Browsing by Subject "gene deletion"

Article

Authors' reply

Constantinou-Deltas, Constantinos D.; Voskarides, Konstantinos (2010)

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Contrasting frequencies of CCR5Δ32 and CCR2-64I alleles in the Tunisian population [1]

Barbouche, R. M.; Hong, L.; Dellagi, K.; Kostrikis, Leontios G. (2001)

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Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom [3]

Yiallouros, P. K.; Neocleous, Vassos; Zeniou, M.; Adamidou, Despoina; Costi, Constantina Eleni; Christophi, C.; Tzetis, M.; Kanavakis, E.; Constantinou-Deltas, Constantinos D. (2007)

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Cystic fibrosis patients from the black sea region: The 1677delTA mutation

Angelicheva, D.; Boteva, Kalina; Jordanova, A.; Savov, A.; Kufardjieva, A.; Tolun, A.; Telatar, M.; Akarsubaşi, A.; Köprübaşi, F.; Aydoǧdu, S.; Demirkol, M.; Kurdoǧlu, G.; Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Dean, M.; Ivaschenko, T.; Baranov, V.; Kalaydjieva, L. (1994)

A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...

Article

Distinct transcriptional outputs associated with mono- and dimethylated histone H3 arginine 2

Kirmizis, Antonis; Santos-Rosa, H.; Penkett, C. J.; Singer, M. A.; Green, R. D.; Kouzarides, T. (2009)

Dimethylation of histone H3 Arg2 (H3R2me2) maintains transcriptional silencing by inhibiting Set1 mediated trimethylation of H3K4. Here we demonstrate that Arg2 is also monomethylated (H3R2me1) in yeast but that its ...

Article

Evidence for recent selection of the CCR5-Δ32 deletion from differences in its frequency between Ashkenazi and Sephardi Jews

Maayan, S.; Zhang, L.; Shinar, E.; Ho, J.; He, T.; Manni, N.; Kostrikis, Leontios G.; Neumann, A. U. (2000)

Recent studies have shown higher frequencies of the CCR5-Δ32 allele and the CCR5-A32/Δ32 genotype, which confers protection against HIV infection, in northern Europe as compared to Mediterranean countries. Here, we analyse ...

Article

Groucho mediates a Ci-independent mechanism of hedgehog repression in the anterior wing pouch

Apidianakis, Yiorgos; Grbavec, D.; Stifani, S.; Delidakis, Christos (2001)

Groucho (Gro) is the founding member of a family of transcriptional co-repressors that are recruited by a number of different transcription factors. Drosophila has a single gro gene, whose loss of function affects processes ...

Article

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Koufaris, Costas; Papagregoriou, Gregory N.; Kousoulidou, Ludmila; Moutafi, Maria; Tauber, Maïthé Thérèse; Jouret, Béatrice; Kieffer, Isabelle; Constantinou-Deltas, Constantinos D.; Tanteles, George A.; Anastasiadou, Violetta C.; Patsalis, Philippos C.; Sismani, Carolina (2015)

MicroRNA haploinsufficiency has been associated with developmental defects in only a limited number of cases. Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, ...

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Low frequency of CCR5Δ32 allele among Greeks in Cyprus

Christodoulou, Chris C.; Poullikas, M.; Neumann, A. U.; Kostrikis, Leontios G. (1997)

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Neural hyperplasia induced by RNA interference with m4/mα gene activity

Nagel, A. C.; Apidianakis, Yiorgos; Wech, I.; Maier, D.; Delidakis, Christos; Preiss, A. (2000)

The E(spl) complex (E(spl)-C) contains three different classes of genes that are downstream of Notch signaling. The bHLH genes mediate the Notch signal by repressing proneural gene activity, for example during the ...

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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1

Koptides, Michael; Mean, R.; Stavrou, Christoforos V.; Pierides, Alkis M.; Demetriou, Kyproula; Nakayama, T.; Hildebrandt, F.; Fuchshuber, A.; Constantinou-Deltas, Constantinos D. (2001)

Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...

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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families

Bouba, I.; Koptides, Michael; Mean, R.; Costi, Constantina Eleni; Demetriou, Kyproula; Georgiou, Ioannis A.; Pierides, Alkis M.; Siamopoulos, K.; Constantinou-Deltas, Constantinos D. (2001)

The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1: 1000 individuals of the Caucasian population. The main symptom is the ...

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ΔF508 cystic fibrosis mutation appears very infrequently in the Greek‐Cypriot community of Cyprus

Constantinou-Deltas, Constantinos D.; Georgiou, Christina; Ioannou, Panayiotis A.; Angastiniotis, Michael A.; Aristodemou, Elena (1992)