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154 records – page 1 of 16.

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

https://arctichealth.org/en/permalink/ahliterature9889
Source
Clin Genet. 2002 Oct;62(4):288-97
Publication Type
Article
Date
Oct-2002
Author
Y. Floderus
P M Shoolingin-Jordan
P. Harper
Author Affiliation
Porphyria Centre Sweden, Huddinge University Hospital, Stockholm, Sweden.
Source
Clin Genet. 2002 Oct;62(4):288-97
Date
Oct-2002
Language
English
Publication Type
Article
Keywords
Codon, Nonsense
DNA Mutational Analysis
Exons
Female
Genetic Screening
Humans
Hydroxymethylbilane Synthase - blood - chemistry - genetics
Male
Mutation, Missense
Porphyria, Acute Intermittent - genetics - physiopathology
Research Support, Non-U.S. Gov't
Sweden
Abstract
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficit of porphobilinogen deaminase (PBGD), the third of eight enzymes in the haem biosynthetic pathway. The overt disease is characterized by neuropsychiatric symptoms that are often triggered by exogenous factors such as certain drugs, stress, and alcohol. The aim of this work has been to identify the underlying genetic defect in each AIP-affected family in order to provide early counselling to assist in the avoidance of precipitating factors. The prevalence of AIP in Sweden is in the order of 1:10 000. The major mutation in Sweden, W198X, is due to a founder effect in the northern part of the country. This mutation, together with a further 11 mutations, have been reported previously. The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene. This includes 14 completely new mutations, as well as 11 known mutations detected for the first time in Sweden. The majority of the mutations are located in exons 10 and 12 with fewer in exon 7. The clinical and biochemical outcomes in some patients are described. We also use the three-dimensional structure of the porphobilinogen deaminase enzyme to predict the possible molecular and functional consequences of the new Swedish missense and nonsense mutations.
PubMed ID
12372055 View in PubMed
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Altered distribution of mannose-binding lectin alleles at exon I codon 54 in women with vulvar vestibulitis syndrome.

https://arctichealth.org/en/permalink/ahliterature30102
Source
Am J Obstet Gynecol. 2004 Sep;191(3):762-6
Publication Type
Article
Date
Sep-2004
Author
Oksana Babula
Ingela Danielsson
Inga Sjoberg
William J Ledger
Steven S Witkin
Author Affiliation
Department of Obstetrics and Gynecology, Weill Medical College of Cornell University, New York, NY 10021, USA.
Source
Am J Obstet Gynecol. 2004 Sep;191(3):762-6
Date
Sep-2004
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Child
Codon - genetics
Exons - genetics
Female
Heterozygote
Homozygote
Humans
Mannose-Binding Lectin - genetics
Middle Aged
Polymorphism, Genetic
Vulvitis - blood - genetics - microbiology
Abstract
OBJECTIVES: Mannose-binding lectin (MBL) is active in the innate immune defense against microorganisms. In this study, we determined whether vulvar vestibulitis syndrome, a disorder of unknown etiology, was associated with an altered distribution of MBL alleles. STUDY DESIGN: Buccal swabs were obtained from women with vulvar vestibulitis syndrome in New York (62) and from 2 cities in Sweden (60), as well as control women in New York (48) and Sweden (51). DNA was tested for a single nucleotide polymorphism at codon 54 in exon I by polymerase chain reaction, endonuclease digestion, and gel electrophoresis. Blood samples were also obtained from the New York women and tested by ELISA for plasma MBL concentrations. The relationships between genotype, allele frequencies, blood MBL levels, and diagnosis were analyzed by Fisher exact test and one-way analysis of variance. RESULTS: The variant MBL allele, MBL*B, was detected in 35.5% and 26.7% of vulvar vestibulitis patients from New York and Sweden, respectively. Only 12.5% of New York controls (P=.007) and 9.8% of Swedish controls (P=.01) were MBL*2-positive. All women, with one exception, who were positive for MBL*B were MBL*A/MBL*B heterozygotes. Women who carried MBL*B had almost a 10-fold reduction in median plasma MBL concentrations (278 ng/mL), as opposed to women who were MBL*A homozygotes (1980 ng/mL) (P
PubMed ID
15467537 View in PubMed
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Amyloid precursor protein gene mutation at codon 670/671 in familial Alzheimer's disease in Sweden.

https://arctichealth.org/en/permalink/ahliterature218886
Source
Biochem Soc Trans. 1994 Feb;22(1):176-9
Publication Type
Article
Date
Feb-1994

