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Article: Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.

Ward, C P / Fensom, A H / Green, P M

2000 Volume 4, Issue 4, Page(s) 351–358

Abstract: We have developed rapid semiautomated fluorogenic TaqMan assays for the three common Jewish mutations that occur in Tay-Sachs disease, the TATC 4-bp insertion in exon 11 (1,278insTATC), the IVS 12 + 1G --> C, splice site mutation in intron 12 (1421 + 1 G ...

Abstract	We have developed rapid semiautomated fluorogenic TaqMan assays for the three common Jewish mutations that occur in Tay-Sachs disease, the TATC 4-bp insertion in exon 11 (1,278insTATC), the IVS 12 + 1G --> C, splice site mutation in intron 12 (1421 + 1 G --> C), and the G --> A change at the 3' end of exon 7 (G269S), as well as for a non-Jewish mutation, IVS9 + I G --> A, believed to be prevalent in patients of Celtic descent. The TaqMan assays are designed to run on the ABI SDS 7700 sequence detection system, using allele-specific probes that carry a reporter dye at the 5' end and a quencher dye at the 3' end. Using a 96-well format, all four assays can be performed simultaneously on the same plate, with real-time fluorescence detection or just an end-point plate read. DNA samples from 78 patients identified as carriers by biochemical screening and genotyped by conventional techniques were used to assess the accuracy and efficiency of the probes in allelic discrimination assays. There were no discrepancies noted between previously assigned genotypes and the results obtained by application of this methodology.
MeSH term(s)	Alleles ; DNA Mutational Analysis/methods ; DNA Primers ; DNA Probes ; Exons ; Fluorescent Dyes ; Genetic Testing/methods ; Genotype ; Humans ; Introns ; Jews/genetics ; Mutation/genetics ; Taq Polymerase/metabolism ; Tay-Sachs Disease/diagnosis ; Tay-Sachs Disease/ethnology ; Tay-Sachs Disease/genetics
Chemical Substances	DNA Primers ; DNA Probes ; Fluorescent Dyes ; Taq Polymerase (EC 2.7.7.-)
Language	English
Publishing date	2000
Publishing country	United States
Document type	Journal Article
ZDB-ID	1345729-9
ISSN	1557-7473 ; 1090-6576
ISSN (online)	1557-7473
ISSN	1090-6576
DOI	10.1089/109065700750065081
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Article ; Online: c-Fos protein expression is increased in cholinergic neurons of the rodent basal forebrain during spontaneous and induced wakefulness.

McKenna, J T / Cordeira, J W / Jeffrey, B A / Ward, C P / Winston, S / McCarley, R W / Strecker, R E

Brain research bulletin

2009 Volume 80, Issue 6, Page(s) 382–388

Abstract: It has been proposed that cholinergic neurons of the basal forebrain (BF) may play a role in vigilance state control. Since not all vigilance states have been studied, we evaluated cholinergic neuronal activation levels across spontaneously occurring ... ...

