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177 records – page 1 of 18.

A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature156293
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Publication Type
Article
Date
Aug-2008
Author
Wendy J Broom
Matthew Greenway
Ghazaleh Sadri-Vakili
Carsten Russ
Kristen E Auwarter
Kelly E Glajch
Nicolas Dupre
Robert J Swingler
Shaun Purcell
Caroline Hayward
Peter C Sapp
Diane McKenna-Yasek
Paul N Valdmanis
Jean-Pierre Bouchard
Vincent Meininger
Betsy A Hosler
Jonathan D Glass
Meraida Polack
Guy A Rouleau
Jang-Ho J Cha
Orla Hardiman
Robert H Brown
Author Affiliation
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. wendy.broom@gmail.com
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Age of Onset
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Base Sequence
DNA Mutational Analysis
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Homozygote
Humans
Ireland - epidemiology
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
Quebec - epidemiology
Risk factors
Scotland - epidemiology
Sequence Deletion
Sp1 Transcription Factor - metabolism
Superoxide Dismutase - genetics - metabolism
United States - epidemiology
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, Scotland, Quebec and the USA was genotyped for the 50bp SOD1 promoter deletion. Reporter gene expression analysis, electrophoretic mobility shift assays and chromatin immunoprecipitation studies were utilized to examine the functional effects of the deletion. The genetic association for homozygosity for the promoter deletion with an increased age of symptom onset was confirmed overall in this further study (p=0.032), although it was only statistically significant in the Irish subset, and remained highly significant in the combined set of all cohorts (p=0.001). Functional studies demonstrated that this polymorphism reduces the activity of the SOD1 promoter by approximately 50%. In addition we revealed that the transcription factor SP1 binds within the 50bp deletion region in vitro and in vivo. Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations.
PubMed ID
18608091 View in PubMed
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A 50?bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden.

https://arctichealth.org/en/permalink/ahliterature286592
Source
Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):452-7
Publication Type
Article
Author
Caroline Ingre
Anna Wuolikainen
Stefan L Marklund
Anna Birve
Rayomand Press
Peter M Andersen
Source
Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):452-7
Language
English
Publication Type
Article
Keywords
Adult
Aged
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Analysis of Variance
Cohort Studies
Erythrocytes - enzymology
Female
Genotype
Humans
Male
Middle Aged
Polymorphism, Genetic - genetics
Sequence Deletion - genetics
Superoxide Dismutase-1 - genetics - metabolism
Sweden - epidemiology
Abstract
Mutations in the superoxide dismutase (SOD1) gene have been linked to amyotrophic lateral sclerosis (ALS). A 50 base pair (bp) deletion of SOD1 has been suggested to reduce transcription and to be associated with later disease onset in ALS. This study was aimed to reveal if the 50?bp deletion influenced SOD1 enzymatic activity, occurrence and phenotype of the disease in a Swedish ALS/control cohort. Blood samples from 512 Swedish ALS patients and 354 Swedish controls without coding SOD1 mutations were analysed for the 50?bp deletion allele. The enzymatic activity of SOD1 in erythrocytes was analysed and genotype-phenotype correlations were assessed. Results demonstrated that the genotype frequencies of the 50?bp deletion were all found to be in Hardy-Weinberg equilibrium. No significant differences were found for age of onset, disease duration or site of onset. SOD1 enzymatic activity showed a statistically significant decreasing trend in the control group, in which the allele was associated with a 5% reduction in SOD1 activity. The results suggest that the 50?bp deletion has a moderate reducing effect on SOD1 synthesis. No modulating effects, however, were found on ALS onset, phenotype and survival in the Swedish population.
PubMed ID
27002425 View in PubMed
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657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.

