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40
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
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URL Address
<a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1399-0004.2007.00790.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
Publisher
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Clinical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Female; Humans; Male; Mutation; DNA Mutational Analysis; Pedigree; Chromosomes; Human; Genetics; Population; Chromosome Mapping; Haplotypes; Pair 2/genetics; Codon; Congenital/genetics; Founder Effect; Frameshift Mutation; Nonsense; Pain Insensitivity; Sequence Deletion; Sodium Channels/genetics
Creator
An entity primarily responsible for making the resource
Goldberg YP; MacFarlane J; MacDonald ML; Thompson J; Dube MP; Mattice M; Fraser R; Young C; Hossain S; Pape T; Payne B; Radomski C; Donaldson G; Ives E; Cox J; Younghusband HB; Green R; Duff A; Boltshauser E; Grinspan GA; Dimon JH; Sibley BG; Andria G; Toscano E; Kerdraon J; Bowsher D; Pimstone SN; Samuels ME; Sherrington R; Hayden MR
Description
An account of the resource
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to chromosome 2q24-q31, a region known to contain a cluster of voltage-gated sodium channel genes. From these prioritized candidate sodium channels, we identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7. The mutations completely co-segregated with the disease phenotype, and nine of these SCN9A mutations resulted in truncation and loss-of-function of the Nav1.7 channel. These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">10.1111/j.1399-0004.2007.00790.x</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2007
Andria G
Backlog
Boltshauser E
Bowsher D
Chromosome Mapping
Chromosomes
Clinical Genetics
Codon
Congenital/genetics
Cox J
Dimon JH
DNA Mutational Analysis
Donaldson G
Dube MP
Duff A
Female
Founder Effect
Frameshift Mutation
Fraser R
Genetics
Goldberg YP
Green R
Grinspan GA
Haplotypes
Hayden MR
Hossain S
Human
Humans
Ives E
Journal Article
Kerdraon J
MacDonald ML
MacFarlane J
Male
Mattice M
Mutation
Nonsense
Pain Insensitivity
Pair 2/genetics
Pape T
Payne B
Pedigree
Pimstone SN
Population
Radomski C
Samuels ME
Sequence Deletion
Sherrington R
Sibley BG
Sodium Channels/genetics
Thompson J
Toscano E
Young C
Younghusband HB
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" rel="noreferrer">http://doi.org/10.1203/01.pdr.0000190572.68191.13</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency
Publisher
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Pediatric Research
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Female; Humans; infant; Male; Prognosis; Mutation; adolescent; Preschool; infant; Q3 Literature Search; Newborn; DNA; Mitochondrial/genetics; Proteins/genetics; Sequence Deletion; Membrane Proteins; Mitochondrial Proteins; Carrier Proteins; Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality; Czech Republic; Poland; Slovakia
Creator
An entity primarily responsible for making the resource
Bohm M; Pronicka E; Karczmarewicz E; Pronicki M; Piekutowska-Abramczuk D; Sykut-Cegielska J; Mierzewska H; Hansikova H; Vesela K; Tesarova M; Houstkova H; Houstek J; Zeman J
Description
An account of the resource
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features, prognosis, and molecular bases of the COX deficiency. Clinical symptoms including failure to thrive, encephalopathy, hypotony, Leigh syndrome, cardiac involvement, and hepatopathy appeared in most patients early after birth or in early childhood. Two thirds of all children died. Biochemical examination revealed an isolated COX deficiency in 101 children and COX deficiency combined with disturbances of other respiratory chain complexes in 79 children. Blood and cerebrospinal fluid lactate increased in 85% and 81% of examined cases, respectively. Pathogenic mutations in mitochondrial or nuclear DNA were established in 75 patients. Mutations in surfeit locus protein 1 gene (SURF1) were found in 47 children with Leigh syndrome; 2bp deletion 845-846delCT was found in 89% of independent alleles. Mutations in a mitochondrial copper-binding protein (SCO2) gene were found in nine children with encephalomyopathy and/or cardiomyopathy; all of them were homozygotes or heterozygotes for 1541G>A mutation. Different mitochondrial DNA (mtDNA) deletion or depletion were found in nine children, mtDNA mutation 3243A>G in six, mtDNA mutation 8363G>A in two children with Leigh syndrome and mtDNA mutations 8344A>G, and 9205-9206delTA in one child each. COX deficiency represents a heterogeneous group of diseases with unfavorable prognosis. Marked prevalence of two nuclear DNA mutations (845-846delCT in the SURF1 gene and 1541G>A in the SCO2 gene) associated with COX deficiency in a Slavonic population suggests the existence of regional differences in the genetic basis of COX deficiency.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1203/01.pdr.0000190572.68191.13" target="_blank" rel="noreferrer">10.1203/01.pdr.0000190572.68191.13</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
2006
Adolescent
Backlog
Bohm M
Carrier Proteins
Child
Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality
Czech Republic
DNA
Female
Hansikova H
Houstek J
Houstkova H
Humans
Infant
Journal Article
Karczmarewicz E
Male
Membrane Proteins
Mierzewska H
Mitochondrial Proteins
Mitochondrial/genetics
Mutation
Newborn
Pediatric Research
Piekutowska-Abramczuk D
Poland
Preschool
Prognosis
Pronicka E
Pronicki M
Proteins/genetics
Q3 Scoping Review Results
Sequence Deletion
Slovakia
Sykut-Cegielska J
Tesarova M
Vesela K
Zeman J