LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 5 of total 5

Search options

  1. Article: Conserved but not critical: Trafficking and function of Na

    Tyagi, Sidharth / Sarveswaran, Nivedita / Higerd-Rusli, Grant P / Liu, Shujun / Dib-Hajj, Fadia B / Waxman, Stephen G / Dib-Hajj, Sulayman D

    Frontiers in molecular neuroscience

    2023  Volume 16, Page(s) 1161028

    Abstract: Non-addictive treatment of chronic pain represents a major unmet clinical need. Peripheral voltage-gated sodium ( ... ...

    Abstract Non-addictive treatment of chronic pain represents a major unmet clinical need. Peripheral voltage-gated sodium (Na
    Language English
    Publishing date 2023-03-16
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2023.1161028
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.

    Sarveswaran, Nivedita / Pamela, Yunisa / Reddy, Akhila A N / Mustari, Akash P / Parthasarathi, Anchala / Mancini, Anthony J / Bishnoi, Anuradha / Inamadar, Arun C / Olabi, Bayanne / Browne, Fiona / Deshmukh, Gargi N / McWilliam, Kenneth / Vinay, Keshavamurthy / Srinivas, Sahana / Ibbs, Samantha / Natarajan, Sivakumar / Rao, Vadlamudi R / Zawar, Vijay / Gowda, Vykuntaraju K /
    Shaikh, Samiha S / Moss, Celia / Woods, Christopher G / Drissi, Ichrak

    The British journal of dermatology

    2024  

    Abstract: Background: PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with ...

    Abstract Background: PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated with homozygous 18 alanines (18A), and congenital insensitivity to pain (CIP) with normal itch with homozygous 19A. Knowledge of the phenotype, genotype, and disease mechanism of MiTES is incomplete. Why PRDM12 18A versus 19A can cause almost opposite phenotypes is unknown; no other poly-alanine or poly-glutamine tract expansion disease causes two such disparate phenotypes.
    Methods: We assessed the genotype and phenotype of 9 new, 9 atypical, and 6 previously reported patients diagnosed with MiTES. Using cell lines with homozygous PRDM12 of 12A (normal), 18A (MiTES) and 19A (CIP) we examined PRDM12 aggregation and subcellular localisation by image separation confocal microscopy and sub-cellular fractionation western blotting.
    Results: MiTES presents in the first year of life, and in all cases the condition regresses over the first decade leaving scarring. The MiTES phenotype is highly distinctive. Features overlapping with PRDM12-CIP are rarely found. The genotype-phenotype study of PRDM12 polyalanine tract shows that 7A -15A are normal; 16A -18A are associated with MiTES; 19A leads to CIP; and no clinically atypical MiTES cases had an expansion. PRDM12 aggregation and sub-cellular localisation differ significantly between 18A and normal 12A cell lines and between 18A and 19A cell lines. MiTES is a new protein aggregation disease.
    Conclusion: We provide diagnostic criteria for MiTES, and improved longitudinal data. MiTES and CIP are distinct phenotypes despite their genotypes varying by a single alanine in the PRDM12 polyalanine tract. We found clear distinctions between the cellular phenotypes of normal, MiTES and CIP cells.. We hypothesise that the developmental environment of the trigeminal ganglion is unique and critically sensitive to prenatal and postnatal levels of PRDM12.
    Language English
    Publishing date 2024-04-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 80076-4
    ISSN 1365-2133 ; 0007-0963
    ISSN (online) 1365-2133
    ISSN 0007-0963
    DOI 10.1093/bjd/ljae151
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Ui VI Zs.23: 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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Depolarizing Na

    Higerd-Rusli, Grant P / Alsaloum, Matthew / Tyagi, Sidharth / Sarveswaran, Nivedita / Estacion, Mark / Akin, Elizabeth J / Dib-Hajj, Fadia B / Liu, Shujun / Sosniak, Daniel / Zhao, Peng / Dib-Hajj, Sulayman D / Waxman, Stephen G

    The Journal of neuroscience : the official journal of the Society for Neuroscience

    2022  Volume 42, Issue 24, Page(s) 4794–4811

    Abstract: Neuronal excitability relies on coordinated action of functionally distinction channels. Voltage-gated sodium ( ... ...

