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Mostrando 21 - 40 Resultados de 3,173 Para Buscar '"ALMS"', tiempo de consulta: 0.39s Limitar resultados
  1. 21
    “…Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy. …”
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    Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1
  2. 22
    “…To gain better insight into the pathways through which ALMS1 functions, we carried out a yeast two hybrid (Y2H) screen in several mouse tissue libraries to identify ALMS1 interacting partners. …”
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    The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway
  3. 23
    “…In the MIA-induced OA rat model, ALM16 significantly reduced the PWT compared to the control group. …”
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    Cartilage protective and anti-analgesic effects of ALM16 on monosodium iodoacetate induced osteoarthritis in rats
  4. 24
    “…BACKGROUND: ALM201 is a therapeutic peptide derived from FKBPL that has previously undergone preclinical and clinical development for oncology indications and has completed a Phase 1a clinical trial in ovarian cancer patients and other advanced solid tumours. …”
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    FKBPL-based peptide, ALM201, targets angiogenesis and cancer stem cells in ovarian cancer
  5. 25
    “…BALB/c mice were immunized three times in 3-weeks intervals using ALM plus QS loaded microspheres [(ALM+QS)(ALG)], ALM encapsulated with alginate microspheres [(ALM)(ALG)], (ALM)(ALG) + QS, ALM + QS, ALM alone or PBS. …”
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    Immunization Against Cutaneous Leishmaniasis by Alginate Microspheres Loaded With Autoclaved Leishmania Major (ALM) and Quillaja Saponins
  6. 26
    “…Hair cell loss is also seen in postmortem analysis of Alström patients. The zebrafish alms1 mutant has metabolic defects similar to those seen in Alström syndrome and Alms1 mutant mice. …”
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    alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants
  7. 27
    por Buddell, Tyler, Quinn, Christopher C
    Publicado 2021
    “…Here, we report a novel phenotype for the egl-19(gof) mutation, whereby it causes the growth of an ectopic process from the ALM cell body. We also extend our previous results to show that the egl-19(gof) mutation causes axon termination defects not only in the PLM axon, but also in the ALM axon. …”
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    An autism-associated calcium channel variant causes defects in neuronal polarity in the ALM neuron of C. elegans
  8. 28
    “…Hypertrophic cardiomyopathy has not been described. The ALMS1 gene is a large gene that encodes for a ubiquitously expressed protein. …”
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    A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat
  9. 29
    “…(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1 gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. …”
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    Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
  10. 30
    “…She carried the pathogenic compound heterozygous mutation of ALMS1 (c.2296_2299del4 and c.11460C>A). These stop-gain mutations likely caused truncation of the ALMS1 protein. …”
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    Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature
  11. 31
    “…INTERPRETATION: The recovery of full-length BBS2 and ALMS1 expression and correction of anatomical and functional ciliary defects in BBS2(Y24*/R275*) and ALMS1(S1645*/S1645*) fibroblasts suggest TRIDs are a potential therapeutic option for the treatment of nonsense-mediated ciliopathies.…”
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    Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts
  12. 32
    “…Expression of long non-coding RNA (LncRNA) ALMS1 intronic transcript 1 (ALMS1-IT1) is observed in some cancer types, and we believe that it may have the potential to serve as a marker of COAD. …”
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    LncRNA ALMS1-IT1 is a novel prognostic biomarker and correlated with immune infiltrates in colon adenocarcinoma
  13. 33
    “…Background: ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). …”
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    Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity
  14. 34
    “…In addition, our results indicate that the ALMS1 variants identified in the Sphynx breed might not be Sphynx-specific. …”
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    Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan
  15. 35
    “…After examining the data, we focus on two compound heterozygous mutations, (c.3902C > A, p.S1301X; c.6436C > T, p.R2146X) in ALMS1, which are shared by two siblings. CONCLUSION: We reported a novel ALMS1 mutation. …”
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    Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome
  16. 36
    “…This work describes a SFP event linked to the consumption of alm cheese and involved three people belonging to the same family. …”
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    Investigation and Follow-Up of a Staphylococcal Food Poisoning Outbreak Linked to the Consumption of Traditional Hand-Crafted Alm Cheese
  17. 37
    “…OBSERVATIONS: A six-year-old girl with a diagnosis of Alström syndrome based on a homozygous nonsense likely pathogenic variant in ALMS1 (NM_015120.4:c.4746C > G; p.Tyr1582Ter) was seen in the ophthalmology clinic for nystagmus, photophobia, and poor vision with non-recordable scotopic and photopic electroretinography (ERG) responses. …”
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    Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)
  18. 38
    “…METHODS: Data from the Aspreva Lupus Management Study (ALMS) trial cohort was used to identify baseline predictors of response at 6 months. …”
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    Predictors of treatment response in a lupus nephritis population: lessons from the Aspreva Lupus Management Study (ALMS) trial
  19. 39
    “…However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alström syndrome. …”
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    Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
  20. 40
    “…PURPOSE: To evaluate the therapeutic benefit of a novel peptide, ALM201, in ocular pathologic vascularization. DESIGN: Experimental study in mouse, rat, and rabbit animal models. …”
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    Successful Proof-of-Concept for Topical Delivery of Novel Peptide ALM201 with Potential Usefulness for Treating Neovascular Eye Disorders
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