Abstract	It has been proposed that cholinergic neurons of the basal forebrain (BF) may play a role in vigilance state control. Since not all vigilance states have been studied, we evaluated cholinergic neuronal activation levels across spontaneously occurring states of vigilance, as well as during sleep deprivation and recovery sleep following sleep deprivation. Sleep deprivation was performed for 2h at the beginning of the light (inactive) period, by means of gentle sensory stimulation. In the rodent BF, we used immunohistochemical detection of the c-Fos protein as a marker for activation, combined with labeling for choline acetyl-transferase (ChAT) as a marker for cholinergic neurons. We found c-Fos activation in BF cholinergic neurons was highest in the group undergoing sleep deprivation (12.9% of cholinergic neurons), while the spontaneous wakefulness group showed a significant increase (9.2%), compared to labeling in the spontaneous sleep group (1.8%) and a sleep deprivation recovery group (0.8%). A subpopulation of cholinergic neurons expressed c-Fos during spontaneous wakefulness, when possible confounds of the sleep deprivation procedure were minimized (e.g., stress and sensory stimulation). Double-labeling in the sleep deprivation treatment group was significantly elevated in select subnuclei of the BF (medial septum/vertical limb of the diagonal band, horizontal limb of the diagonal band, and the magnocellular preoptic nucleus), when compared to spontaneous wakefulness. These findings support and provide additional confirming data of previous reports that cholinergic neurons of BF play a role in vigilance state regulation by promoting wakefulness.
MeSH term(s)	Animals ; Cell Count ; Choline O-Acetyltransferase/metabolism ; Immunohistochemistry ; Male ; Neurons/physiology ; Physical Stimulation ; Polysomnography ; Prosencephalon/physiology ; Proto-Oncogene Proteins c-fos/metabolism ; Rats ; Rats, Sprague-Dawley ; Sleep/physiology ; Sleep Deprivation/physiopathology ; Time Factors ; Up-Regulation ; Wakefulness/physiology
Chemical Substances	Proto-Oncogene Proteins c-fos ; Choline O-Acetyltransferase (EC 2.3.1.6)
Language	English
Publishing date	2009-08-28
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	197620-5
ISSN	1873-2747 ; 0361-9230
ISSN (online)	1873-2747
ISSN	0361-9230
DOI	10.1016/j.brainresbull.2009.08.015
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Article: Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

Steinberg, S J / Ward, C P / Fensom, A H

Journal of medical genetics

1994 Volume 31, Issue 4, Page(s) 317–320

Abstract: Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical ... ...

Abstract	Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group alpha) and one minor group (group beta) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently < 40% control levels confirmed the existence of the second group.
MeSH term(s)	Cells, Cultured ; Cholesterol/metabolism ; Fibroblasts/enzymology ; Fibroblasts/pathology ; Filipin ; Genetic Complementation Test ; Humans ; Hybrid Cells/enzymology ; Hybrid Cells/pathology ; Infant ; Lysosomes/enzymology ; Male ; Mucolipidoses/pathology ; Niemann-Pick Diseases/classification ; Niemann-Pick Diseases/genetics ; Niemann-Pick Diseases/pathology ; Skin/pathology ; Sphingomyelin Phosphodiesterase/analysis ; beta-Galactosidase/analysis
Chemical Substances	Filipin (87Z59R7D14) ; Cholesterol (97C5T2UQ7J) ; Sphingomyelin Phosphodiesterase (EC 3.1.4.12) ; beta-Galactosidase (EC 3.2.1.23)
Language	English
Publishing date	1994-04
Publishing country	England
Document type	Case Reports ; Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg.31.4.317
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Zs.A 177: Show issues

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Article: Sleep fragmentation elevates behavioral, electrographic and neurochemical measures of sleepiness.

McKenna, J T / Tartar, J L / Ward, C P / Thakkar, M M / Cordeira, J W / McCarley, R W / Strecker, R E

Neuroscience

2007 Volume 146, Issue 4, Page(s) 1462–1473

Abstract: Sleep fragmentation, a feature of sleep apnea as well as other sleep and medical/psychiatric disorders, is thought to lead to excessive daytime sleepiness. A rodent model of sleep fragmentation was developed (termed sleep interruption, SI), where rats ... ...

