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175 records – page 1 of 18.

The 32-base pair deletion of the chemokine receptor 5 gene (CCR5-Delta32) is not associated with primary sclerosing cholangitis in 363 Scandinavian patients.

https://arctichealth.org/en/permalink/ahliterature168816
Source
Tissue Antigens. 2006 Jul;68(1):78-81
Publication Type
Article
Date
Jul-2006
Author
E. Melum
T H Karlsen
U. Broomé
E. Thorsby
E. Schrumpf
K M Boberg
B A Lie
Author Affiliation
Institute of Immunology, Rikshospitalet University Hospital, Sognsvannsyn 20, 0027 Oslo, Norway.
Source
Tissue Antigens. 2006 Jul;68(1):78-81
Date
Jul-2006
Language
English
Publication Type
Article
Keywords
Alleles
Base Pairing
Case-Control Studies
Cholangitis, Sclerosing - etiology
Confidence Intervals
Disease Progression
Female
Gene Deletion
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Odds Ratio
Receptors, CCR5 - genetics
Scandinavia - epidemiology
Abstract
CCR5 is a chemokine receptor expressed on T-cells and macrophages. A 32-base pair deletion in the chemokine receptor 5 gene (CCR5-Delta32) leads to a non-functional receptor. Conflicting evidence exists whether this deletion is associated with primary sclerosing cholangitis (PSC). We genotyped the CCR5-Delta32 variant in 363 PSC patients and 366 controls. No significant increase in the Delta32 allele frequency was detected in the PSC patients compared to controls (12.7% vs 10.7% OR = 1.22, 95% CI [0.88, 1.68], P = 0.23). Survival analysis did not reveal any significant effects from CCR5-Delta32 genotypes on disease progression. Thus, in this study (power > 90%, given OR = 2, alpha = 0.05), we were unable to replicate previous findings and our results do not support an involvement of CCR5-Delta32 in either PSC susceptibility or progression.
Notes
Erratum In: Tissue Antigens. 2006 Aug;68(2):192
PubMed ID
16774544 View in PubMed
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Adult-onset calorie restriction delays the accumulation of mitochondrial enzyme abnormalities in aging rat kidney tubular epithelial cells.

https://arctichealth.org/en/permalink/ahliterature78534
Source
Am J Physiol Renal Physiol. 2007 Jun;292(6):F1751-60
Publication Type
Article
Date
Jun-2007
Author
McKiernan Susan H
Tuen Victoria C
Baldwin Katherine
Wanagat Jonathan
Djamali Arjang
Aiken Judd M
Author Affiliation
Department of Animal Health and Biomedical Sciences, University of Wisconsin, Madison, WI 53706, USA. mckiernan@svm.vetmed.wisc.edu
Source
Am J Physiol Renal Physiol. 2007 Jun;292(6):F1751-60
Date
Jun-2007
Language
English
Publication Type
Article
Keywords
Aging - physiology
Animals
Body Weight - physiology
Caloric Restriction
DNA, Mitochondrial - genetics
Diet
Electron Transport Complex IV - metabolism
Epithelial Cells - enzymology
Gene Deletion
Kidney Tubules - cytology - enzymology
Lasers
Male
Mitochondria - enzymology
Organ Size - physiology
Rats
Rats, Inbred F344
Reverse Transcriptase Polymerase Chain Reaction
Succinate Dehydrogenase - metabolism
Abstract
Adult-onset calorie restriction (A-CR) is an experimental model of life extension and healthy aging less explored, compared with calorie restriction begun at early ages, but one more realistic for human application. We examined the effect of A-CR on the aging rat kidney with respect to common structural age-dependent changes and the accumulation of mitochondrial enzyme abnormalities in tubular epithelial cells. A 40% calorie restriction was initiated in middle-aged rats, before the onset of significant age-related changes in the Fischer x Brown Norway rat kidney. This dietary intervention effectively reduced glomerulosclerosis and tubular atrophy within 6 mo and changed the rate of interstitial fibrosis formation within 1 yr and vascular wall thickening and the expression cytochrome c oxidase (COX)-deficient tubular epithelial cells in 18 mo compared with age-matched ad libitum-fed rats. Our histological approach (histochemical staining for mitochondrial enzyme activity and laser capture microdissection) coupled with mitochondrial DNA (mtDNA) PCR analyses demonstrated that COX-deficient renal tubular epithelial cells accumulated mtDNA deletion mutations and that these cells contained unique, clonally expanded mtDNA deletion mutations. Renal tubular epithelial cells with mitochondrial abnormalities presented cellular characteristics indicative of physiological dysfunction.
PubMed ID
17344189 View in PubMed
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Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.

