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                    "firstName": "Jens",
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                    "creatorType": "author",
                    "firstName": "Mona",
                    "lastName": "Alqatari"
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                    "creatorType": "author",
                    "firstName": "Patrik",
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                    "creatorType": "author",
                    "firstName": "Martin",
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            "abstractNote": "The existence of heterogeneous populations of dorsal root ganglion (DRG) neurons conveying different somatosensory information is the basis for the perception of touch, temperature, and pain. A differential expression of transient receptor potential (TRP) cation channels contributes to this functional heterogeneity. However, little is known about the development of functionally diverse neuronal subpopulations. Here, we use calcium imaging of acutely dissociated mouse sensory neurons and quantitative reverse transcription PCR to show that TRP cation channels emerge in waves, with the diversification of functional groups starting at embryonic day 12.5 (E12.5) and extending well into the postnatal life. Functional responses of voltage-gated calcium channels were present in DRG neurons at E11.5 and reached adult levels by E14.5. Responses to capsaicin, menthol, and cinnamaldehyde were first seen at E12.5, E16.5, and postnatal day 0 (P0), when the mRNA for TRP cation channel, subfamily V, member 1 (TRPV1), TRP cation channel, subfamily M, member 8 (TRPM8), and TRP cation channel, subfamily A, member 1 (TRPA1), respectively, was first detected. Cold-sensitive neurons were present before the expression or functional responses of TRPM8 or TRPA1. Our data support a lineage relationship in which TRPM8- and TRPA1-expressing sensory neurons derive from the population of TRPV1-expressing neurons. The TRPA1 subpopulation of neurons emerges independently in two distinct classes of nociceptors: around birth in the peptidergic population and after P14 in the nonpeptidergic class. This indicates that neurons with similar receptive properties can be generated in different sublineages at different developmental stages. This study describes for the first time the emergence of functional subtypes of sensory neurons, providing new insight into the development of nociception and thermoreception.",
            "publicationTitle": "The Journal of neuroscience: the official journal of the Society for Neuroscience",
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            "creatorSummary": "Carvalho et al.",
            "parsedDate": "2011-02",
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            "version": 382,
            "itemType": "journalArticle",
            "title": "A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy",
            "creators": [
                {
                    "creatorType": "author",
                    "firstName": "Ofélia P",
                    "lastName": "Carvalho"
                },
                {
                    "creatorType": "author",
                    "firstName": "Gemma K",
                    "lastName": "Thornton"
                },
                {
                    "creatorType": "author",
                    "firstName": "Joseph",
                    "lastName": "Hertecant"
                },
                {
                    "creatorType": "author",
                    "firstName": "Henry",
                    "lastName": "Houlden"
                },
                {
                    "creatorType": "author",
                    "firstName": "Adeline K",
                    "lastName": "Nicholas"
                },
                {
                    "creatorType": "author",
                    "firstName": "James J",
                    "lastName": "Cox"
                },
                {
                    "creatorType": "author",
                    "firstName": "Mary",
                    "lastName": "Rielly"
                },
                {
                    "creatorType": "author",
                    "firstName": "Lihadh",
                    "lastName": "Al-Gazali"
                },
                {
                    "creatorType": "author",
                    "firstName": "C Geoffrey",
                    "lastName": "Woods"
                }
            ],
            "abstractNote": "BACKGROUND: Nerve growth factor β (NGFβ) and tyrosine kinase receptor type A (TRKA) are a well studied neurotrophin/receptor duo involved in neuronal survival and differentiation. The only previously reported hereditary sensory neuropathy caused by an NGF mutation, c.661C>T (HSAN5), and the pathology caused by biallelic mutations in the TRKA gene (NTRK1) (HSAN4), share only some clinical features. A consanguineous Arab family, where five of the six children were completely unable to perceive pain, were mentally retarded, did not sweat, could not discriminate temperature, and had a chronic immunodeficiency, is reported here. The condition is linked to a new homozygous mutation in the NGF gene, c.[680C>A]+[681_682delGG].\nMETHODS: Genetic linkage and standard sequencing techniques were used to identify the causative gene. Using wild-type or mutant over-expression constructs transfected into PC12 and COS-7 cells, the cellular and molecular consequences of the mutations were investigated.\nRESULTS: The mutant gene produced a precursor protein V232fs that was unable to differentiate PC12 cells. V232fs was not secreted from cells as mature NGFβ.\nCONCLUSIONS: Both the clinical and cellular data suggest that the c.[680C>A]+[681_682delGG] NGF mutation is a functional null. The HSAN5 phenotype is extended to encompass HSAN4-like characteristics. It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway.",
            "publicationTitle": "Journal of medical genetics",
            "publisher": "",
            "place": "",
            "date": "Feb 2011",
            "volume": "48",
            "issue": "2",
            "section": "",
            "partNumber": "",
            "partTitle": "",
            "pages": "131-135",
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            "seriesTitle": "",
            "seriesText": "",
            "journalAbbreviation": "J. Med. Genet.",
            "DOI": "10.1136/jmg.2010.081455",
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            "ISSN": "1468-6244",
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            "shortTitle": "",
            "language": "eng",
