA, M, RIVERA, V. M, CLACKSON, T, LODDE, B. M, MINESHIBA, F, BAUM, B. J

“…Salivary glands (SGs) appear to be a useful target site for gene therapeutics. The ability to control transgene expression is essential for clinical…”
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Gender differences in serotype 2 adeno-associated virus biodistribution after administration to rodent salivary glands by Voutetakis, A, Zheng, C, Wang, J, Goldsmith, C M, Afione, S, Chiorini, J A, Wenk, M L, Vallant, M, Irwin, R D, Baum, B J

“…Salivary glands (SGs) have proven useful targets for clinical applications of gene therapeutics. In this toxicology and biodistribution study, which conforms…”
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Rapamycin control of exocrine protein levels in saliva after adenoviral vector-mediated gene transfer by WANG, J, VOUTETAKIS, A, ZHENG, C, BAUM, B. J

“…Transgene-encoded therapeutic secretory proteins can be efficiently secreted from salivary glands into saliva or the bloodstream after adenoviral (Ad)-mediated…”
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Gene symbol: PROP1. Disease: multiple pituitary hormone deficiency by Sertedaki, A, Voutetakis, A, Maniati-Christidi, A, Kanaka-Gantenbein, Ch, Dracopoulou, M, Argyropoulou, M, Livadas, S, Dacou-Voutetakis, A, Sertedaki, A

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A pleiomorphic GH pituitary adenoma from a Carney complex patient displays universal allelic loss at the protein kinase A regulatory subunit 1A (PRKARIA) locus by Bossis, I, Voutetakis, A, Matyakhina, L, Pack, S, Abu-Asab, M, Bourdeau, I, Griffin, K J, Courcoutsakis, N, Stergiopoulos, S, Batista, D, Tsokos, M, Stratakis, C A

“…Carney complex (CNC) is a familial multiple endocrine neoplasia syndrome associated with GH-producing pituitary tumours and transmitted as an autosomal…”
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Low serum insulin values in children with multiple lesions of granuloma annulare: a prospective study by Kakourou, T, Psychou, F, Voutetakis, A, Xaidara, A, Stefanaki, K, Dacou-Voutetakis, C

“…ABSTRACT Background  The relationship between granuloma annularae (GA) and diabetes mellitus (DM) is controversial. Objective  To investigate the relationship…”
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Pituitary size fluctuation in long-term MR studies of PROP1 deficient patients: A persistent pathophysiological mechanism? by Voutetakis, A, Sertedaki, A, Livadas, S, Xekouki, P, Bossis, I, Dacou-Voutetakis, C, Argyropoulou, M I

“…Inactivating PROP1 gene alterations are responsible for over 50% of familial combined pituitary hormone deficiency cases. Pituitary enlargement followed by…”
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Evaluation of a rapamycin-regulated serotype 2 adeno-associated viral vector in macaque parotid glands by Zheng, C, Voutetakis, A, Metzger, M, Afione, S, Cotrim, AP, Eckhaus, MA, Rivera, VM, Clackson, T, Chiorini, JA, Donahue, RE, Dunbar, CE, Baum, BJ

“…Oral Diseases (2010) 16, 269–277 Objectives:  Salivary glands are useful target organs for local and systemic gene therapeutics. For such applications, the…”
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674. Administration of rAAV2 and rAAV5 to the Parotid Gland of Non-Human Primates by Voutetakis, A., Zheng, C., Chiorini, J.A., Schmidt, M., Afione, S., Metzger, M., Dunbar, C., Donahue, R.E., Baum, B.J.

“…Previous studies from our laboratory showed that therapeutic levels of transgene expression were obtained from mouse submandibular glands after retro-ductal…”
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Toxicity and biodistribution of a first-generation recombinant adenoviral vector, in the presence of hydroxychloroquine, following retroductal delivery to a single rat submandibular gland by Zheng, C, Voutetakis, A, Kok, MR, Goldsmith, CM, Smith, GBJ, Elmore, S, Nyska, A, Vallant, M, Irwin, RD, Baum, BJ

“…Objective:  We examined the toxicity and biodistribution associated with a single administration of a first‐generation, serotype 5, adenoviral vector encoding…”
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Gene symbol: TSH B. Disease: congenital hypothyroidism by Sertedaki, A, Papadimitriou, A, Voutetakis, A, Dracopoulou, A, Maniati-Christidi, M, Dacou-Voutetakis, C

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Insufficient adrenarche in patients with combined pituitary hormone deficiency caused by a PROP-1 gene defect by Voutetakis, A, Livadas, S, Sertedaki, A, Maniati-Christidi, M, Dacou-Voutetakis, C

“…Adrenarche was evaluated in five patients, aged 17.4 +/- 3 years, with combined pituitary hormone deficiency (CPHD), caused by a PROP-1 gene defect…”
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Human Growth Hormone and Gonadotropin Releasing Hormone Analog Combination Therapy Increases Predicted Height in Short Normal Girls by Maniati-Christidi, M., Livadas, S., Voutetakis, A., Tolis, G., Dacou-Voutetakis, C.

“…The “short normal” child constitutes a real challenge for the pediatric endocrinologist. In a subgroup of short normal children, puberty starts at a normal age…”
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