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17beta-hydroxysteroid dehydrogenase type 1 is an independent prognostic marker in breast cancer.

https://arctichealth.org/en/permalink/ahliterature17431
Source
Cancer Res. 2004 Oct 15;64(20):7604-9
Publication Type
Article
Date
Oct-15-2004
Author
Olayiwola O Oduwole
Yan Li
Veli V Isomaa
Anne Mäntyniemi
Anitta E Pulkka
Ylermi Soini
Pirkko T Vihko
Author Affiliation
Biocenter Oulu and Research Center for Molecular Endocrinology, WHO Collaborating Centre for Research on Reproductive Health, Oulu, Finland.
Source
Cancer Res. 2004 Oct 15;64(20):7604-9
Date
Oct-15-2004
Language
English
Publication Type
Article
Keywords
17-Hydroxysteroid Dehydrogenases - biosynthesis - genetics
Breast Neoplasms - enzymology - genetics - metabolism - pathology
Estrogen Receptor alpha - biosynthesis - genetics
Estrogen Receptor beta - biosynthesis - genetics
Female
Humans
Immunohistochemistry
In Situ Hybridization
Isoenzymes
Ki-67 Antigen - biosynthesis - genetics
Middle Aged
Neoplasm Staging
Paraffin Embedding
Prognosis
RNA, Messenger - biosynthesis - genetics
Receptor, erbB-2 - biosynthesis - genetics
Research Support, Non-U.S. Gov't
Tumor Markers, Biological - biosynthesis - genetics
Abstract
Estrogens have an important role in the development and progression of breast cancer. 17beta-Hydroxysteroid dehydrogenase type 1 (17HSD1), type 2 (17HSD2), and type 5 (17HSD5) are associated with sex steroid metabolism in normal and cancerous breast tissue. The mRNA expressions of the 17HSD1, 17HSD2, and 17HSD5 enzymes were analyzed in 794 breast carcinoma specimens by using tissue microarrays and normal histologic sections. The results were correlated with the estrogen receptor alpha (ER-alpha) and beta (ER-beta), progesterone receptor, Ki67, and c-erbB-2 expressions analyzed by immunohistochemical techniques and with the Tumor-Node-Metastasis classification, tumor grade, disease-free interval, and survival of the patients. Signals for 17HSD1 mRNA were detected in 16%, 17HSD2 in 25%, and 17HSD5 in 65% of the breast cancer specimens. No association between the 17HSD1, 17HSD2, and 17HSD5 expressions was detected. A significant association was observed between ER-alpha and ER-beta (P = 0.02; odds ratio, 1.96) expressions. There was also a significant inverse association between ER-alpha and 17HSD1 (P = 0.04; odds ratio, 0.53), as well as ER-alpha and 17HSD5 (P = 0.001; odds ratio, 0.35). Patients with tumors expressing 17HSD1 mRNA or protein had significantly shorter overall and disease-free survival than the other patients (P = 0.0010 and 0.0134, log rank). The expression of 17HSD5 was significantly higher in breast tumor specimens than in normal tissue (P = 0.033; odds ratio, 5.56). The group with 17HSD5 overexpression had a worse prognosis than the other patients (P = 0.0146). ER-alpha also associated with survival (P = 0.045). Cox multivariate analyses showed that 17HSD1 mRNA, tumor size, and ER-alpha had independent prognostic significance.
PubMed ID
15492288 View in PubMed
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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

https://arctichealth.org/en/permalink/ahliterature146325
Source
Eur J Med Genet. 2010 Mar-Apr;53(2):61-5
Publication Type
Article
Author
Johanna Lundin
Cilla Söderhäll
Lina Lundén
Anna Hammarsjö
Iréne White
Jacqueline Schoumans
Göran Läckgren
Christina Clementson Kockum
Agneta Nordenskjöld
Author Affiliation
Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.
