Browsing by Subject "Base Sequence"

Article

Samba, a Xenopus hnRNP expressed in neural and neural crest tissues

Yan, C. Y. I.; Skourides, Paris A.; Chang, Christopher C.; Brivanlou, A. (2009)

RNA binding proteins regulate gene expression at the posttranscriptional level and play important roles in embryonic development. Here, we report the cloning and expression of Samba, a Xenopus hnRNP that is maternally ...

Article

Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches

Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2009)

SURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA. It is much faster, cheaper, more sensitive, and easier to perform than other "traditional" mutation ...

Article

A sequence polymorphism in the 3′-nontranslated region of the proα1 chain of type I procollagen

Westerhausen, A. I.; Constantinou-Deltas, Constantinos D.; Prockop, D. J. (1990)

Article

Serum total homocysteine, folate, 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T genotype and subclinical atherosclerosis

Panayiotou, Antonia; Nicolaïdes, Andrew N.; Griffin, Maura B.; Tyllis, Theodosis K.; Georgiou, Niki; Martin, R. M.; Bond, Dawn; Tziakouri-Shiakalli, C.; Fessas, Charris H.; Constantinou-Deltas, Constantinos D. (2009)

Objective : To determine the relationship of serum total homocysteine (tHcy), serum folate and 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T genotype with ultrasonic arterial wall measurements associated with ...

Article

A single base mutation in type I procollagen (COL1A1) that converts glycine α1-541 to aspartate in a lethal variant of osteogenesis imperfecta: Detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR

Zhuang, J.; Constantinou-Deltas, Constantinos D.; Ganguly, A.; Prockop, D. J. (1991)

Skin fibroblasts from a proband with a lethal variant of osteogenesis imperfecta synthesized both apparently normal type I procollagen and a type I procollagen that had slow electrophoretic mobility because of posttranslational ...

Article

A single base mutation that converts glycine 907 of the α2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix

Baldwin, C. T.; Constantinou-Deltas, Constantinos D.; Dumars, K. W.; Prockop, D. J. (1989)

Type I procollagen was examined in cultured skin fibroblasts from a patient with a lethal variant of osteogenesis imperfecta. About half of the pro-α chains were post-translationally overmodified and had a decreased thermal ...

Article

The substitution of arginine for glycine 85 of the α1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen

Deak, S. B.; Scholz, P. M.; Amenta, P. S.; Constantinou-Deltas, Constantinos D.; Levi-Minzi, S. A.; Gonzalez-Lavin, L.; Mackenzie, J. W. (1991)

We report a case of mild osteogenesis imperfecta in a 56-year-old male undergoing aortic valve replacement surgery. The primary defect in this patient was the substitution of arginine for glycine 85 in one of the two chains ...

Article

Substitution of cysteine for glycine-α1-691 in the proα1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution

Steinmann, B.; Westerhausen, A.; Constantinou-Deltas, Constantinos D.; Superti-Furga, A.; Prockop, D. J. (1991)

Skin fibroblast from a proband with lethal osteogenesis imperfecta synthesized a type I procollagen containing a cysteine residue in the α1(I) helical domain. Assay of thermal stability of the triple helix by proteinase ...

Article

Substitutions for glycine α1-637 and glycine α2-694 of type I procollagen in lethal osteogenesis imperfecta: The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix

Tsuneyoshi, T.; Westerhausen, A.; Constantinou-Deltas, Constantinos D.; Prockop, D. J. (1991)

Two substitutions for glycine in the triple-helical domain were found in type I procollagen synthesized by skin fibroblasts from two probands with lethal osteogenesis imperfecta. One was a substitution of valine for glycine ...

Article

Type I procollagen: The gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue

Prockop, D. J.; Constantinou-Deltas, Constantinos D.; Dombrowski, K. E.; Hojima, Y.; Kadler, K. E.; Kuivaniemi, H.; Tromp, G.; Vogel, B. E. (1989)

Recent data from several laboratories have established that most variants of osteogenesis imperfecta (OI) are caused by mutations in the 2 structural genes for type I procollagen. There are 2 general reasons for the large ...

Article

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)