[Antisense oligonucleotides as potential drugs for prophylaxis of prion infections]

https://arctichealth.org/en/permalink/ahliterature97378
Source
Ukr Biokhim Zh. 2009 Jul-Aug;81(4):112-6
Publication Type
Article
Author
V V Stadnyk
L A Iziumova
Iu A Rzhepets'kyi
Kh Ia Maior
P I Verbyts'kyi
V V Vlizlo
Source
Ukr Biokhim Zh. 2009 Jul-Aug;81(4):112-6
Language
Ukrainian
Publication Type
Article
Keywords
Animals
Brain - drug effects - metabolism
Cell Line, Tumor
Codon, Initiator - genetics
Intestine, Small - drug effects - metabolism
Leukemia L1210
Liposomes
Mice
Oligodeoxyribonucleotides, Antisense - administration & dosage - pharmacology - therapeutic use
PrPC Proteins - biosynthesis - genetics
Prion Diseases - prevention & control
Rats
Spleen - drug effects - metabolism
Abstract
Prion mRNA translation inhibition by antisense oligodeoxynucleotides (asODN) incorporated into immunoliposomes was investigated. It was shown that asODN complementary to cap region, start-codon region and a part of open reading frame can decrease the prion expression by 80% in L1210 cell line and by 60% in prion-replicating organs of laboratory rats. These results give grounds for further research asODN to be used as a means of prevention and treatment of prion infections.
PubMed ID
20387641 View in PubMed
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Assay of HIV gp41 amino acid sequence to identify baseline variation and mutation development in patients with virologic failure on enfuvirtide.

https://arctichealth.org/en/permalink/ahliterature165857
Source
Antiviral Res. 2007 Jul;75(1):58-63
Publication Type
Article
Date
Jul-2007
Author
M R Loutfy
J M Raboud
J S G Montaner
T. Antoniou
B. Wynhoven
F. Smaill
D. Rouleau
J. Gill
W. Schlech
Z L Brumme
T. Mo
K. Gough
A. Rachlis
P R Harrigan
S L Walmsley
Author Affiliation
University of Toronto, Toronto, Ont., Canada. mloutfy@nygh.on.ca
Source
Antiviral Res. 2007 Jul;75(1):58-63
Date
Jul-2007
Language
English
Publication Type
Article
Keywords
Adult
Amino Acid Sequence
Amino Acid Substitution
Base Pairing
Base Sequence
Canada - epidemiology
Codon
Drug Resistance, Viral - genetics
Female
Genetic Variation
HIV Envelope Protein gp41 - blood - therapeutic use
HIV Fusion Inhibitors - blood - therapeutic use
HIV Infections - blood - epidemiology - virology
HIV-1 - drug effects - genetics
Humans
Male
Middle Aged
Molecular Sequence Data
Mutagenesis, Insertional
Mutation
Peptide Fragments - blood - therapeutic use
Polymorphism, Genetic
Prevalence
RNA, Viral - blood - genetics
Reproducibility of Results
Retrospective Studies
Reverse Transcriptase Polymerase Chain Reaction
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Abstract
In this study, we retrospectively assessed a gp41 genotypic assay in 404 enfuvirtide-na?ve individuals (340 clade B, 64 non-B clade) to determine the prevalence of baseline polymorphisms and in 41 patients virologically failing enfuvirtide to determine correlates of resistance to this agent. Conserved and polymorphic regions of gp41 were identified in clade B isolates, with 127 of 328 codons (38.7%) being highly conserved (
PubMed ID
17196268 View in PubMed
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Association between AGT codon 235 polymorphism and variation in serum concentrations of creatinine and urea in Canadian Oji-Cree.

https://arctichealth.org/en/permalink/ahliterature201134
Source
Clin Genet. 1999 Jun;55(6):438-43
Publication Type
Article
Date
Jun-1999
Author
R A Hegele
S B Harris
A J Hanley
B. Zinman
Author Affiliation
Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada. robert.hegele@rri.on.ca
Source
Clin Genet. 1999 Jun;55(6):438-43
Date
Jun-1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
American Native Continental Ancestry Group - genetics
Angiotensinogen - genetics
Blood Pressure - genetics
Canada
Child
Codon
Creatinine - blood
Female
Gene Frequency
Genotype
Humans
Kidney Function Tests
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Urea - blood
Abstract
Finding the genetic determinants of intermediate quantitative traits, such as serum creatinine and urea, might aid in finding the determinants of disease phenotypes, such as renal failure, that are, in part, defined according to threshold values imposed upon such traits. We evaluated the association between common variation in the gene encoding angiotensinogen, AGT, and the serum concentrations of creatinine and urea in non-diabetic Canadian Oji-Cree. We determined genotypes of the AGT codon 235 polymorphism among 502 non-diabetic Oji-Cree. We used multivariate analysis of variance to identify significant determinants of variation in serum concentrations of creatinine and urea and of systolic and diastolic blood pressure. We found significant associations between the AGT codon 235 genotype and serum concentrations of creatinine and urea (p = 0.017 and 0.049, respectively) and systolic blood pressure (p = 0.041). Compared with subjects with the other two genotypes, homozygotes for AGT T235/T235 had significantly lower serum concentrations of creatinine and urea and significantly higher mean systolic blood pressure. The findings suggest that the AGT T235 allele is a determinant of intermediate traits related to renal function in these aboriginal Canadians.
PubMed ID
10450860 View in PubMed
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Association between the p21 codon 31 A1 (arg) allele and lung cancer.

