anti-ALMS1 (ALMS1) Antikörper

Bezeichnung:
anti-Alstrom Syndrome 1 Antikörper (ALMS1)
Auf www.antikoerper-online.de finden Sie aktuell 37 Alstrom Syndrome 1 (ALMS1) Antikörper von 14 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen ALMS1 Kits (3) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 43 ALMS1 Produkte verfügbar.
Synonyme:
ALMS1, ALSS, bbb
Alle Antikörper anzeigen Gen GeneID UniProt
ALMS1 7840 Q8TCU4
ALMS1 236266 Q8K4E0
ALMS1 297408  

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Weitere Synonyme anzeigen

Meistgesuchte Reaktivitäten zu anti-ALMS1 (ALMS1) Antikörper

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anti-Human ALMS1 Antikörper:

anti-Mouse (Murine) ALMS1 Antikörper:

anti-Rat (Rattus) ALMS1 Antikörper:

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Am meisten referenzierte anti-ALMS1 Antikörper

  1. Mouse (Murine) Polyclonal ALMS1 Primary Antibody für IHC, WB - ABIN350040 : Carninci, Kasukawa, Katayama, Gough, Frith, Maeda, Oyama, Ravasi, Lenhard, Wells, Kodzius, Shimokawa, Bajic, Brenner, Batalov, Forrest, Zavolan, Davis, Wilming, Aidinis, Allen, Ambesi-Impiombato et al.: The transcriptional landscape of the mammalian genome. ... in Science (New York, N.Y.) 2005 (PubMed)
    Zeige alle 5 Referenzen für 350040

  2. Human Polyclonal ALMS1 Primary Antibody für IHC, ELISA - ABIN184952 : Collin, Marshall, Ikeda, So, Russell-Eggitt, Maffei, Beck, Boerkoel, Sicolo, Martin, Nishina, Naggert: Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. in Nature genetics 2002 (PubMed)

Weitere Antikörper gegen ALMS1 Interaktionspartner

Human Alstrom Syndrome 1 (ALMS1) Interaktionspartner

  1. DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues.

  2. ALMS1 homozygous mutation is associated with Alstrom syndrome.

  3. Two novel mutations causing phenotypic LCA (zeige CLTA Antikörper) and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.

  4. We conclude that two independent mutations in ALMS1 and DYSF (zeige DYSF Antikörper) cause CRD (zeige CRX Antikörper) and muscular dystrophy in the studied consanguineous Israeli Arab family.

  5. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare.

  6. In this study, we have characterized the presenting ophthalmic phenotype of young children molecularly confirmed to harbor recessive homozygous ALMS1 mutations but not yet diagnosed with Alstrom syndrome.

  7. Identification of a homozygous deleterious mutation in the ALMS1 gene as the cause of mitogenic cardiomyopathy in two siblings.

  8. regulates Notch (zeige NOTCH1 Antikörper) activation and the accumulation of receptor in late endosomes

  9. Our observation broadens the clinical spectrum of Alstrom syndrome and suggests that ALMS1 mutations may be considered in patients who initially present with an acute onset of insulin (zeige INS Antikörper)-dependent diabetes

  10. Our study expands the clinical spectrum associated with ALMS1 mutations and supports complete ALMS1 gene sequencing in children that present with infantile cardiomyopathy and retinopathy.

Mouse (Murine) Alstrom Syndrome 1 (ALMS1) Interaktionspartner

  1. GLUT4 (zeige SLC2A4 Antikörper) defects in adipose tissue are early signs of metabolic alterations in Alms1-deficient mice, a mouse model for obesity and insulin (zeige INS Antikörper) resistance.

  2. This study demonitrated that Alms1 localizes at the base of cilia in hypothalamic neurons and Alms1 is lost from this location in foz/foz mice.

  3. a role for ALMS1 variants in the recycling endosome pathway

  4. investigated the role of ALMS1 in the cochlea and the pathogenesis of hearing loss in Alstrom Syndrome

  5. Disruption in ALMS1 manifests human Alstrom syndrome

  6. In vitro knockdown of Alms1 in mice causes stunted cilia on kidney epithelial cells and prevents these cells from increasing calcium influx in response to mechanical stimuli.

ALMS1 Antigen-Profil

Beschreibung des Gens

This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.

Alternative names and synonyms associated with ALMS1

  • Alstrom syndrome 1 (ALMS1) Antikörper
  • Alstrom syndrome 1 (alms1) Antikörper
  • Alstrom syndrome 1 (Alms1) Antikörper
  • ALMS1 Antikörper
  • ALSS Antikörper
  • bbb Antikörper

Bezeichner auf Proteinebene für ALMS1

Alstrom syndrome 1 , Alstrom syndrome protein 1-like , Alstrom syndrome protein 1 , Alstrom syndrome 1 homolog , Alstrom syndrome protein 1 homolog

GENE ID SPEZIES
422949 Gallus gallus
100380035 Xenopus (Silurana) tropicalis
100436582 Pongo abelii
100477475 Ailuropoda melanoleuca
459325 Pan troglodytes
100058956 Equus caballus
706612 Macaca mulatta
7840 Homo sapiens
475795 Canis lupus familiaris
533055 Bos taurus
236266 Mus musculus
297408 Rattus norvegicus
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