Abstract	Sleep fragmentation, a feature of sleep apnea as well as other sleep and medical/psychiatric disorders, is thought to lead to excessive daytime sleepiness. A rodent model of sleep fragmentation was developed (termed sleep interruption, SI), where rats were awakened every 2 min by the movement of an automated treadmill for either 6 or 24 h of exposure. The sleep pattern of rats exposed to 24 h of SI resembled sleep of the apneic patient in the following ways: sleep was fragmented (up to 30 awakening/h), total rapid eye movement (REM) sleep time was greatly reduced, non-rapid eye movement (NREM) sleep episode duration was reduced (from 2 min, 5 s baseline to 58 s during SI), whereas the total amount of NREM sleep time per 24 h approached basal levels. Both 6 and 24 h of SI made rats more sleepy, as indicated by a reduced latency to fall asleep upon SI termination. Electrographic measures in the recovery sleep period following either 6 or 24 h of SI also indicated an elevation of homeostatic sleep drive; specifically, the average NREM episode duration increased (e.g. for 24 h SI, from 2 min, 5 s baseline to 3 min, 19 s following SI), as did the NREM delta power during recovery sleep. Basal forebrain (BF) levels of extracellular adenosine (AD) were also measured with microdialysis sample collection and high performance liquid chromatography detection, as previous work suggests that increasing concentrations of BF AD are related to sleepiness. BF AD levels were significantly elevated during SI, peaking at 220% of baseline during 30 h of SI exposure. These combined findings imply an elevation of the homeostatic sleep drive following either 6 or 24 h of SI, and BF AD levels appear to correlate more with sleepiness than with the cumulative amount of prior wakefulness, since total NREM sleep time declined only slightly. SI may be partially responsible for the symptom of daytime sleepiness observed in a number of clinical disorders, and this may be mediated by mechanisms involving BF AD.
MeSH term(s)	Adenosine/metabolism ; Analysis of Variance ; Animals ; Behavior, Animal ; Brain Chemistry ; Circadian Rhythm ; Disease Models, Animal ; Electroencephalography/methods ; Exercise Test ; Male ; Microdialysis/methods ; Motor Activity/physiology ; Polysomnography/methods ; Prosencephalon/metabolism ; Prosencephalon/physiopathology ; Rats ; Rats, Sprague-Dawley ; Sleep Deprivation/metabolism ; Sleep Deprivation/physiopathology ; Sleep Stages/physiology ; Time Factors ; Wakefulness
Chemical Substances	Adenosine (K72T3FS567)
Language	English
Publishing date	2007-04-18
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	196739-3
ISSN	1873-7544 ; 0306-4522
ISSN (online)	1873-7544
ISSN	0306-4522
DOI	10.1016/j.neuroscience.2007.03.009
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Zs.A 1215: Show issues

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Article: Asymptomatic cholesteryl ester storage disease in an adult controlled with simvastatin.

Iverson, S A / Cairns, S R / Ward, C P / Fensom, A H

Annals of clinical biochemistry

1997 Volume 34 Pt 4, Page(s) 433–436

MeSH term(s)	Adult ; Anticholesteremic Agents/therapeutic use ; Cholesterol Ester Storage Disease/drug therapy ; Cholesterol Ester Storage Disease/genetics ; Enzyme Inhibitors/pharmacology ; Fibroblasts ; Humans ; Lipids/blood ; Lipoproteins, LDL/blood ; Liver/enzymology ; Liver/metabolism ; Liver/pathology ; Lovastatin/analogs & derivatives ; Lovastatin/therapeutic use ; Male ; Simvastatin ; Sterol Esterase/deficiency ; Sterol Esterase/metabolism ; Transaminases/blood
Chemical Substances	Anticholesteremic Agents ; Enzyme Inhibitors ; Lipids ; Lipoproteins, LDL ; Lovastatin (9LHU78OQFD) ; Simvastatin (AGG2FN16EV) ; Transaminases (EC 2.6.1.-) ; Sterol Esterase (EC 3.1.1.13)
Language	English
Publishing date	1997-07
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	390309-6
ISSN	1758-1001 ; 0004-5632
ISSN (online)	1758-1001
ISSN	0004-5632
DOI	10.1177/000456329703400418
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Zs.A 889: Show issues

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Article: Analysis of Plasmodium falciparum PfEMP-1/var genes suggests that recombination rearranges constrained sequences.

Ward, C P / Clottey, G T / Dorris, M / Ji, D D / Arnot, D E

Molecular and biochemical parasitology

1999 Volume 102, Issue 1, Page(s) 167–177

Abstract: The var genes of Plasmodium falciparum encode a family of parasite erythrocyte surface antigens, the PfEMP-1 proteins, which function as adhesion ligands for host endothelial and erythrocyte receptors. PfEMP-1 is extremely polymorphic although the extent ...