https://arctichealth.org/en/permalink/ahliterature22581
Source
Hum Hered. 1996 Jul-Aug;46(4):221-5
Publication Type
Article
Author
A. Själander
R. Birgander
A. Rannug
A K Alexandrie
G. Tornling
G. Beckman
Author Affiliation
Department of Medical Genetics, Umeå University, Sweden.
Source
Hum Hered. 1996 Jul-Aug;46(4):221-5
Language
English
Publication Type
Article
Keywords
Alleles
Arginine - genetics
Codon - genetics
Cyclin-Dependent Kinase Inhibitor p21
Cyclins - genetics
Gene Frequency
Humans
Lung Diseases, Obstructive - genetics
Lung Neoplasms - genetics
Polymorphism, Genetic
Research Support, Non-U.S. Gov't
Smoking
Sweden
Abstract
In previous investigations p53 polymorphisms and haplotypes have been found to be associated with different types of cancer. In this paper the codon 31 polymorphism of the p53-inducible protein p21 was studied in 144 Swedish lung cancer patients and two different control groups: 95 patients with chronic obstructive pulmonary disease (COPD) and 761 healthy controls. An increased frequency of the p21 codon 31 A1 (arg) allele was found in lung cancer patients, especially in comparison with COPD patients (p = 0.004). There was a significantly increased frequency among lung cancer patients of individuals carrying the arg allele both in comparison with COPD controls (OR = 5.2, 95% CI 1.5-18.1) and healthy controls (OR = 1.7, 95% CI = 1.0-2.9). The results of this and previous studies indicate that allelic variants of both p53 and its effector protein p21 may have an influence on lung cancer.
PubMed ID
8807325 View in PubMed
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Atypical characteristics of nucleoprotein of pandemic influenza virus H1N1 and their roles in reassortment restriction.

https://arctichealth.org/en/permalink/ahliterature136826
Source
Arch Virol. 2011 Jun;156(6):1031-40
Publication Type
Article
Date
Jun-2011
Author
Asawin Wanitchang
Prasatha Patarasirin
Juggragarn Jengarn
Anan Jongkaewwattana
Author Affiliation
Virology and Cell Technology Laboratory, National Center for Genetic Engineering and Biotechnology (BIOTEC), 113 Phaholyothin Rd., Klong 1, Klong Luang, Pathumthani 12120, Thailand.
Source
Arch Virol. 2011 Jun;156(6):1031-40
Date
Jun-2011
Language
English
Publication Type
Article
Keywords
Animals
Blotting, Western
Cell Line
Codon, Initiator
Dogs
HEK293 Cells
Humans
Influenza A Virus, H1N1 Subtype - genetics - physiology
Influenza, Human - epidemiology - virology
Mutation
Pandemics
RNA Replicase - metabolism
RNA-Binding Proteins - genetics - metabolism
Reassortant Viruses - genetics - physiology
Recombination, Genetic
Reverse Transcriptase Polymerase Chain Reaction
Ribonucleoproteins - metabolism
Viral Core Proteins - genetics - metabolism
Viral Proteins - metabolism
Abstract
Sequence analysis of the nucleoprotein (NP) of swine-origin influenza virus H1N1 (S-OIV) reveals a number of atypical characteristics including an early start codon and a highly conserved, non-aromatic residue at position 313. Using an in vitro viral polymerase reconstitution assay, we found that the polymerase complex containing the NP of S-OIV (NP(S-OIV)) yielded substantially lower activity than those assayed with NP derived from other influenza virus strains. Moreover, alteration of the early start codon or introduction of an aromatic residue at position 313 (V313Y) did not increase but instead exacerbated the poor polymerase activity. Interestingly, when NP(S-OIV) was allowed to compete with that of a mouse-adapted influenza virus (A/PR/8/34) to form progeny virions, only progeny bearing NP(S-OIV) were produced, despite the low polymerase activity associated with NP(S-OIV). Our results indicated that NP(S-OIV) requires both the early start codon and the V313 residue for its optimal function. These characteristics are required for a strong compatibility between the S-OIV polymerase subunits and its indigenous NP over that of other strains, which might explain why productive reassortment between S-OIV and seasonal influenza viruses has yet to occur in nature.
PubMed ID
21340741 View in PubMed
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Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