https://arctichealth.org/en/permalink/ahliterature184730
Source
Am J Med Genet A. 2003 Jul 15;120A(2):174-9
Publication Type
Article
Date
Jul-15-2003
Author
Igor B Resnick
Irina Kondratenko
Eugeni Pashanov
Alexey A Maschan
Alexander Karachunsky
Oleg Togoev
Andrey Timakov
Alexander Polyakov
Svetlana Tverskaya
Oleg Evgrafov
Alexander G Roumiantsev
Author Affiliation
Department of Immunology, Research Institute for Paediatric Hematology, Moscow, Russia. gashka@hadassah.org.il
Source
Am J Med Genet A. 2003 Jul 15;120A(2):174-9
Date
Jul-15-2003
Language
English
Publication Type
Article
Keywords
Base Sequence
Child
Child, Preschool
Chromosome Breakage - genetics
Chromosomes, Human, Pair 8
Cohort Studies
Genetic Predisposition to Disease
Genetic Testing
Heterozygote
Humans
Loss of Heterozygosity
Lymphoma, Non-Hodgkin - genetics - pathology
Lymphoproliferative Disorders - genetics - pathology
Male
Mutation
Pedigree
Pilot Projects
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics - pathology
Russia
Sequence Deletion
Syndrome
Abstract
Nijmegen breakage syndrome (NBS, OMIM 251260) is a rare hereditary disease, characterized by immune deficiency, microcephaly, and an extremely high incidence of lymphoid tissue malignancies. The gene mutated in NBS, NBS1, was recently cloned from its location on chromosome 8q21. The encoded protein, nibrin (p95), together with hMre11 and hRad50, is involved in the double-strand DNA break repair system. We screened two Russian cohorts for the 657del5 NBS1 mutation and found no carriers in 548 controls and two carriers in 68 patients with lymphoid malignancies: one with acute lymphoblastic leukemia (ALL) and one with non-Hodgkin lymphoma (NHL). Several relatives of the second patient, who were carriers of the same mutation, had cancer (ALL, breast cancer, GI cancers). These preliminary data suggest that NBS1 mutation carriers can be predisposed to malignant disorders.
PubMed ID
12833396 View in PubMed
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Abnormal regulation of the LDL-R and HMG CoA reductase genes in subjects with familial hypercholesterolemia with the "French Canadian mutation".

https://arctichealth.org/en/permalink/ahliterature211598
Source
Atherosclerosis. 1996 Jul;124(1):103-17
Publication Type
Article
Date
Jul-1996
Author
L. Yu
S. Qiu
J. Genest
Author Affiliation
Cardiovascular Genetics Laboratory, Clinical Research Institute of Montréal, Québec Canada.
Source
Atherosclerosis. 1996 Jul;124(1):103-17
Date
Jul-1996
Language
English
Publication Type
Article
Keywords
Anticholesteremic Agents - pharmacology - therapeutic use
Canada - epidemiology
Cells, Cultured
Enzyme Induction
Enzyme Inhibitors - pharmacology - therapeutic use
Ethnic Groups - genetics
Female
Fibroblasts - metabolism
France - ethnology
Gene Expression Regulation - drug effects
Haploidy
Humans
Hydroxymethylglutaryl CoA Reductases - genetics
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Hyperlipoproteinemia Type II - drug therapy - ethnology - genetics
Lipoproteins, LDL - metabolism
Lovastatin - pharmacology - therapeutic use
Male
Prevalence
RNA, Messenger - biosynthesis - genetics
Receptors, LDL - genetics - metabolism
Sequence Deletion
Transcription, Genetic
Treatment Failure
Abstract
Familial hypercholesterolemia (FH) is seen with high frequency in the province of Québec, Canada. A large deletion (> 10 kb) of the 5'-end of the low density lipoprotein receptor (LDL-R) gene is the major mutation of the LDL-R in FH subjects in Québec (approximately 60% of FH subjects). No mRNA is produced from the allele bearing the mutation, and cellular cholesterol obtained by receptor-mediated endocytosis is under the control of the non-deletion allele. We have previously reported that some patients with the 10-kb deletion (approximately 9%) fail to respond to the hydroxymethylglutaryl coenzyme A reductase (HMG CoA reductase) inhibitor class of medications. We studied mRNA levels of the LDL-R and HMG CoA reductase genes in response to the HMG CoA reductase inhibitor lovastatin in a time- and dose-dependent fashion in cultured human skin fibroblasts and we devised an in vitro model to study the response to drug therapy in subjects with FH. We determined mRNA levels by RNase protection assay in skin fibroblasts obtained from controls (n = 3) and FH subjects with the > 10-kb deletion (responders, n = 3; non responders, n = 3; to drug therapy). We measured 125I-LDL binding on skin fibroblasts grown in the presence of lipoprotein-deficient serum with or without 1 microM lovastatin, using 10 micrograms/mL of 125I-LDL protein. Control subjects exhibited coordinate regulation of the LDL-R and HMG CoA reductase genes in response to lovastatin, 0.1-25 microM, for 0-24 h. Correlation coefficients between mRNA levels of both genes were > 0.9 in controls and FH subjects. However, by linear regression analysis, the corresponding slopes for the correlation between both genes were 0.98 (controls), 3.36 and 3.63 (FH responders and non-responders), indicating a pattern of dissociated but still coordinate regulation in FH subjects. The magnitude of increase of mRNA levels of the LDL-R gene was approximately five-fold over LPDS in controls, two-fold in FH responders and two-fold in non-responders. Binding studies using 125I-LDL reveal that a control subject and all responders had a 2-2.5-fold increase in binding to cell surface receptors but two out of three FH non-responders showed no increase in binding in response to 1 microM lovastatin. The LDL-R and HMG CoA reductase genes are expressed in coordinate regulation in fibroblasts from subjects with FH due to the > 10-kb deletion, but with a proportionately greater up-regulation of the HMG CoA reductase gene. Some subjects, with FH caused by the > 10-kb deletion of the LDL-R gene, who fail to respond to HMG CoA reductase inhibitors have abnormal LDL receptor binding activity at the cell surface in response to lovastatin in vitro.
PubMed ID
8800498 View in PubMed
Less detail

