Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Duplication”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 91 records · Page 5Linked to original sources
PubMed2004

Metabolic activity of dextromethorphan O-demethylation in healthy Japanese volunteers carrying duplicated CYP2D6 genes: duplicated allele of CYP2D6*10 does not increase CYP2D6 metabolic activity.

BACKGROUND: This study was designed to assess the metabolic activities of dextromethorphan O-demethylation in healthy Japanese subjects carrying duplicated CYP2D6 alleles, CYP2D6*1 x 2, CYP2D6*2 x 2 or CYP2D6*10 x 2. METHODS: Forty-one unrelated healthy Japanese subjects containing carriers who had previously been genotyped as CYP2D6*1 x 2/*2, CYP2D6*1/*2 x 2, and CYP2D6*10/*10 x 2 were phenotyped with dextromethorphan. RESULTS: The metabolic ratios of dextromethorphan/dextrorphan in subjects with CYP2D6*1 x 2/*2 or CYP2D6*1/*2 x 2 were lower than those in subjects with CYP2D6*1/*2, while the metabolic ratios in subjects with CYP2D6*10/*10 x 2, as well as homozygotes for CYP2D6*10, were significantly (P<0.01) higher than those in homozygotes for CYP2D6*1. CONCLUSIONS: The results suggested that carriers with three functional CYP2D6 genes, CYP2D6*1 x 2/*2 or CYP2D6*1/*2 x 2, are ultrarapid metabolizer phenotypes in Japanese. The results also suggested that there is no gene-dose effect with the dextromethorphan O-demethylation activities between carriers with two and three CYP2D6*10 mutated genes per genome. Therefore, CYP2D6*10 x 2 may play an important role for the treatment of Japanese patients as well as CYP2D6*10 which is mainly responsible for the intermediate metabolizers in Japanese.

Adult↗
PubMed2005

Duplicate editorial on duplicate publication.

The authors define and discuss the various forms taken by duplicate publications, and provide suggested remedies to help authors, editors, reviewers, and readers avoid this form of internal plagiarism.

Duplicate Publications as Topic↗
PubMed1981

Duplication 3q: severe manifestations in an infant with duplication of a short segment of 3q.

A patient with duplication of a short segment of 3q (3q21 leads to 26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.

Abnormalities, Multiple↗
PubMed1983

Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment.

Two members of a large family had a similar multiple congenital anomalies mental retardation (MCA/MR) syndrome and an identical aberration of chromosome 16. Their mothers, who are first cousins, had a different abnormality of one chromosome 16, which appeared to be an acrocentric. We interpret these findings as an insertion of a segment of 16p into 16q. following a three-break rearrangement and meiotic crossing over. The two abnormal children have a duplication of 16p11 leads to p13. The clinical manifestations of these patients differ from those of previously reported cases of dup(16p).

Abnormalities, Multiple↗
PubMed2002

Duplicating dangerously: linking centrosome duplication and aneuploidy.

Centrosomes are far more fascinating than the first explorers of this organelle a century ago could ever have imagined. Recent evidence indicates that deregulation of centrosome duplication affects centrosome number and promotes aneuploidy, features characteristic of human tumors.

Aneuploidy↗
PubMed1987

Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

An adult female with sever mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (p12----p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23----8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication-deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

[Complications of pyelo-ureteral duplications in children and their surgical treatment. Apropos of 69 cases (78 pathogenic duplications)].

The authors report their experience on the surgical treatment of 69 infants and children with pyelo-ureteral duplication. Urinary infection was the main revealing symptom (52 cases). Vesico-ureteral reflux was the major associated anomaly (39 cases) involving most often the lower pole ureter; the surgical correction of the reflux was performed according to the technique of Cohen with a favorable outcome in all cases. Because of poorly functioning and dysplastic upper renal segment, partial upper pole nephrectomy was performed in 8 among 12 cases of associated ectopic ureteral orifice and in 9 among 15 cases of associated ureterocele. A reimplantation of the ureter was made possible in 3 cases of ectopic ureteral orifice and in 5 cases of ureterocele with little corresponding renal lesions. With the experience of one neonate who died from septic shock following partial nephrectomy there were no other post-operative complications in this series.

Adolescent↗
PubMed1998

Complete uterine septum with cervical duplication, longitudinal vaginal septum and duplication of a renal collecting system. A case report.

BACKGROUND: The incidence of congenital uterine anomalies in the general population is estimated at 0.001-10%. Müllerian defects are associated with an increased incidence of urinary anomalies, an increased risk of infertility, early pregnancy loss, premature rupture of membranes, preterm labor and malpresentation. CASE: A 34-year-old, infertile woman with a presumed diagnosis of uterine didelphys and a longitudinal vaginal septum was noted to have a thin, communicating membrane separating the uterine horns on magnetic resonance imaging (MRI). A communication between these two horns was noted on hysterosalpingography (HSG). The diagnosis of complete uterine septum was therefore established. Uterine leiomyomata and a complete duplication of the right renal collecting system were also noted. CONCLUSION: Cases of complete uterine and vaginal septum can be easily confused with uterine didelphys. Management of these two müllerian anomalies is different, with surgical correction usually needed in cases of complete uterine septum. The use of pelvic ultrasound, MRI and HSG aided in correctly diagnosing this unusual form of müllerian anomaly.

Adult↗
PubMed2005

Ray-fin fish tetraploidization gave rise to pufferfish duplicates of NPY and PYY, but zebrafish NPY duplicate was lost.

We have used sequence information and gene location to identify NPY family genes in the pufferfish, Takifugu rubripes (fugu), and zebrafish. Fugu has two copies of NPY, presumably resulting from the ray-fin fish tetraploidization. Zebrafish has probably lost one of the copies. Both species have two copies of PYY, the second of which was previously named PY. The two fugu NPY genes are predominantly expressed in brain. The two PYY genes are expressed in a broad range of tissues including brain and gonads. Thus, the NPY system appears to be more complex in teleosts than in tetrapods.

Animals↗