Source
Eur J Med Genet. 2010 Mar-Apr;53(2):61-5
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Bladder Exstrophy - genetics
Chromosomes - ultrastructure
Chromosomes, Human, Pair 22
Comparative Genomic Hybridization
Female
Gene Duplication
Hearing Loss - genetics
Humans
In Situ Hybridization, Fluorescence
Male
Molecular Probe Techniques
Phenotype
Sweden
Syndrome
Abstract
Bladder exstrophy is a congenital malformation of the bladder and urethra. The genetic basis of this malformation is unknown however it is well known that chromosomal aberrations can lead to defects in organ development. A few bladder exstrophy patients have been described to carry chromosomal aberrations. Chromosomal rearrangements of 22q11.2 are implicated in several genomic disorders i.e. DiGeorge/velocardiofacial- and cat-eye syndrome. Deletions within this chromosomal region are relatively common while duplications of 22q11.2 are much less frequently observed. An increasing number of reports of microduplications of this region describe a highly variable phenotype. We have performed array-CGH analysis of 36 Swedish bladder exstrophy patients. The analysis revealed a similar and approximately 3 Mb duplication, consistent with the recently described 22q11.2 microduplication syndrome, in two unrelated cases with bladder exstrophy and hearing impairment. This finding was confirmed by multiplex ligation-dependent probe amplification (MLPA) and FISH analysis. Subsequent MLPA analysis of this chromosomal region in 33 bladder exstrophy patients did not reveal any deletion/duplication within this region. MLPA analysis of 171 anonymous control individuals revealed one individual carrying this microduplication. This is the first report of 22q11.2 microduplication associated with bladder exstrophy and hearing impairment. Furthermore the finding of one carrier among a cohort of normal controls further highlights the variable phenotype linked to this microduplication syndrome.
PubMed ID
20045748 View in PubMed
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72 KD and 92 KD type IV collagenase, type IV collagen, and laminin mRNAs in breast cancer: a study by in situ hybridization.

https://arctichealth.org/en/permalink/ahliterature23611
Source
J Histochem Cytochem. 1994 Jul;42(7):945-51
Publication Type
Article
Date
Jul-1994
Author
Y. Soini
T. Hurskainen
M. Höyhtyä
A. Oikarinen
H. Autio-Harmainen
Author Affiliation
Department of Pathology, University of Oulu, Finland.
Source
J Histochem Cytochem. 1994 Jul;42(7):945-51
Date
Jul-1994
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Breast Neoplasms - chemistry - enzymology
Collagen - analysis
Collagenases - analysis
Female
Gelatinase B
Humans
Immunoenzyme Techniques
In Situ Hybridization
Laminin - analysis
Middle Aged
RNA Probes
RNA, Messenger - analysis
Research Support, Non-U.S. Gov't
Abstract
It is widely accepted that basement membrane (BM) components are synthesized by epithelial cells and that production of BM-degrading proteases by cancer cells is necessary for invasive growth. In this study we used nucleic acid in situ hybridization (ISH) to investigate the presence of mRNAs for 72 KD and 92 KD Type IV collagenase, alpha 1 (IV) chain of Type IV collagen, and laminin B1 chain in 20 breast carcinomas of various histological types. The mRNA signals for 72 KD Type IV collagenase, Type IV collagen, and laminin were much more abundant in stromal fibroblasts and endothelial cells than in carcinoma cells. The signal for 92 KD Type IV collagenase mRNA was strong in carcinoma cells and considerably weaker in stromal fibroblasts and endothelial cells. Labeling for 72 KD and 92 KD Type IV collagenase mRNA was also found in benign fibroadenomas and for 92 KD Type IV collagenase in non-neoplastic ducts and acini. The results indicate that stromal cells have a more important role in the synthesis and degradation of BMs in breast carcinomas than previously thought and that production of these enzymes is not restricted to malignancy.
PubMed ID
8014478 View in PubMed
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Aberrant expression of the human epidermal growth factor receptor 2 oncogene is not a common feature in osteosarcoma.