    Abstract Neuronal excitability relies on coordinated action of functionally distinction channels. Voltage-gated sodium (Na
    Language English
    Publishing date 2022-06-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604637-x
    ISSN 1529-2401 ; 0270-6474
    ISSN (online) 1529-2401
    ISSN 0270-6474
    DOI 10.1523/JNEUROSCI.0058-22.2022
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1668: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations.

    Inamadar, Arun C / Vinay, Keshavmurthy / Olabi, Bayanne / Sarveswaran, Nivedita / Bishnoi, Anuradha / Woods, Christopher G / Moss, Celia

    Journal of the American Academy of Dermatology

    2019  Volume 81, Issue 6, Page(s) 1415–1417

    MeSH term(s) Adult ; Carrier Proteins/genetics ; Child ; Child, Preschool ; Facial Injuries/genetics ; Female ; Humans ; Infant ; Male ; Mutation ; Nerve Tissue Proteins/genetics ; Phenotype ; Self-Injurious Behavior/genetics ; Syndrome
    Chemical Substances Carrier Proteins ; Nerve Tissue Proteins ; Prdm12 protein, human
    Language English
    Publishing date 2019-05-22
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2019.05.036
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1540: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes.

    Stouffer, Kaitlin / Nahorski, Michael / Moreno, Pablo / Sarveswaran, Nivedita / Menon, David / Lee, Michael / Geoffrey Woods, C

    BMC genomics

    2017  Volume 18, Issue 1, Page(s) 944

    Abstract: Background: Significant human diseases/phenotypes exist which require both an environmental trigger event and a genetic predisposition before the disease/phenotype emerges, e.g. Carbamazepine with the rare SNP allele of rs3909184 causing Stevens Johnson ...

    Abstract Background: Significant human diseases/phenotypes exist which require both an environmental trigger event and a genetic predisposition before the disease/phenotype emerges, e.g. Carbamazepine with the rare SNP allele of rs3909184 causing Stevens Johnson syndrome, and aminoglycosides with rs267606617 causing sensory neural deafness. The underlying genotypes are fully penetrant only when the correct environmental trigger(s) occur, otherwise they are silent and harmless. Such diseases/phenotypes will not appear to have a Mendelian inheritance pattern, unless the environmental trigger is very common (>50% per lifetime). The known causative genotypes are likely to be protein-altering SNPs with dominant/semi-dominant effect. We questioned whether other diseases and phenotypes could have a similar aetiology.
    Methods: We wrote the fSNPd program to analyse multiple exomes from a test cohort simultaneously with the purpose of identifying SNP alleles at a significantly different frequency to that of the general population. fSNPd was tested on trial cohorts, iteratively improved, and modelled for performance against an idealised association study under mutliple parameters. We also assessed the seqeuncing depath of all human exons to determine which were sufficiently well sequenced in an exome to be sued by fSNPd - by assessing forty exomes base by base.
    Results: We describe a simple methodology for the detection of SNPs capable of causing a phenotype triggered by an environmental event. This uses cohorts of relatively small size (30-100 individuals) with the phenotype being investigated, their exomes, and thence seeks SNP allele frequencies significantly different from expected to identify potentially clinically important, protein altering SNP alleles. The strengths and weaknesses of this approach for discovering significant genetic causes of human disease are comparable to Mendelian disease mutation detection and Association Studies.
    Conclusions: The fSNPd methodology is another approach, and has potentially significant advantage over Association studies in needing far fewer individuals, to detect genes involved in the pathogenesis of a diseases/phenotypes. Furthermore, the SNP alleles identified alter amino acids, potentially making it easier to devise functional assays of protein function to determine pathogenicity.
    MeSH term(s) Alleles ; Cohort Studies ; Exome ; Gene-Environment Interaction ; Genetic Predisposition to Disease ; Genotype ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Stevens-Johnson Syndrome/genetics ; Stevens-Johnson Syndrome/pathology
    Language English
    Publishing date 2017-12-04
    Publishing country England
    Document type Journal Article
    ISSN 1471-2164
    ISSN (online) 1471-2164
    DOI 10.1186/s12864-017-4325-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

To top