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Mostrando 101 - 120 Resultados de 3,173 Para Buscar '"ALMS"', tiempo de consulta: 0.32s Limitar resultados
  1. 101
    “…Homozygous Alms1-mutant mice have increased cardiomyocyte proliferation at two weeks postnatal compared to wild-type littermates. …”
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    Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes
  2. 102
    “…METHODS: In all, 84 samples of junctional melanocytic nevi (JMN, n = 12), primary ALMs (n = 39) and inguinal lymph node metastasis (ILNM, n = 23) from ALMs were evaluated for the immunohistochemical expression of OPN3. …”
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    Expression of OPN3 in acral lentiginous melanoma and its associated with clinicohistopathologic features and prognosis
  3. 103
    “…OBJECTIVE: Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. …”
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    Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy
  4. 104
    “…BRAF V600 mutations were more frequent in late-stage ALMs than in early-stage ALMs. Superficial spreading melanomas had similar mutation rates at all stages. …”
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    BRAF V600 mutations and pathological features in Japanese melanoma patients
  5. 105
    “…Concentrations of these metabolites were reduced in ALMS/BBS patients by 38% (p = 0.0004), 35% (p = 0.0008), and 28% (p = 0.0005), respectively. …”
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    Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet–Biedl Syndromes
  6. 106
    “…ALMS1 loss enhanced cellular migration in patient fibroblasts as well as neonatal cardiac fibroblasts, while ALMS1-depleted cardiomyocytes exhibited enhanced proliferation activity. …”
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    Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
  7. 107
    “…Alström syndrome (ALMS) and Bardet–Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. …”
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    Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes
  8. 108
    “…Thirty genes were targeted in total including the 16 BBS genes, the 12 known NPHP genes, the single ALMS gene ALMS1 and the proposed modifier CCDC28B. …”
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    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
  9. 109
    “…With an interest in increasing throughput, we explored automation with flatbed scanner-based Automated Lifespan Machines (ALMs). We used ALMs to measure survivorship of 22 Caenorhabditis strains spanning three species. …”
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    Automated lifespan determination across Caenorhabditis strains and species reveals assay-specific effects of chemical interventions
  10. 110
    “…Recently, we have shown that ALMS1 has been the target of recent positive selection acting on standing variation in Eurasian populations. …”
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    Clusters of Adaptive Evolution in the Human Genome
  11. 111
    “…Confirmation of clinical suspicion by genetic analysis has been diriment in this case, since only a single gene is known to cause ALMS.…”
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    Syndromic obesity: clinical implications of a correct diagnosis
  12. 112
    “…The single‐gene genetic analysis revealed an ALMS1 gene mutation. A diagnosis of ALMS was reached for meeting one major and four minor criteria.…”
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    A child resides within a young adult: The first reported case of Alström syndrome in Bangladesh
  13. 113
    “…Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing. …”
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    Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
  14. 114
    “…BACKGROUND: Alström syndrome (ALMS) is a rare ciliopathy characterised by early onset insulin resistance, obesity, and dyslipidaemia and is a model for diseases that have huge social, health and economic impact. …”
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    Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis
  15. 115
    “…About 500 individuals with Alström syndrome are known worldwide. ALMS1 is widely expressed and localizes to centrosomes and to the base of cilia. …”
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    Cilia, Alström Syndrome – molecular mechanisms and therapeutic perspectives
  16. 116
    “…These had changed with sharply reduced contacts with neighbours and other providers of alms. The parents had more frequent telephone contact with their sons, and encouraged them to continue their studies. …”
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    Impact of the COVID-19 pandemic on the life of Bissau-Guinean religious (Quranic) schoolboys during a state of emergency: a qualitative study
  17. 117
    “…MMP9, TLR4, STAT3, CCR1 and ALMS1 were regulated by miR-21-5p, whereas RAC1 was regulated by miR-30c-5p. …”
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    Genes associated with inflammation and the cell cycle may serve as biomarkers for the diagnosis and prognosis of acute myocardial infarction in a Chinese population
  18. 118
    “…Validation and segregation of ALMS1 variants were confirmed by Sanger sequencing. …”
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    A very early diagnosis of Alstrӧm syndrome by next generation sequencing
  19. 119
    “…BACKGROUND: The incidence of acral lentiginous melanoma (ALM) in the white population is low. Dermoscopy enhances diagnosis of ALM; however, diagnostic accuracy may sometimes be poor due to the considerable proportion of amelanotic ALM variants. …”
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    Acral lentiginous melanoma in the Turkish population and a new dermoscopic clue for the diagnosis
  20. 120
    “…Anisotropic lattice microstructures (ALMs) significantly facilitate the efficient use of constitutive properties of materials. …”
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    Topology Optimization for Hybrid Lattice Compliant Mechanisms with Multiple Microstructures
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