https://arctichealth.org/en/permalink/ahliterature101871
Source
Hum Pathol. 2011 Jun;42(6):859-66
Publication Type
Article
Date
Jun-2011
Author
Daniel Baumhoer
Jan Smida
Katja Specht
Karin Bink
Leticia Quintanilla-Martinez
Michael Rosemann
Heide Siggelkow
Walter B J Nathrath
Michael J Atkinson
Stefan Bielack
Gernot Jundt
Michaela Nathrath
Author Affiliation
Institute of Pathology, University Hospital Basel, 4031 Basel, Switzerland. dbaumhoer@mac.com
Source
Hum Pathol. 2011 Jun;42(6):859-66
Date
Jun-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Bone Neoplasms - genetics - metabolism - pathology
Child
Child, Preschool
DNA, Neoplasm - analysis
Female
Gene Expression Regulation, Neoplastic - physiology
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Male
Middle Aged
Oligonucleotide Array Sequence Analysis
Osteosarcoma - genetics - metabolism - pathology
Polymorphism, Single Nucleotide
Prognosis
RNA, Messenger - metabolism
Receptor, erbB-2 - genetics - metabolism
Reverse Transcriptase Polymerase Chain Reaction
Tumor Markers, Biological - genetics - metabolism
Young Adult
Abstract
Human epidermal growth factor receptor 2 expression in osteosarcoma and its relationship to prognosis have been the subject of several conflicting reports, most of them relying on immunohistochemical studies. Because the urgent need of prognostic markers and effective new treatment options for osteosarcoma patients, we evaluated the role of human epidermal growth factor receptor 2 in 2 well-characterized sets of pretherapeutic osteosarcoma samples (46 paraffin-embedded and 46 fresh-frozen biopsy samples) using immunohistochemistry with 2 different antibodies [DAKO A0485 (Glostrup, Denmark) and Novocastra CB11 (Newcastle, UK)] as well as fluorescence in situ hybridization, real-time polymerase chain reaction, and SNP array analyses and correlated our findings with clinicopathological parameters. However, our study failed to detect unequivocal evidence of human epidermal growth factor receptor 2 gene amplification or overexpression of human epidermal growth factor receptor 2 messenger RNA or protein in any of the investigated tumors. Only in a small subset of samples, a moderate increase in messenger RNA levels (13.6%) or focal membranous immunoreactivity (8.7%; A0485) was detected but did not correlate with survival or response to chemotherapy. Cytoplasmic staining was identified more frequently (63%; CB11) but again did not show any association with clinicopathological parameters. In conclusion, our study does not support a role for human epidermal growth factor receptor 2 as a prognostic marker in osteosarcoma.
PubMed ID
21292304 View in PubMed
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Aberrant type I and type III collagen gene expression in human breast cancer in vivo.

https://arctichealth.org/en/permalink/ahliterature21082
Source
J Pathol. 1998 Nov;186(3):262-8
Publication Type
Article
Date
Nov-1998
Author
S. Kauppila
F. Stenbäck
J. Risteli
A. Jukkola
L. Risteli
Author Affiliation
Department of Medical Biochemistry, University of Oulu, Finland.