https://arctichealth.org/en/permalink/ahliterature32895
Source
Am J Hum Genet. 2000 Feb;66(2):368-77
Publication Type
Article
Date
Feb-2000
Author
M. Melkoniemi
H G Brunner
S. Manouvrier
R. Hennekam
A. Superti-Furga
H. Kääriäinen
R M Pauli
T. van Essen
M L Warman
J. Bonaventure
P. Miny
L. Ala-Kokko
Author Affiliation
Collagen Research Unit, Biocenter, Department of Medical Biochemistry, University of Oulu, Kajaanintie 52A, FIN-90220 Oulu, Finland.
Source
Am J Hum Genet. 2000 Feb;66(2):368-77
Date
Feb-2000
Language
English
Publication Type
Article
Keywords
Adult
Alternative Splicing - genetics
Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Codon, Terminator - genetics
Collagen - deficiency - genetics
Consanguinity
Deafness - genetics - physiopathology
Diseases in Twins - genetics
Exons - genetics
Female
Genes, Recessive - genetics
Humans
Infant
Male
Molecular Sequence Data
Mutation - genetics
Osteochondrodysplasias - genetics - physiopathology - radiography
Pedigree
RNA, Messenger - analysis - genetics
Research Support, U.S. Gov't, P.H.S.
Sequence Deletion - genetics
Abstract
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders-Stickler and Marshall syndromes-but can be distinguished by disproportionately short limbs, severe hearing loss, and lack of ocular involvement. In one family with OSMED, a homozygous Gly-->Arg substitution has been described in COL11A2, which codes for the alpha2 chain of type XI collagen. We report seven further families with OSMED. All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, an extremely flat face, hypoplasia of the mandible, a short nose with anteverted nares, and a flat nasal bridge. We screened affected individuals for mutations in COL11A2 and found different mutations in each family. Individuals from four families, including three with consanguineous parents, were homozygous for mutations. Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 are predicted to cause premature termination of translation, and 1 is predicted to cause an in-frame deletion. We conclude that the OSMED phenotype is highly homogenous and results from homozygosity or compound heterozygosity for COL11A2 mutations, most of which are predicted to cause complete absence of alpha2(XI) chains.
PubMed ID
10677296 View in PubMed
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Biological significance of allele specific loss of the p53 gene in breast carcinomas.

https://arctichealth.org/en/permalink/ahliterature154744
Source
Breast Cancer Res Treat. 2009 Nov;118(1):15-20
Publication Type
Article
Date
Nov-2009
Author
Pia P Wegman
Nashwan J Marcus
Breezy Paul Malakkaran
Sten Wingren
Author Affiliation
Department of Health and Medical Sciences, Orebro University, 701 82, Orebro, Sweden.
Source
Breast Cancer Res Treat. 2009 Nov;118(1):15-20
Date
Nov-2009
Language
English
Publication Type
Article
Keywords
Age of Onset
Aged
Aged, 80 and over
Alleles
Breast Neoplasms - epidemiology - genetics - pathology
Carcinoma - epidemiology - genetics - pathology
Codon - genetics
Estrogens
Female
Genes, p53
Humans
Kaplan-Meier Estimate
Loss of Heterozygosity
Lymphatic Metastasis
Middle Aged
Neoplasm Proteins - analysis
Neoplasms, Hormone-Dependent - epidemiology - genetics - pathology
Polymorphism, Single Nucleotide
Postmenopause
Prognosis
Receptors, Estrogen - analysis
S Phase
Sweden - epidemiology
Abstract
The p53 tumor suppressor gene has a central role in the defense against cancer, including breast cancer, and contains a polymorphic variant (Arg/Pro) at codon 72 that has been shown to have different biological properties regarding apoptosis and cell cycle arrest. Earlier studies have shown allele specific loss of heterozygosity (LOH) at this particular site and we aimed to investigate its biological relevance in codon 72 heterozygous breast cancer patients (i.e., survival and age of disease onset). 199 postmenopausal cases were analyzed for LOH using MegaBACE(1000) and statistics was performed using Statistical Package for Social Sciences. LOH was found in totally 124 (62.3%) patients and the Pro allele (n = 103) was significantly more often deleted compared to the Arg allele (n = 21) (P = 0.001). Patients with LOH of the Arg allele were diagnosed at an earlier age (mean age 62.5 years) than those with loss of the Pro allele (mean age 69.2 years) (P = 0.011). LOH of the Arg allele was also associated with worse survival (P = 0.05). LOH in comparison to ROH correlated significantly with increased S-phase fraction. Tumor size, stage or number of positive lymph nodes was not related to LOH. Our results and earlier findings suggest a selective loss of the Pro allele during carcinogenesis that might confer a growth advantage for cancer cells. On the other hand, it appears to be more harmful for patients to loose the Arg allele since we found that loss of this allele was associated with earlier onset and worse prognosis.
PubMed ID
18853251 View in PubMed
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154 records – page 1 of 16.