https://arctichealth.org/en/permalink/ahliterature145197
Source
Eur J Pediatr. 2010 Aug;169(8):983-9
Publication Type
Article
Date
Aug-2010
Author
Kari Lima
Ivar Følling
Kristin L Eiklid
Solveig Natvig
Tore G Abrahamsen
Author Affiliation
Department of Endocrinology, Division of Medicine, Akershus University Hospital, Sykehusveien 27, 1478 Lørenskog, Norway. kari.lima@medisin.uio.no
Source
Eur J Pediatr. 2010 Aug;169(8):983-9
Date
Aug-2010
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple
Adolescent
Adult
Age Factors
Child
Child, Preschool
Chromosomes, Human, Pair 22 - genetics
DiGeorge Syndrome - diagnosis - epidemiology - genetics - physiopathology - ultrasonography
Fluorescence
Gene Deletion
Genitalia - abnormalities
Humans
In Situ Hybridization
Infant
Infection - epidemiology
Kidney - abnormalities - ultrasonography
Learning Disorders - epidemiology
Male
Medical Records
Middle Aged
Norway - epidemiology
Phenotype
Young Adult
Abstract
Patients with the 22q11.2 deletion syndrome display a wide phenotypic variation that is important for clinical follow-up. In this national survey of 60 patients (ages 1 to 54 years) diagnosed by Fluorescence in situ hybridization test, data were collected from medical records, a physical examination, and a semistructured interview. Ultrasound investigation of the kidneys was also performed. In addition, multiplex ligation probe amplification assay was performed to detect deletion size. Phenotypic features leading to the genetic diagnosis were noted. The patients showed a variety of organ malformations including 39 with heart anomalies. Only 20 individuals had been diagnosed with 22q11.2 DS in the first year of life. Four patients had renal and five males had genital malformations. The increased infection susceptibility (excluding otitis media) and most feeding difficulties subsided during early childhood. Speech difficulties started early and were a major problem for many patients at least until 10 years of age. Ten patients developed kyphoscoliosis in late childhood. In teenagers and adults, abnormal social behavior, learning disabilities, and psychiatric symptoms dominated. Our study which also includes adult patients emphasizes a marked change in challenges in individuals with the 22q11.2 deletion syndrome with increasing age.
PubMed ID
20186429 View in PubMed
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[A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine]

https://arctichealth.org/en/permalink/ahliterature33908
Source
Tsitol Genet. 1997 Nov-Dec;31(6):75-81
Publication Type
Article
Author
A Iu Ekshiian
L A Livshits
A M Bychkova
N A Afanas'eva
I R Bariliak
Source
Tsitol Genet. 1997 Nov-Dec;31(6):75-81
Language
Russian
Publication Type
Article
Keywords
Adult
Child
Chimera - genetics
DNA - genetics - isolation & purification
DNA Primers
Electrophoresis, Agar Gel
English Abstract
Exons - genetics
Gene Deletion
Heterozygote
Homozygote
Humans
Molecular Biology
Polymerase Chain Reaction - methods
Research Support, Non-U.S. Gov't
Risk factors
Spinal Muscular Atrophies of Childhood - genetics
Ukraine
Abstract
The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.
PubMed ID
9591348 View in PubMed
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[Analysis of deletions in the dystrophin gene in patients with Duchenne muscular dystrophy in the Bashkir Republic].