Source
J Pathol. 1998 Nov;186(3):262-8
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
Breast - chemistry
Breast Neoplasms - metabolism - pathology
Carcinoma, Ductal, Breast - metabolism - pathology
Female
Fibroadenoma - metabolism - pathology
Humans
Immunohistochemistry
In Situ Hybridization
Mucins - genetics
Peptide Fragments - genetics
Procollagen - genetics
RNA, Messenger - analysis
Research Support, Non-U.S. Gov't
Tumor Markers, Biological - analysis
Abstract
Increased synthesis and degradation of extracellular matrix components are associated with breast cancer development. This study evaluated type I and type III procollagen mRNA expression and the corresponding protein synthesis and maturation, as well as the tissue distribution of these collagens, in benign breast lesions, infiltrating ductal carcinomas, and their metastases by in situ hybridization and immunohistochemistry. In the benign lesions, the type I and type III collagen bundles were regularly organized and the expression of the corresponding mRNA was weak, indicating a relatively slow collagen turnover. In the malignant tumours, increased expression of type I and type III procollagen mRNAs was observed in the fibroblastic cells of the stroma; the malignant epithelial cells did not participate. The staining of corresponding newly-synthesized pN-collagens showed aberrant bundles in the invasive front of the malignant tumours. Newly-synthesized type I and type III procollagens were occasionally observed in fibroblastic cells, particularly in grade 2 and grade 3 tumours. Metastases of breast carcinoma resembled poorly differentiated primary tumours with respect to their collagen synthesis and deposition. The increased synthesis of fibrillar type I and type III procollagens may serve as a pathway for tumour invasion. The enhanced synthesis is associated with the formation of aberrant collagen bundles, which may be more readily degradable and may thus facilitate breast tumour invasion.
PubMed ID
10211114 View in PubMed
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[Abundance and diversity of methanotrophic Gammaproteobacteria in northern wetlands].

https://arctichealth.org/en/permalink/ahliterature259581
Source
Mikrobiologiia. 2014 Mar-Apr;83(2):204-14
Publication Type
Article
Author
O V Danilova
S N Dedysh
Source
Mikrobiologiia. 2014 Mar-Apr;83(2):204-14
Language
Russian
Publication Type
Article
Keywords
Biodiversity
Fresh Water - microbiology
Gammaproteobacteria - genetics - isolation & purification - metabolism
Hydrogen-Ion Concentration
In Situ Hybridization, Fluorescence
Methane - metabolism
Methylococcaceae - genetics
Methylocystaceae - genetics
Molecular Sequence Data
Oxygenases - genetics
Phylogeny
RNA, Ribosomal, 16S
Russia
Wetlands
Abstract
Numeric abundance, identity and pH preferences of methanotrophic Gammaproteobacteria (type I methanotrophs) inhabiting the northern acidic wetlands were studied. The rates of methane oxidation by peat samples from six-wetlands of European Northern Russia (pH 3.9-4.7) varied from 0.04 to 0.60 µg CH4 g(-1) peat h(-1). The number of cells revealed by hybridization with fluorochrome-labeled probes M84 + M705 specific for type I methanotrophs was 0.05-2.16 x 10(5) cells g(-1) dry peat, i.e. 0.4-12.5% of the total number of methanotrophs and 0.004-0.39% of the total number of bacteria. Analysis of the fragments of the pmoA gene encoding particulate methane monooxygenase revealed predominance of the genus Methylocystis (92% of the clones) in the studied sample of acidic peat, while the proportion of the pmoA sequences of type I methanotrophs was insignificant (8%). PCR amplification of the 16S rRNA gene fragments of type I methanotrophs with TypeIF-Type IR primers had low specificity, since only three sequences out of 53 analyzed belonged to methanotrophs and exhibited 93-99% similarity to those of Methylovulum, Methylomonas, and Methylobacter species. Isolates of type I methanotrophs obtained from peat (strains SH10 and 83A5) were identified as members of the species Methylomonaspaludis and Methylovulum miyakonense, respectively. Only Methylomonaspaludum SH10 was capable of growth in acidic media (pH range for growth 3.8-7.2 with the optimum at pH 5.8-6.2), while Methylovulum miyakonense 83A5 exhibited the typical growth characteristics of neutrophilic methanotrophs (pH range for growth 5.5-8.0 with the optimum at pH 6.5-7.5).
PubMed ID
25423724 View in PubMed
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Abundant Trimethylornithine Lipids and Specific Gene Sequences Are Indicative of Planctomycete Importance at the Oxic/Anoxic Interface in Sphagnum-Dominated Northern Wetlands.

