Protocadherin 19 Proteine (PCDH19)

The protein encoded by PCDH19 is a member of the delta-2 protocadherin subclass of the cadherin superfamily. Zusätzlich bieten wir Ihnen Protocadherin 19 Antikörper (17) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
PCDH19 57526 Q8TAB3
PCDH19 279653 Q80TF3
Ratte PCDH19 PCDH19 317183  
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Showing 3 out of 7 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 60 Days
$9,626.73
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 60 Days
$9,626.73
Details
Wheat germ Human GST tag 25 μg Anmelden zum Anzeigen 11 bis 12 Tage
$516.00
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PCDH19 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human ,
, ,
Mouse (Murine)
,

Weitere Proteine zu Protocadherin 19 (PCDH19) Interaktionspartnern

Human Protocadherin 19 (PCDH19) Interaktionspartner

  1. The aim of this study was to analyze a large cohort of patients with PCDH19-related epilepsy

  2. PCDH19 mutation is associated with early infantile epileptic encephalopathy.

  3. we have added to the characterization of PCDH19-related epilepsy. In addition to epilepsy, affected individuals display a complex neuropsychiatric syndrome in which the behavioral and sleep dysregulation are prominent.

  4. reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder

  5. We report the fifth confirmed male with somatic mosaicism of a novel pathogenic variant c.2147+2 T>C located in the splice site of Intron 1 of the PCDH19 gene, which continues to support that cellular interference is responsible for the pathogenic mechanism

  6. This is the second male with somatic mosaicism for PCDH19 deficiency, providing further support for cellular interference as the pathogenic mechanism for this condition, which leads to this unusual mode of inheritance in which females are more severely affected than males.

  7. Our results show a large spectrum of intellectual disability and a very high rate of Autism spectrum disorder in patients with epilepsy and PCDH-19 mutations

  8. These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to PCDH19-FE. Some of these defects could be addressed by stimulating adrenocortical activity.

  9. Results summarized the clinical spectrum of female epilepsy patients with protocadherin 19 (PCDH19) mutations in a Chinese population.

  10. mild tonic, fluttering and mild clonic phases were most characteristic of seizures of PCDH19-related epilepsy

  11. The study demonistrated that most effective drugs in patients with PCDH19 mutations were bromide and clobazam.

  12. PCDH19 has a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain

  13. Two mosaic PCDH19 point mutations are described in male patients with PCDH19-related epilepsy.

  14. steroids and in particular neurosteroids (e.g. allopregnanolone) play an important role in PCDH19-FE and represent a realistic therapeutic target.

  15. This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol

  16. This study proposes corticosteroid treatment as an efficacious adjunctive treatment for the acute symptoms of PCDH19-Generalized Convulsive Epilepsy and suggests BBB involvement in this disease.

  17. analysis of four novel mutations in the PCDH19 gene found in isolated cases of girls with infantile onset epilepsy

  18. The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation.

  19. girls with a de novo mutation in PCDH19 presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages

  20. Epileptic encephalopathy related to mutations in the PCDH19 genes.

Mouse (Murine) Protocadherin 19 (PCDH19) Interaktionspartner

  1. Study investigated the expression pattern of Pcdh19 and Ncdh in limbic structures at four postnatal stages of C57BL/6J mice by using double-label in situ hybridization. Results confirm a strong expression of both, Ncdh and Pcdh19, in structures of the limbic system with overlapping expression patterns particularly within regions of the amygdala, the hippocampus and the ventral hypothalamus.

  2. These results suggest that Pcdh19 is required for behavioral control in mice, but its genetic loss differentially affects the male and female behavior, as seen in human, and they also support the hypothesis that the mosaic expression of Pcdh19 in brains perturbs neuronal interactions.

  3. Study shows that Pcdh19 expression is widely expressed in the developing CNS through to adulthood. Although brain morphology in Pcdh19Y/beta-Geo, Pcdh19beta-Geo/beta-Geo and Pcdh19+/beta-Geo mutants appears grossly normal, in vitro analysis indicates that Pcdh19 null neurons have a slight but significant increase in motility.

  4. Pcdh19 gene is developmentally regulated during mouse organogenesis and shows a unique expression profile among protocadherins.

Protocadherin 19 (PCDH19) Protein Überblick

Protein Überblick

The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.

Genbezeichner und Symbole assoziert mit Protocadherin 19 Proteine (PCDH19)

  • protocadherin 19 (PCDH19)
  • protocadherin 19 (Pcdh19)
  • B530002L05Rik Protein
  • EFMR Protein
  • EIEE9 Protein
  • Gm717 Protein
  • mKIAA1313 Protein
  • RGD1565392 Protein

Bezeichner auf Proteinebene für Protocadherin 19 Proteine (PCDH19)

protocadherin-19

GENE ID SPEZIES
57526 Homo sapiens
279653 Mus musculus
317183 Rattus norvegicus
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