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Article ; Online: The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.

Searle, Claire / Mavrogiannis, Lampros A / Bennett, Christopher P / Charlton, Ruth S

Genetic testing and molecular biomarkers

2012 Volume 16, Issue 5, Page(s) 453–455

Abstract: TMC1, a second-tier deafness gene below GJB2, is an appreciable cause of recessive nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South Asia. Additionally, a single founder mutation, c.100C>T (p.Arg34X), dominates the ...

Abstract	TMC1, a second-tier deafness gene below GJB2, is an appreciable cause of recessive nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South Asia. Additionally, a single founder mutation, c.100C>T (p.Arg34X), dominates the TMC1 mutation spectrum. We investigated the frequency of TMC1 c.100C>T in a large set of British Asians with hearing loss, collectively a group with high prevalence of genetic deafness and limited routine clinical testing options beyond GJB2, on a candidate basis. An estimate of 0.21% (95% confidence interval, 0.04%-1.18%) was gained, indicating no significant enrichment in our set. Identification of the common non-GJB2 deafness genes and mutations in British Asian communities would require data from autozygosity mapping and/or massively parallel sequencing of gene panels.
MeSH term(s)	Asian Continental Ancestry Group/genetics ; Connexins ; Deafness/epidemiology ; Deafness/etiology ; Deafness/genetics ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Membrane Proteins/genetics ; Mutation ; Prevalence ; United Kingdom/ethnology
Chemical Substances	Connexins ; GJB2 protein, human ; Membrane Proteins ; TMC1 protein, human
Language	English
Publishing date	2012-01-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	2486664-7
ISSN	1945-0257 ; 1945-0265
ISSN (online)	1945-0257
ISSN	1945-0265
DOI	10.1089/gtmb.2011.0254
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Article: Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates.

Mercer, Ben N / Begg, Gordon A / Page, Stephen P / Bennett, Christopher P / Tayebjee, Muzahir H / Mahida, Saagar

Frontiers in physiology

2016 Volume 7, Page(s) 266

Abstract: The early repolarization (ER) pattern on the 12-lead electrocardiogram is characterized by J point elevation in the inferior and/or lateral leads. The ER pattern is associated with an increased risk of ventricular arrhythmias and sudden cardiac death ( ... ...

Abstract	The early repolarization (ER) pattern on the 12-lead electrocardiogram is characterized by J point elevation in the inferior and/or lateral leads. The ER pattern is associated with an increased risk of ventricular arrhythmias and sudden cardiac death (SCD). Based on studies in animal models and genetic studies, it has been proposed that J point elevation in ER is a manifestation of augmented dispersion of repolarization which creates a substrate for ventricular arrhythmia. A competing theory regarding early repolarization syndrome (ERS) proposes that the syndrome arises as a consequence of abnormal depolarization. In recent years, multiple clinical studies have described the characteristics of ER patients with VF in more detail. The majority of these studies have provided evidence to support basic science observations. However, not all clinical observations correlate with basic science findings. This review will provide an overview of basic science and genetic research in ER and correlate basic science evidence with the clinical phenotype.
Language	English
Publishing date	2016-06-30
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2016.00266
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Book: Enterprises for the recycling and composting of municipal solid waste in Jakarta, Indonesia

Bennett, Christopher P

(Development discussion papers ; 433)

1992

Institution	Center for Policy and Implementation Studies Harvard Institute for International Development
Author's details	Center for Policy and Implementation Studies. Christopher P. A. Bennett
Series title	Development discussion papers ; 433
Keywords	24;34;60
Language	English
Size	IV, 78 S. : Ill., graph. Darst
Document type	Book
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Article ; Online: Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss.

Yoong, Soo Y / Mavrogiannis, Lampros A / Wright, John / Fairley, Lesley / Bennett, Christopher P / Charlton, Ruth S / Spencer, Nick

Archives of disease in childhood

2011 Volume 96, Issue 9, Page(s) 798–803

Abstract: Objective: To determine the clinical sensitivity of DFNB1 genetic testing (analysis of the connexin 26 gene GJB2) for non-syndromic sensorineural hearing loss (SNHL) in British Pakistani children and extend to a comparison with British White children ... ...