https://arctichealth.org/en/permalink/ahliterature273730
Source
Appl Environ Microbiol. 2015 Sep;81(18):6333-44
Publication Type
Article
Date
Sep-2015
Author
Eli K Moore
Laura Villanueva
Ellen C Hopmans
W Irene C Rijpstra
Anchelique Mets
Svetlana N Dedysh
Jaap S Sinninghe Damsté
Source
Appl Environ Microbiol. 2015 Sep;81(18):6333-44
Date
Sep-2015
Language
English
Publication Type
Article
Keywords
Acidobacteria - chemistry - isolation & purification
Bacteria - chemistry - genetics - isolation & purification
High-Throughput Nucleotide Sequencing
In Situ Hybridization, Fluorescence
Lipids - analysis - chemistry
Oxidation-Reduction
Phylogeny
RNA, Bacterial - genetics
RNA, Ribosomal, 16S - genetics
Russia
Soil - chemistry
Soil Microbiology
Sphagnopsida - chemistry - genetics - microbiology
Sweden
Wetlands
Abstract
Northern wetlands make up a substantial terrestrial carbon sink and are often dominated by decay-resistant Sphagnum mosses. Recent studies have shown that planctomycetes appear to be involved in degradation of Sphagnum-derived debris. Novel trimethylornithine (TMO) lipids have recently been characterized as abundant lipids in various Sphagnum wetland planctomycete isolates, but their occurrence in the environment has not yet been confirmed. We applied a combined intact polar lipid (IPL) and molecular analysis of peat cores collected from two northern wetlands (Saxnäs Mosse [Sweden] and Obukhovskoye [Russia]) in order to investigate the preferred niche and abundance of TMO-producing planctomycetes. TMOs were present throughout the profiles of Sphagnum bogs, but their concentration peaked at the oxic/anoxic interface, which coincided with a maximum abundance of planctomycete-specific 16S rRNA gene sequences. The sequences detected at the oxic/anoxic interface were affiliated with the Isosphaera group, while sequences present in the anoxic peat layers were related to an uncultured planctomycete group. Pyrosequencing-based analysis identified Planctomycetes as the major bacterial group at the oxic/anoxic interface at the Obukhovskoye peat (54% of total 16S rRNA gene sequence reads), followed by Acidobacteria (19% reads), while in the Saxnäs Mosse peat, Acidobacteria were dominant (46%), and Planctomycetes contributed to 6% of the total reads. The detection of abundant TMO lipids in planctomycetes isolated from peat bogs and the lack of TMO production by cultures of acidobacteria suggest that planctomycetes are the producers of TMOs in peat bogs. The higher accumulation of TMOs at the oxic/anoxic interface and the change in the planctomycete community with depth suggest that these IPLs could be synthesized as a response to changing redox conditions at the oxic/anoxic interface.
Notes
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PubMed ID
26150465 View in PubMed
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Acquired macrolide resistance genes in pathogenic Neisseria spp. isolated between 1940 and 1987.

https://arctichealth.org/en/permalink/ahliterature182672
Source
Antimicrob Agents Chemother. 2003 Dec;47(12):3877-80
Publication Type
Article
Date
Dec-2003
Author
Sydney Cousin
William L H Whittington
Marilyn C Roberts
Author Affiliation
Department of Pathobiology, University of Washington, Seattle, Washington 98195, USA.