https://arctichealth.org/en/permalink/ahliterature201376
Source
Genetika. 1999 Apr;35(4):551-5
Publication Type
Article
Date
Apr-1999
Author
O V Grinchuk
I M Khidiiatova
A V Kiselev
R V Magzhanov
E K Khusnutdinova
Author Affiliation
Department of Biochemistry and Cytochemistry, Ufa Research Center, Russian Academy of Sciences, Russia.
Source
Genetika. 1999 Apr;35(4):551-5
Date
Apr-1999
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Bashkiria
Child
Child, Preschool
Dystrophin - genetics
Exons
Female
Gene Deletion
Heterozygote Detection
Humans
Muscular Dystrophies - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Prenatal Diagnosis
Abstract
The deletion spectrum and distribution of deletion breakpoints (DBs) in 36 patients with Duchenne muscular dystrophy (DMD) from 33 families and in three patients with Becker muscular dystrophy (BMD) from one family from Bashkortostan were studied by amplifying 20 exons of the dystrophin gene by multiplex polymerase chain reaction (mPCR). Eight out of 34 unrelated DMD (BMD) patients (23.2%) were shown to carry a deletion varying in size from one to seven exons. Most DBs (15 out of 16, 93.7%) were in the distal region of the gene, commonly between exons 44-45, 45-47, and 50-52. Thus, high-polymorphic intergenic markers located in introns 44 (STR 44), 45 (STR 45), 49 (STR 49), and 50 (STR 50) can be used for indirect or direct carrier detection among women closely related to DMD patients that carry a deletion with DB located between exons 44-45, 45-47, and 50-52. Prenatal diagnosis of DMD is also possible in these families.
PubMed ID
10420280 View in PubMed
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[Analysis of mutations in ATP7B gene and experience with direct DNA-diagnosis in hepato-lenticular degeneration].

https://arctichealth.org/en/permalink/ahliterature193806
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2001;101(4):44-7
Publication Type
Article
Date
2001
Author
A V Karabanov
I V Ovchinnikov
S N Illarioshkin
V V Poleshchuk
P A Slominskii
E D Markova
O Iu Rebrova
S A Limborskaia
I A Ivanova-Smolenskaia
Source
Zh Nevrol Psikhiatr Im S S Korsakova. 2001;101(4):44-7
Date
2001
Language
Russian
Publication Type
Article
Keywords
Adenosine Triphosphatases - genetics
Catchment Area (Health)
DNA Mutational Analysis
Exons - genetics
Gene Deletion
Hepatolenticular Degeneration - epidemiology - genetics
Humans
Point Mutation - genetics
Polymerase Chain Reaction
Russia - epidemiology
Abstract
Hepatolenticular degeneration (HLD) is a severe autosomal-recessive disorder of the copper metabolism. It is characterized by excessive accumulation of copper in the brain and in viscera and is conditioned by the damage in the gene of copper ATP-ase (ATP7B). The paper presents the results of screening of ATP7B gene mutation in 42 patients with HLD from Russian population. The regions of ATP7B gene that are the most frequently exposed to the mutation have been studied (the exzones 14, 15, 16, 18). It is demonstrated that A-->C mutation in the 14-th exzone that led to the change of histidine1069 amino acid for glutamine, was found in more than 60% of patients--Slavs from the European Russia. This mutation was observed in both homo- and heterozygous states. The deletion of (CCC-->CC) nucleotide in the 15-th exzone of the gene was observed in 2 cases. The detailed analysis of the clinical-genetic correlations was performed in patients with the determined damages of ATP7B gene. In Russia the experience of the direct DNA-diagnosis of HLD is described for the first time. It is significant for early evaluation of the patients in preclinical state and for prescription of the preventive copper-eliminating therapy.
PubMed ID
11490435 View in PubMed
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Analysis of the fragile histidine triad (FHIT) gene in lobular breast cancer.

