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Mostrando 41 - 60 Resultados de 3,173 Para Buscar '"ALMS"', tiempo de consulta: 0.20s Limitar resultados
  1. 41
    “…Purpose: Alström syndrome (AS) is a rare autosomal recessive disorder caused by variants of ALMS1. The objectives of this study were to describe the clinical and genetic characteristics of 19 Chinese patients with biallelic variants in ALMS1. …”
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    A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome
  2. 42
    “…ALMS is caused by mutations in the ALMS1 gene, encoding for a large protein with implicated roles in ciliary function, cellular quiescence and intracellular transport. …”
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    ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis
  3. 43
    “…Novel variants c.9894dupC (p.S3298 fs) and c.10769delC (p.T3590 fs) in ALMS1 gene were found. CONCLUSIONS: Two North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1. …”
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    A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants
  4. 44
    “…The present study identified the AS causative rare biallelic mutations in ALMS gene:T376S in exon 5 and S909* in exon 8 for family A and an R2721* in exon 10 (R2721*) for family B. …”
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    Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients
  5. 45
    “…The present study was designed to investigate the associations of Alström syndrome 1 (ALMS 1) gene in Chinese populations with early-onset coronary artery disease (CAD). …”
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    Association between ALMS 1 variants and early-onset coronary artery disease: a case–control study in Chinese population
  6. 46
    “…Whole exome sequencing of the patient's genomic DNA identified a novel frameshift mutation in exons 15 (c.10290_10291delTA, p.Lys3431Serfs(*)10) and a rare mutation in 16 (c.10823_10824delAG, p.Arg3609Alafs(*)6) of ALMS1 gene. The compound heterozygous mutations were predicted to render truncated proteins. …”
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    Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome
  7. 47
    “…RESULTS: A novel mutation (c.6151C>T in exon 8) in the Alström syndrome 1 (ALMS1) gene that causes a premature termination codon at amino acid 2051 (p.Q2051X), was identified in the homozygous state in the affected brothers and in the heterozygous state in the parents. …”
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    Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome
  8. 48
    por Letson, Hayley, Dobson, Geoffrey
    Publicado 2017
    “…Our aim was to examine the effect of small-volume 3% NaCl adenosine, lidocaine and Mg(2+) (ALM) bolus and 0.9% NaCl/ALM ‘drip’ on inflammation and coagulation in a rat model of hemorrhagic shock. …”
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    Adenosine, lidocaine and Mg(2+) (ALM) fluid therapy attenuates systemic inflammation, platelet dysfunction and coagulopathy after non-compressible truncal hemorrhage
  9. 49
    “…The results of the present study identified two compound heterozygous ALMS1 mutations in a patient with the symptoms of Alström syndrome and reported a novel ALMS1 variant which expands the spectrum of ALMS1 variants in AS.…”
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    A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review
  10. 50
    “…Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. …”
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    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
  11. 51
    “…Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease. …”
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    Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families
  12. 52
    “…Rats (n = 17) and pigs (n = 16) underwent surgical instrumentation and uncontrolled hemorrhage via liver resection, and were treated with 3% NaCl ± ALM IV bolus followed 60 min later by 4 h 0.9% NaCl ± ALM IV drip. …”
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    Changes in plasma alpha‐1 acid glycoprotein following hemorrhagic trauma: Possible role in dose differences of ALM drug therapy in rat and pig resuscitation
  13. 53
    “…Here we investigated the role of Alms1 disruption in AT expansion and insulin responsiveness in a murine model for Alström Syndrome. …”
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    GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1(GT/GT), a Mouse Model for Obesity and Insulin Resistance
  14. 54
    “…Strain ALM 1(T) is the first representative of the genus Thioalkalimicrobium whose genome sequence has been deciphered and the fourth genome sequence of a type strain of the Piscirickettsiaceae to be published. …”
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    Complete genome sequence of the haloalkaliphilic, obligately chemolithoautotrophic thiosulfate and sulfide-oxidizing γ-proteobacterium Thioalkalimicrobium cyclicum type strain ALM 1 (DSM 14477(T))
  15. 55
    “…Here, we investigated whether ALMS1‐IT1 has prognostic potential for LUAD. Bioinformatics analyses were performed to examine the expression and prognostic value of ALMS1 and AVL9 (for which gene expression is positively correlated with ALMS1‐IT1 expression in LUAD) in LUAD based on TCGA and Oncomine databases. …”
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    The lncRNA ALMS1‐IT1 may promote malignant progression of lung adenocarcinoma via AVL9‐mediated activation of the cyclin‐dependent kinase pathway
  16. 56
    “…The aim of this study was to assess the efficacy, immunogenicity and safety of two doses of aluminum hydroxide (alum) precipitated Leishmania major (Alum-ALM) mixed with BCG plus imiquimod against CVL. …”
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    Double-Blind Randomized Efficacy Field Trial of Alum Precipitated Autoclaved Leishmania major (Alum-ALM) Vaccine Mixed With BCG Plus Imiquimod Vs. Placebo Control Group
  17. 57
    por Arora, Tarun
    Publicado 2016
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    Microsoft Team Foundation server 2015 cookbook: over 80 hands-on DevOps and ALM-focused recipes for scrum teams to enable the continuous delivery of high-quality software... faster!
  18. 58
    por Girard, D, Petrovsky, N
    Publicado 2012
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    Increased insulin resistance compounded by reduced insulin sensitivity drives the "Fat Aussie" (Alms1foz/foz) model of Alström syndrome towards obesity and type 2 diabetes mellitus
  19. 59
    por Alms, Cindy, Eseonu, Chikezie I
    Publicado 2022
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    Comparative Quantification of Diffusion Tensor Tractography Using Automated Whole Brain MRI Tractography for Intracranial Tumor Surgery: Technical Note
  20. 60
    “…CONCLUSIONS: Doses up to 300 mg of ALM201 subcutaneously are feasible and well-tolerated. …”
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    A first-in-human Phase I dose-escalation trial of the novel therapeutic peptide, ALM201, demonstrates a favourable safety profile in unselected patients with ovarian cancer and other advanced solid tumours
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