Source
Antimicrob Agents Chemother. 2003 Dec;47(12):3877-80
Date
Dec-2003
Language
English
Publication Type
Article
Keywords
Anti-Bacterial Agents - pharmacology
Conjugation, Genetic
Denmark - epidemiology
Drug Resistance, Bacterial
Genes, Bacterial - genetics
Genotype
Gonorrhea - epidemiology - microbiology
Humans
In Situ Hybridization
Meningococcal Infections - epidemiology - microbiology
Methyltransferases - genetics
Neisseria gonorrhoeae - drug effects - genetics
Neisseria meningitidis - drug effects - genetics
Promoter Regions, Genetic - genetics
Reverse Transcriptase Polymerase Chain Reaction
Time Factors
Abstract
Seventy-six Neisseria gonorrhoeae isolates, isolated between 1940 and 1987, and seven Neisseria meningitidis isolates, isolated between 1963 and 1987, were screened for the presence of acquired mef(A), erm(B), erm(C), and erm(F) genes by using DNA-DNA hybridization, PCR analysis, and sequencing. The mef(A), erm(B), and erm(F) genes were all identified in a 1955 N. gonorrhoeae isolate, while the erm(C) gene was identified in a 1963 N. gonorrhoeae isolate. Similarly, both the mef(A) and erm(F) genes were identified in a 1963 N. meningitidis isolate. All four acquired genes were found in later isolates of both species. The mef(A) gene from a 1975 N. gonorrhoeae isolate was sequenced and had 100% DNA and amino acid identity with the mef(A) gene from a 1990s Streptococcus pneumoniae isolate. Selected early isolates were able to transfer their acquired genes to an Enterococcus faecalis recipient, suggesting that these genes are associated with conjugative transposons. These isolates are the oldest of any species to carry the mef(A) gene and among the oldest to carry these erm genes.
Notes
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PubMed ID
14638497 View in PubMed
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Activation of Notch signaling in human colon adenocarcinoma.

https://arctichealth.org/en/permalink/ahliterature154123
Source
Int J Oncol. 2008 Dec;33(6):1223-9
Publication Type
Article
Date
Dec-2008
Author
Michael Reedijk
Silvia Odorcic
Hui Zhang
Runjan Chetty
Carsten Tennert
Brendan C Dickson
Gina Lockwood
Steven Gallinger
Sean E Egan
Author Affiliation
Program in Developmental Biology and Stem Cell Research, The Hospital for Sick Children, MaRS East Tower, Ontario M5G 1L7, Canada.
Source
Int J Oncol. 2008 Dec;33(6):1223-9
Date
Dec-2008
Language
English
Publication Type
Article
Keywords
Adenocarcinoma - genetics - mortality - pathology
Basic Helix-Loop-Helix Transcription Factors - genetics
Calcium-Binding Proteins - genetics
Cell Differentiation
Colonic Neoplasms - genetics - mortality - pathology
Gene Expression Regulation, Neoplastic
Germany
Glycosyltransferases - genetics
Homeodomain Proteins - genetics
Humans
In Situ Hybridization
Intercellular Signaling Peptides and Proteins - genetics
Kaplan-Meier Estimate
Membrane Proteins - genetics
Ontario
Prognosis
RNA, Messenger - analysis
Receptor, Notch1 - genetics
Receptors, Notch - genetics
Registries
Signal Transduction - genetics
Abstract
Notch and Wnt signaling function together to regulate colonic progenitor cell division and differentiation. Studies in mice have also shown that Notch signaling is required for adenoma formation in response to elevated Wnt-pathway signaling that occurs in the APCMin mouse model of human adenomatous polyposis coli. We therefore used in situ hybridization to analyze expression of Notch ligands, receptors and fringe genes, as well as the Notch target gene, HES1, in human colorectal cancer (CRC). In a small cohort of tumors, JAGGED ligands, NOTCH1, LFNG and HES1 were expressed at levels similar to, or higher than, levels observed in the crypt. To explore the possibility that Notch signaling may play a quantitative role in human CRC we next analyzed HES1 mRNA expression in 130 tumors, each associated with outcome data. The vast majority of these tumors expressed HES1, although at varying levels. Absolute expression levels did not correlate with patient survival. These results establish that JAG ligands and NOTCH1, as well as Notch receptor activation are consistent features of human CRC and support the notion that many of these tumors, like the APCMin mouse, may respond to anti-Notch therapeutic regimes.
Notes
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PubMed ID
19020755 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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