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            "rights": "",
            "extra": "PMID: 20978020",
            "tags": [
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                    "tag": "Animals",
                    "type": 1
                },
                {
                    "tag": "Base Sequence",
                    "type": 1
                },
                {
                    "tag": "Blotting, Western",
                    "type": 1
                },
                {
                    "tag": "COS Cells",
                    "type": 1
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                {
                    "tag": "Cercopithecus aethiops",
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                {
                    "tag": "Chromosome Mapping",
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                {
                    "tag": "Enzyme-Linked Immunosorbent Assay",
                    "type": 1
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                {
                    "tag": "Genotype",
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                    "tag": "Hereditary Sensory and Autonomic Neuropathies",
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            "creatorSummary": "Einarsdottir et al.",
            "parsedDate": "2004-04-15",
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        "data": {
            "key": "23QJMABA",
            "version": 381,
            "itemType": "journalArticle",
            "title": "A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception",
            "creators": [
                {
                    "creatorType": "author",
                    "firstName": "Elisabet",
                    "lastName": "Einarsdottir"
                },
                {
                    "creatorType": "author",
                    "firstName": "Anna",
                    "lastName": "Carlsson"
                },
                {
                    "creatorType": "author",
                    "firstName": "Jan",
                    "lastName": "Minde"
                },
                {
                    "creatorType": "author",
                    "firstName": "Göran",
                    "lastName": "Toolanen"
                },
                {
                    "creatorType": "author",
                    "firstName": "Olle",
                    "lastName": "Svensson"
                },
                {
                    "creatorType": "author",
                    "firstName": "Göran",
                    "lastName": "Solders"
                },
                {
                    "creatorType": "author",
                    "firstName": "Gösta",
                    "lastName": "Holmgren"
                },
                {
                    "creatorType": "author",
                    "firstName": "Dan",
                    "lastName": "Holmberg"
                },
                {
                    "creatorType": "author",
                    "firstName": "Monica",
                    "lastName": "Holmberg"
                }
            ],
            "abstractNote": "Identification of genes associated with pain insensitivity syndromes can increase the understanding of the pathways involved in pain and contribute to the understanding of how sensory pathways relate to other neurological functions. In this report we describe the mapping and identification of the gene responsible for loss of deep pain perception in a large family from northern Sweden. The loss of pain perception in this family is characterized by impairment in the sensing of deep pain and temperature but with normal mental abilities and with most other neurological responses intact. A severe reduction of unmyelinated nerve fibers and a moderate loss of thin myelinated nerve fibers are observed in the patients. Thus the cases in this study fall into the class of patients with loss of pain perception with underlying peripheral neuropathy. Clinically they best fit into HSAN V. Using a model of recessive inheritance we identified an 8.3 Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of functional candidate genes in the disease critical region revealed a mutation in the coding region of the nerve growth-factor beta (NGFB) gene specific for the disease haplotype. This NGF mutation seems to separate the effects of NGF involved in development of central nervous system functions such as mental abilities, from those involved in peripheral pain pathways. This mutation could therefore potentially provide an important tool to study different roles of NGF, and of pain control.",
            "publicationTitle": "Human molecular genetics",
            "publisher": "",
            "place": "",
            "date": "Apr 15, 2004",
            "volume": "13",
            "issue": "8",
            "section": "",
            "partNumber": "",
            "partTitle": "",
            "pages": "799-805",
            "series": "",
            "seriesTitle": "",
            "seriesText": "",
            "journalAbbreviation": "Hum. Mol. Genet.",
            "DOI": "10.1093/hmg/ddh096",
            "citationKey": "",
            "url": "",
            "accessDate": "",
            "PMID": "",
            "PMCID": "",
            "ISSN": "0964-6906",
            "archive": "",
            "archiveLocation": "",
            "shortTitle": "",
            "language": "eng",
            "libraryCatalog": "NCBI PubMed",
            "callNumber": "",
            "rights": "",
            "extra": "PMID: 14976160",
            "tags": [
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                    "tag": "Adolescent",
                    "type": 1
                },
                {
                    "tag": "Adult",
                    "type": 1
                },
                {
                    "tag": "Animals",
                    "type": 1
                },
                {
                    "tag": "Cattle",
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                {
                    "tag": "Child",
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                    "tag": "Child, Preschool",
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                    "tag": "DNA Mutational Analysis",
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                    "tag": "Protein Structure, Secondary",
                    "type": 1
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                    "tag": "Rats",
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                    "type": 1
                }
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