Age dependence of tumor genetics in unfavorable neuroblastoma: arrayCGH profiles of 34 consecutive cases, using a Swedish 25-year neuroblastoma cohort for validation.

https://arctichealth.org/en/permalink/ahliterature114056
Source
BMC Cancer. 2013;13:231
Publication Type
Article
Date
2013
Author
Cihan Cetinkaya
Tommy Martinsson
Johanna Sandgren
Catarina Träger
Per Kogner
Jan Dumanski
Teresita Díaz de Ståhl
Fredrik Hedborg
Author Affiliation
Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala SE-751 85, Sweden.
Source
BMC Cancer. 2013;13:231
Date
2013
Language
English
Publication Type
Article
Keywords
Adolescent
Age Factors
Base Sequence
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 12 - genetics
DNA Copy Number Variations
Gene Amplification
Gene Expression Profiling
Humans
Infant
Neuroblastoma - genetics
Nuclear Proteins - genetics
Oligonucleotide Array Sequence Analysis
Oncogene Proteins - genetics
Registries
Sequence Deletion
Sweden
Abstract
Aggressive neuroblastoma remains a significant cause of childhood cancer death despite current intensive multimodal treatment protocols. The purpose of the present work was to characterize the genetic and clinical diversity of such tumors by high resolution arrayCGH profiling.
Based on a 32K BAC whole-genome tiling path array and using 50-250K Affymetrix SNP array platforms for verification, DNA copy number profiles were generated for 34 consecutive high-risk or lethal outcome neuroblastomas. In addition, age and MYCN amplification (MNA) status were retrieved for 112 unfavorable neuroblastomas of the Swedish Childhood Cancer Registry, representing a 25-year neuroblastoma cohort of Sweden, here used for validation of the findings. Statistical tests used were: Fisher's exact test, Bayes moderated t-test, independent samples t-test, and correlation analysis.
MNA or segmental 11q loss (11q-) was found in 28/34 tumors. With two exceptions, these aberrations were mutually exclusive. Children with MNA tumors were diagnosed at significantly younger ages than those with 11q- tumors (mean: 27.4 vs. 69.5 months; p=0.008; n=14/12), and MNA tumors had significantly fewer segmental chromosomal aberrations (mean: 5.5 vs. 12.0; p
Notes
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PubMed ID
23656755 View in PubMed
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AGT M235T and ACE ID polymorphisms and exercise blood pressure in the HERITAGE Family Study.