https://arctichealth.org/en/permalink/ahliterature20310
Source
Eur J Cancer. 2000 Aug;36(12):1552-7
Publication Type
Article
Date
Aug-2000
Author
C. Huiping
J G Jonasson
B A Agnarsson
B I Sigbjornsdottir
K. Huebner
S. Ingvarsson
Author Affiliation
Department of Pathology, University of Iceland, PO Box, 1465, IS-121, Reykjavik, Iceland.
Source
Eur J Cancer. 2000 Aug;36(12):1552-7
Date
Aug-2000
Language
English
Publication Type
Article
Keywords
Acid Anhydride Hydrolases
BRCA2 Protein
Breast Neoplasms - genetics
Carcinoma, Ductal, Breast - genetics
Carcinoma, Lobular - genetics
Female
Gene Deletion
Humans
Immunohistochemistry
Loss of Heterozygosity - genetics
Microsatellite Repeats
Neoplasm Proteins - genetics
Proteins - genetics
Research Support, Non-U.S. Gov't
Transcription Factors - genetics
Abstract
The fragile histidine triad (FHIT) gene is a candidate tumour suppressor gene in breast and other cancers. We investigated deletions within the FHIT gene in lobular breast cancer and found that 16% of cases showed loss of heterozygosity (LOH) within the gene. We compared LOH within FHIT in lobular and ductal breast tumours and found a significant association between LOH at FHIT and the ductal histological type (P
PubMed ID
10930803 View in PubMed
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[An analysis of chimeric SMN genes--new possibilities in the study of the molecular genetic nature of mutations and in the diagnosis of spinal muscular atrophy (SMA)]

https://arctichealth.org/en/permalink/ahliterature33178
Source
Tsitol Genet. 1999 May-Jun;33(3):21-6
Publication Type
Article
Author
A Iu Ekshiian
L A Livshits
Source
Tsitol Genet. 1999 May-Jun;33(3):21-6
Language
Russian
Publication Type
Article
Keywords
Base Sequence
Child
DNA - genetics
DNA Primers
English Abstract
Exons - genetics
Gene Deletion
Homozygote
Humans
Molecular Biology
Molecular Sequence Data
Motor Neurons - physiology
Mutation - genetics
Nerve Tissue Proteins - genetics
Polymerase Chain Reaction - methods
Recombinant Fusion Proteins - genetics
Research Support, Non-U.S. Gov't
Risk factors
Spinal Muscular Atrophies of Childhood - diagnosis - genetics
Ukraine
Abstract
Results of analysis of chimeric SMN genes among some high SMA-risk families from Ukraine using the EcoRV and DdeI restriction enzyme hydrolysis of PCR products is presented. Chimeric cen/telSMN gene was detected in probands with homozygous deletions of telSMN exon 7 only, as well in proband with absent of homozygous deletion of exons 7 and/or 8 of the SMN gene. Effectivity of approach of detection of chimeric SMN genes based on the EcoRV and DdeI restriction enzyme analysis of PCR products and mechanisms of formation of chimeric SMN genes are discussed.
PubMed ID
10474859 View in PubMed
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[An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis]

https://arctichealth.org/en/permalink/ahliterature36204
Source
Tsitol Genet. 1993 Jul-Aug;27(4):72-7
Publication Type
Article
Author
S A Kravchenko
L A Livshits
Source
Tsitol Genet. 1993 Jul-Aug;27(4):72-7
Language
Russian
Publication Type
Article
Keywords
Adult
Alleles
Child
Cystic Fibrosis - epidemiology - genetics
DNA - genetics
English Abstract
Exons - genetics
Gene Deletion
Heterozygote Detection
Humans
Introns - genetics
Mutation - genetics
Oligonucleotide Probes
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Repetitive Sequences, Nucleic Acid - genetics
Risk factors
Ukraine - epidemiology
Abstract
Mutations in the CFTR gene have been screened in 110 families from Ukraine with high risk of cystic fibrosis. Deletion F508 was found in 121 (55%) of 220 CF alleles. Among the rest mutant alleles (with the absence of delta F508) six other mutations occurring in the 7th, 10th, 11th exons of the CFTR gene were screened. In this way, 5 CF alleles may be characterized: 1 allele with R334W (the 7th exon) 1 with 1677 delTa (the 10th exon), 1 allele with G551D and 2 alleles with R553X (the 11th exon). We have screened 865 healthy donors for F508 from different regions of Ukraine. The frequency of heterozygous carriers in different regions ranged from 1:28 to 1:170. Strong linkage imbalance was found between polymorphic markers of 4 bp tandem repeats from the 3'-end of the sixth intron in the CFTR gene and deletion F508.
PubMed ID
8249168 View in PubMed
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175 records – page 1 of 18.