Abstract	Objective: To determine the clinical sensitivity of DFNB1 genetic testing (analysis of the connexin 26 gene GJB2) for non-syndromic sensorineural hearing loss (SNHL) in British Pakistani children and extend to a comparison with British White children and literature data. Design: Retrospective cohort study. Setting: City of Bradford, UK. Patients: Overall, 177 children (152 families) were eligible; 147 children (123 families) were British Pakistani, and 30 children (29 families) were British White. Interventions: DFNB1 testing was offered. Main outcome measures: Detection rate for pathogenic bi-allelic GJB2 mutations. Results: DFNB1 testing yielded positive results in 6.9% British Pakistani families compared with 15.4% British White families. Of 65 British Pakistani children tested (from 58 families), five children (from four families) were found to be homozygous for the common South Asian GJB2 mutation p.Trp24X. Of 14 British White children tested (from 13 families), bi-allelic pathogenic GJB2 mutations were seen in two children (from two families). Conclusions: The contribution of DFNB1 to non-syndromic SNHL in the Bradford British Pakistani children appears to be low when compared with a White peer group and White populations in general. The high prevalence of genetic deafness in this community, attributed to family structure and immigration history, points to a dilution effect in favour of other recessive deafness genes/loci.
MeSH term(s)	Adolescent ; Asian Continental Ancestry Group/genetics ; Child ; Child, Preschool ; Connexin 26 ; Connexins/genetics ; England/epidemiology ; European Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease ; Hearing Loss, Sensorineural/ethnology ; Hearing Loss, Sensorineural/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Retrospective Studies
Chemical Substances	Connexins ; GJB2 protein, human ; Connexin 26 (127120-53-0)
Language	English
Publishing date	2011-05-17
Publishing country	England
Document type	Journal Article
ZDB-ID	524-1
ISSN	1468-2044 ; 0003-9888 ; 1359-2998
ISSN (online)	1468-2044
ISSN	0003-9888 ; 1359-2998
DOI	10.1136/adc.2010.209262
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Article ; Online: HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein, Ronja / Parry, David A / Nalbach, Lisa / Logan, Clare V / Strom, Tim M / Hartill, Verity L / Carr, Ian M / Korenke, Georg C / Uppal, Sandeep / Ahmed, Mushtaq / Wieland, Thomas / Markham, Alexander F / Bennett, Christopher P / Gillessen-Kaesbach, Gabriele / Sheridan, Eamonn G / Kaiser, Frank J / Bonthron, David T

Journal of medical genetics

2015 Volume 52, Issue 12, Page(s) 797–803

Abstract: Background: The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the ... ...

Abstract	Background: The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait. Methods: Autosomal recessive inheritance was suggested by consanguinity in one family and by sibling recurrences with normal parents in the second. Autozygosity mapping and exome sequencing, respectively, were used to identify the causative gene. Results: In both families, biallelic loss-of-function mutations in HACE1 were identified. HACE1 is an E3 ubiquitin ligase that regulates the activity of cellular GTPases, including Rac1 and members of the Rab family. In the consanguineous family, a homozygous mutation p.R219* predicted a truncated protein entirely lacking its catalytic domain. In the other family, compound heterozygosity for nonsense mutation p.R748* and a 20-nt insertion interrupting the catalytic homologous to the E6-AP carboxyl terminus (HECT) domain was present; western blot analysis of patient cells revealed an absence of detectable HACE1 protein. Conclusion: HACE1 mutations underlie a new autosomal recessive neurodevelopmental disorder. Previous studies have implicated HACE1 as a tumour suppressor gene; however, since cancer predisposition was not observed either in homozygous or heterozygous mutation carriers, this concept may require re-evaluation.
MeSH term(s)	Cells, Cultured ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Genes, Recessive ; Humans ; Infant ; Male ; Neurodevelopmental Disorders/genetics ; Pedigree ; Polymorphism, Single Nucleotide ; Syndrome ; Ubiquitin-Protein Ligases/deficiency ; Ubiquitin-Protein Ligases/genetics
Chemical Substances	HACE1 protein, human (EC 2.3.2.26) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2015-09-30
Publishing country	England
Document type	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/jmedgenet-2015-103344
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Book: Agricultural intensification and indigenous technological change

Tomich, Thomas Patrick / Hastuti / Bennett, Christopher P

policy lessons from smallholder coffee in highland Sumatra

(Development discussion papers ; 457)

1993

Institution	Harvard Institute for International Development
Author's details	Thomas P. Tomich ; Hastuti ; Christopher P. A. Bennett
Series title	Development discussion papers ; 457
Keywords	24;34;60
Language	English
Size	24 S., [3] Bl. : graph. Darst
Document type	Book
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Article: The quality of smallholder coffee in South Sumatra

Bennett, Christopher P / Godoy, Ricardo A

Bulletin of Indonesian economic studies 28 ,1, S. 85-100

the production of low-quality coffee as a response to world demand

1992

Author's details	Christopher P. A. Bennett ; Ricardo A. Godoy
Keywords	Kaffee ; Außenhandel ; Produktqualität ; Indonesien ; Kaffeeanbau ; Kleinbauern ; Sumatra (Süd)
Language	English
Size	Graph. Darst
Publisher	Taylor & Francis
Publishing place	Basingstoke
Document type	Article
ZDB-ID	425746-7 ; 2050350-7
ISSN	1472-7234 ; 0007-4918
ISSN (online)	1472-7234
ISSN	0007-4918
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Article: The quality of smallholder cloves in Maluku

