Browsing by Subject "exon"

Article

A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta

Mottes, M.; Sangalli, A.; Valli, M.; Forlino, A.; Gomez-Lira, M.; Antoniazzi, F.; Constantinou-Deltas, Constantinos D.; Cetta, G.; Pignatti, P. F. (1994)

Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint ...

Article

Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene

Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)

Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...

Article

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

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation

Neocleous, Vassos; Passalaris, T.; Spanou, E.; Kitsios, P.; Skordis, Nicos A.; Constantinou-Deltas, Constantinos D. (2004)

Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The ...

Article

Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5

Tsiakkis, D.; Pieri, Myrtani; Koupepidou, P.; Demosthenous, Panayiota; Panayidou, K.; Constantinou-Deltas, Constantinos D. (2012)

Article

Identification, Distribution and Physiological Activity of Three Novel Neuropeptides of Lymnaea: FLRlamide and pQFYRlamide Encoded by the FMRFamide Gene, and a Related Peptide

Santama, Niovi; Wheeler, C. H.; Skingsley, D. R.; Yeoman, M. S.; Bright, K.; Kaye, I.; Burke, J. F.; Benjamin, P. R. (1995)

We are interested in analysing the detailed modulation of defined neuronal systems by multiple neuropeptides encoded in the FMRFamide locus of the snail Lymnaea. Cloning of the FMRFamide gene has predicted the existence ...

Article

Lack of association between endothelial nitric oxide synthase gene polymorphisms and risk of premature coronary artery disease in the Greek population

Vasilakou, M.; Votteas, V.; Kasparian, C.; Pantazopoulos, N.; Dedoussis, George V. Z.; Constantinou-Deltas, Constantinos D.; Nastos, P.; Nikolakis, D.; Lamnissou, Klea (2008)

Objective - Genetic polymorphisms in the gene for endothelial nitric oxide synthase have been considered as potential risk factors for the development of coronary artery disease in some populations. Methods - We studied ...

Article

Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing

Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)

Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...

Article

New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles

Constantinides, Rolandos; Xenophontos, Stavroulla L.; Neophytou, Pavlos; Nomura, Shinsuke; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)

The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...

Article

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

Boteva, Kalina; Papageorgiou, Elena; Georgiou, Christina; Angastiniotis, Michael A.; Middleton, Lefkos T.; Constantinou-Deltas, Constantinos D. (1994)

Cyprus is an island in the eastern Mediter-ranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful ...

Article

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 ...

Article

NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome

Voskarides, Konstantinos; Makariou, Christiana; Papagregoriou, Gregory N.; Stergiou, Nikolaos; Printza, Nikoleta G.; Alexopoulos, Efstathios; Elia, Avraam; Papachristou, Fotios Th; Pierides, Alkis M.; Georgaki, Eleni; Constantinou-Deltas, Constantinos D. (2008)

Article

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2

Neocleous, Vassos; Skordis, Nicos A.; Portides, George; Efstathiou, Elisavet; Costi, Constantina Eleni; Ioannou, N.; Pantzaris, Marios C.; Anastasiadou, Violetta C.; Constantinou-Deltas, Constantinos D.; Phylactou, Leonidas A. (2011)

Background: RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been ...

Article

A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2)

Xenophontos, Stavroulla L.; Constantinides, Rolandos; Hayashi, Tomohito; Mochizuki, Toshio; Somlo, Stefan; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)

Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...