Abstract	The var genes of Plasmodium falciparum encode a family of parasite erythrocyte surface antigens, the PfEMP-1 proteins, which function as adhesion ligands for host endothelial and erythrocyte receptors. PfEMP-1 is extremely polymorphic although the extent of this variation in naturally transmitted parasite populations is unclear. We have identified 56 different sequences from the Duffy binding-like (DBL-1) domain of var genes amplified from six different P. falciparum clones isolated from patient infections in a Sudanese village in October-November 1989. These clones have been compared with 25 PfEMP-1 sequences expressed from different var gene loci by the 3D7A clone and 48 PfEMP-1 sequences from different isolates in endemic areas such as Kenya, Brazil, Gambia, Vietnam and Vanuatu to analyse diversity in clonal, local and 'global' P. falciparum populations. Evidence that certain conserved sequences recur in clones from one Sudanese village and in isolates from all over the world suggests that var gene diversity is the result of recombinational reshuffling of a subset of conserved, presumably ancestral sequences. Recurrence of particular var sequence blocks thus leads to 'overlaps' in the PfEMP-1 sequence repertoire of different P. falciparum clones.
MeSH term(s)	Amino Acid Sequence ; Animals ; Antigenic Variation ; Antigens, Protozoan/chemistry ; Antigens, Protozoan/genetics ; Conserved Sequence ; Female ; Genes, Protozoan ; Genetic Variation ; Humans ; Malaria, Falciparum/parasitology ; Molecular Sequence Data ; Multigene Family ; Phylogeny ; Plasmodium falciparum/genetics ; Plasmodium falciparum/immunology ; Protein Structure, Tertiary ; Protozoan Proteins/chemistry ; Protozoan Proteins/genetics ; Recombination, Genetic ; Sequence Alignment ; Sudan
Chemical Substances	Antigens, Protozoan ; Protozoan Proteins ; erythrocyte membrane protein 1, Plasmodium falciparum
Language	English
Publishing date	1999-07-30
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	756166-0
ISSN	1872-9428 ; 0166-6851
ISSN (online)	1872-9428
ISSN	0166-6851
DOI	10.1016/s0166-6851(99)00106-1
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Zs.B 2437: Show issues

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Article ; Online: Volumetric MRI vs clinical predictors of Alzheimer disease in mild cognitive impairment.

Fleisher, A S / Sun, S / Taylor, C / Ward, C P / Gamst, A C / Petersen, R C / Jack, C R / Aisen, P S / Thal, L J

Neurology

2008 Volume 70, Issue 3, Page(s) 191–199

Abstract: Objective: To compare volumetric MRI of whole brain and medial temporal lobe structures to clinical measures for predicting progression from amnestic mild cognitive impairment (MCI) to Alzheimer disease (AD).: Methods: Baseline MRI scans from 129 ... ...