https://arctichealth.org/en/permalink/ahliterature197889
Source
Am J Physiol Heart Circ Physiol. 2000 Jul;279(1):H368-74
Publication Type
Article
Date
Jul-2000
Author
T. Rankinen
J. Gagnon
L. Pérusse
Y C Chagnon
T. Rice
A S Leon
J S Skinner
J H Wilmore
D C Rao
C. Bouchard
Author Affiliation
Pennington Biomedical Research Center, Human Genomics Laboratory, Baton Rouge, Louisiana 70808, USA.
Source
Am J Physiol Heart Circ Physiol. 2000 Jul;279(1):H368-74
Date
Jul-2000
Language
English
Publication Type
Article
Keywords
Adult
Amino Acid Substitution
Angiotensinogen - genetics
Blood Pressure - genetics - physiology
Canada
Cohort Studies
DNA Transposable Elements
Diastole
European Continental Ancestry Group
Exercise - physiology
Female
Genotype
Humans
Male
Oxygen consumption
Peptidyl-Dipeptidase A - genetics
Physical Exertion - physiology
Polymorphism, Genetic
Sequence Deletion
Sex Characteristics
Systole
United States
Abstract
We investigated the association between angiotensinogen (AGT) and angiotensin-converting enzyme (ACE) gene polymorphisms and exercise training responses of resting and exercise blood pressure (BP). BP at rest and during submaximal (50 watts) and maximal exercise tests was measured before and after 20 wk of endurance training in 476 sedentary normotensive Caucasian subjects from 99 families. AGT M235T and ACE insertion/deletion polymorphisms were typed with PCR-based methods. Men carrying the AGT MM and MT genotypes showed 3. 7 +/- 0.6 and 3.2 +/- 0.5 (SE) mmHg reductions, respectively, in diastolic BP at 50 watts (DBP(50)), whereas, in the TT homozygotes, the decrease was 0.4 +/- 1.0 mmHg (P = 0.016 for trend, adjusted for age, body mass index, and baseline DBP(50)). Men with the ACE DD genotype showed a slightly greater decrease in DBP(50) (4.4 +/- 0.6 mmHg) than the II and ID genotypes (2.8 +/- 0.7 and 2.4 +/- 0.5 mmHg, respectively, P = 0.050). Furthermore, a significant (P = 0.022) interaction effect between the AGT and ACE genes was noted for DBP(50); the AGT TT homozygotes carrying the ACE D allele showed no response to training. Men with the AGT TT genotype had greater (P = 0.007) diastolic BP (DBP) response to acute maximal exercise at baseline. However, the difference disappeared after the training period. No associations were found in women. These data suggest that, in men, the genetic variation in the AGT locus modifies the responsiveness of submaximal exercise DBP to endurance training, and interactions between the AGT and ACE loci can alter this response.
PubMed ID
10899077 View in PubMed
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Alternative splicing of interleukin-6 mRNA in mice.

https://arctichealth.org/en/permalink/ahliterature63300
Source
Bull Exp Biol Med. 2004 Jul;138(1):73-6
Publication Type
Article
Date
Jul-2004
Author
O P Yatsenko
M L Filipenko
E A Khrapov
E N Voronina
S V Sennikov
V A Kozlov
Author Affiliation
Laboratory for Regulation of Immunopoiesis, Institute of Clinical Immunology, Siberian Division of the Russian Academy of Medical Sciences.
Source
Bull Exp Biol Med. 2004 Jul;138(1):73-6
Date
Jul-2004
Language
English
Publication Type
Article
Keywords
Alternative Splicing
Amino Acid Sequence
Animals
Binding Sites
Crosses, Genetic
Erythrocytes - immunology
Exons
Female
Interleukin-6 - chemistry - genetics
Mice
Mice, Inbred C57BL
Mice, Inbred CBA
Molecular Sequence Data
Placenta - metabolism
Pregnancy
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Protein Biosynthesis
Protein Isoforms - chemistry
Protein Structure, Secondary
RNA, Messenger - metabolism
Sequence Deletion
Sequence Homology, Amino Acid
Sheep
Spleen - metabolism
Abstract
Expression of mRNA for interleukin-6, interleukin-6Delta3, and interleukin-6Delta5 was detected in placental tissue (second and third trimesters of pregnancy) and spleen of mice immunized with sheep erythrocytes in high dose. We hypothesize that translation of mRNA yields proteins capable of binding to individual subunits of the interleukin-6 receptor and possessing effector functions.
PubMed ID
15514729 View in PubMed
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An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries.

https://arctichealth.org/en/permalink/ahliterature205593
Source
Ann Genet. 1998;41(1):31-3
Publication Type
Article
Date
1998
Author
J. Feingold
M. Guilloud-Bataille
D. De Crozes
Author Affiliation
Unité de Recherches d'Epidémiologie Génétique, INSERM Unité 155, Université Paris 7, France.
Source
Ann Genet. 1998;41(1):31-3
Date
1998
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Alleles
Canada - epidemiology
Child
Child, Preschool
Cystic Fibrosis - epidemiology - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Female
France - epidemiology
Gene Frequency
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation
Registries - statistics & numerical data
Sequence Deletion
United States - epidemiology
Abstract
Delta F508 mutation of the CFTR gene is the most frequent deleterious allele involved in cystic fibrosis (CF). We have studied the distribution of the three genotypes, delta F508/delta F508, delta F508/x, x/x, in the American, Canadian and French data registries concerning CF; "x" represents the non-delta F508 mutations. In the three registries the observed distribution of the three genotypes differs from the expected one, calculated according to the Hardy and Weinberg equilibrium. Three factors could explain this discrepancy: Wahlund's effect, misinterpretation of the molecular diagnosis, or an ascertainment bias in relation with the severity of the disease. This last factor is the most likely.
PubMed ID
9599649 View in PubMed
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177 records – page 1 of 18.