Godoy, Ricardo A / Bennett, Christopher P

Bulletin of Indonesian economic studies 26 ,2, S. 59-78

the local response to domestic demand for a high-quality product

1990

Author's details	Ricardo Godoy ; Christopher Bennett
Keywords	Kretek ; Kleinbauern ; Gewürz ; Produktqualität ; Indonesien
Language	English
Size	Graph. Darst
Publisher	Taylor & Francis
Publishing place	Basingstoke
Document type	Article
ZDB-ID	425746-7 ; 2050350-7
ISSN	1472-7234 ; 0007-4918
ISSN (online)	1472-7234
ISSN	0007-4918
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Article ; Online: Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen, Thi Tuyet Mai / Murakami, Yoshiko / Sheridan, Eamonn / Ehresmann, Sophie / Rousseau, Justine / St-Denis, Anik / Chai, Guoliang / Ajeawung, Norbert F / Fairbrother, Laura / Reimschisel, Tyler / Bateman, Alexandra / Berry-Kravis, Elizabeth / Xia, Fan / Tardif, Jessica / Parry, David A / Logan, Clare V / Diggle, Christine / Bennett, Christopher P / Hattingh, Louise /

Rosenfeld, Jill A / Perry, Michael Scott / Parker, Michael J / Le Deist, Françoise / Zaki, Maha S / Ignatius, Erika / Isohanni, Pirjo / Lönnqvist, Tuula / Carroll, Christopher J / Johnson, Colin A / Gleeson, Joseph G / Kinoshita, Taroh / Campeau, Philippe M

American journal of human genetics

2017 Volume 101, Issue 5, Page(s) 856–865

Abstract: Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have ...

Abstract	Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively). This complex orchestrates the attachment of the GPI anchor to the C terminus of precursor proteins in the endoplasmic reticulum. Here, we report bi-allelic mutations in GPAA1 in ten individuals from five families. Using whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs
MeSH term(s)	Acyltransferases/genetics ; Adolescent ; Adult ; Alleles ; Atrophy/genetics ; Bone Diseases, Metabolic/genetics ; Cerebellum/pathology ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Epilepsy/genetics ; Exome/genetics ; Female ; Fibroblasts/pathology ; Glycosylphosphatidylinositols/genetics ; Humans ; Male ; Membrane Glycoproteins/genetics ; Muscle Hypotonia/genetics ; Mutation/genetics ; Pedigree ; RNA, Messenger/genetics ; Seizures/genetics
Chemical Substances	GPAA1 protein, human ; Glycosylphosphatidylinositols ; Membrane Glycoproteins ; RNA, Messenger ; Acyltransferases (EC 2.3.-) ; COOH-terminal signal transamidase (EC 2.3.2.-)
Language	English
Publishing date	2017-11-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2017.09.020
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Article ; Online: Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

Uppal, Sandeep / Diggle, Christine P / Carr, Ian M / Fishwick, Colin W G / Ahmed, Mushtaq / Ibrahim, Gamal H / Helliwell, Philip S / Latos-Bieleńska, Anna / Phillips, Simon E V / Markham, Alexander F / Bennett, Christopher P / Bonthron, David T

Nature genetics

2008 Volume 40, Issue 6, Page(s) 789–793

Abstract: Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The ...

Abstract	Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized. This familial disorder can cause diagnostic confusion, as well as significant disability. By autozygosity methods, we mapped PHO to chromosome 4q33-q34 and identified mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation. Homozygous individuals develop PHO secondary to chronically elevated prostaglandin E(2) levels. Heterozygous relatives also show milder biochemical and clinical manifestations. These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated. Testing for HPGD mutations and biochemical testing for HPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology.
MeSH term(s)	Adolescent ; Adult ; Amino Acid Sequence ; Child ; Chromosomes, Human, Pair 4/genetics ; Consanguinity ; Dinoprostone/urine ; Female ; Frameshift Mutation/genetics ; Genome, Human ; Heterozygote ; Homozygote ; Humans ; Hydroxyprostaglandin Dehydrogenases/chemistry ; Hydroxyprostaglandin Dehydrogenases/genetics ; Hydroxyprostaglandin Dehydrogenases/metabolism ; Male ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Osteoarthropathy, Primary Hypertrophic/enzymology ; Osteoarthropathy, Primary Hypertrophic/etiology ; Osteoarthropathy, Primary Hypertrophic/pathology ; Pedigree ; Protein Conformation ; Recombinant Proteins/genetics ; Recombinant Proteins/isolation & purification ; Recombinant Proteins/metabolism ; Sequence Homology, Amino Acid
Chemical Substances	Recombinant Proteins ; Hydroxyprostaglandin Dehydrogenases (EC 1.1.1.-) ; 15-hydroxyprostaglandin dehydrogenase (EC 1.1.1.141) ; Dinoprostone (K7Q1JQR04M)
Language	English
Publishing date	2008-05-25
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.153
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