Abstract	Objective: To compare volumetric MRI of whole brain and medial temporal lobe structures to clinical measures for predicting progression from amnestic mild cognitive impairment (MCI) to Alzheimer disease (AD). Methods: Baseline MRI scans from 129 subjects with amnestic MCI were obtained from participants in the Alzheimer's Disease Cooperative Study group's randomized, placebo-controlled clinical drug trial of donepezil, vitamin E, or placebo. Measures of whole brain, ventricular, hippocampal, and entorhinal cortex volumes were acquired. Participants were followed with clinical and cognitive evaluations until formal criteria for AD were met, or completion of 36 months of follow-up. Logistic regression modeling was done to assess the predictive value of all MRI measures, risk factors such as APOE genotype, age, family history of AD, education, sex, and cognitive test scores for progression to AD. Least angle regression modeling was used to determine which variables would produce an optimal predictive model, and whether adding MRI measures to a model with only clinical measures would improve predictive accuracy. Results: Of the four MRI measures evaluated, only ventricular volumes and hippocampal volumes were predictive of progression to AD. Maximal predictive accuracy using only MRI measures was obtained by hippocampal volumes by themselves (60.4%). When clinical variables were added to the model, the predictive accuracy increased to 78.8%. Use of MRI measures did not improve predictive accuracy beyond that obtained by cognitive measures alone. APOE status, MRI, or demographic variables were not necessary for the optimal predictive model. This optimal model included the Delayed 10-word list recall, New York University Delayed Paragraph Recall, and the Alzheimer's Disease Assessment Scale-Cognitive Subscale total score. Conclusion: In moderate stages of amnestic mild cognitive impairment, common cognitive tests provide better predictive accuracy than measures of whole brain, ventricular, entorhinal cortex, or hippocampal volumes for assessing progression to Alzheimer disease.
MeSH term(s)	Aged ; Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Alzheimer Disease/psychology ; Apolipoproteins E/genetics ; Brain/pathology ; Brain/physiopathology ; Cerebral Ventricles/pathology ; Cognition Disorders/complications ; Cognition Disorders/diagnosis ; Cognition Disorders/genetics ; Cohort Studies ; DNA Mutational Analysis ; Demography ; Disease Progression ; Entorhinal Cortex/pathology ; Entorhinal Cortex/physiopathology ; Female ; Genetic Testing ; Genotype ; Hippocampus/pathology ; Hippocampus/physiopathology ; Humans ; Magnetic Resonance Imaging/methods ; Magnetic Resonance Imaging/standards ; Male ; Neuropsychological Tests/standards ; Predictive Value of Tests ; Sensitivity and Specificity
Chemical Substances	Apolipoproteins E
Language	English
Publishing date	2008-01-15
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Randomized Controlled Trial ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/01.wnl.0000287091.57376.65
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Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article: The entrapment of mannose-terminated glucocerebrosidase (Alglucerase) in human carrier erythrocytes.

Bax, B E / Bain, M D / Ward, C P / Fensom, A H / Chalmers, R A

Biochemical Society transactions

1996 Volume 24, Issue 3, Page(s) 441S

MeSH term(s)	Dialysis ; Drug Carriers ; Energy Metabolism ; Erythrocytes/enzymology ; Gaucher Disease/drug therapy ; Gaucher Disease/enzymology ; Glucosylceramidase/administration & dosage ; Glucosylceramidase/blood ; Glucosylceramidase/deficiency ; Humans ; In Vitro Techniques
Chemical Substances	Drug Carriers ; Glucosylceramidase (EC 3.2.1.45)
Language	English
Publishing date	1996-08
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	184237-7
ISSN	1470-8752 ; 0300-5127
ISSN (online)	1470-8752
ISSN	0300-5127
DOI	10.1042/bst024441s
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Zs.A 944: Show issues

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Article: An adult with a non-neuronopathic form of Niemann-Pick C disease.

Fensom, A H / Grant, A R / Steinberg, S J / Ward, C P / Lake, B D / Logan, E C / Hulman, G

Journal of inherited metabolic disease

1999 Volume 22, Issue 1, Page(s) 84–86

MeSH term(s)	Humans ; Middle Aged ; Niemann-Pick Diseases/metabolism ; Niemann-Pick Diseases/physiopathology
Language	English
Publishing date	1999-03-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1023/a:1005463718823
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Book: Natural control of a population of rabbits, Oryctolagus cuniculus (L.), for ten years in the Kourarau enclosure

Gibb, J.A / Ward, C.P

(Bulletin. New Zealand Department of Scientific and Industrial Research ; 223)

1978

Author's details	J.A. Gibb; C.P. Ward
Series title	Bulletin. New Zealand Department of Scientific and Industrial Research ; 223
Size	88 S
Publishing place	Wellington, New Zealand
Document type	Book
Database	Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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