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  • 1-10 ل  33 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Subject : molecular biology
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Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

Subjects: STIM1; mouse model; [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]

  • Source: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 6968International Journal of Molecular Sciences

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The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis

Subjects: lymphoblasts; [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology; ALS

  • Source: International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5694International Journal of Molecular Sciences

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Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

Subjects: 0301 basic medicine; Male; Candidate gene

  • Source: International Journal of Molecular SciencesVolume 22Issue 15International Journal of Molecular Sciences, 2021, 22 (15),

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Deciphering the Molecular Mechanism of Incurable Muscle Disease by a Novel Method for the Interpretation of miRNA Dysregulation

Subjects: Duchenne muscular dystrophy; [SDV.BIO]Life Sciences [q-bio]/Biotechnology; cholesterol

  • Source: Non-Coding RNANon-Coding RNA, 2022, 8 (4), pp.48. ⟨10.3390/ncrna8040048⟩

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The meaning of significant mean group differences for biomarker discovery

Subjects: Pervasive Developmental Disorders; Autism Spectrum Disorder; Autism

  • Source: PLoS Computational BiologyPlos Computational Biology, 17PLoS Computational Biology, 2021, 17 (11), pp.e1009477. ⟨10.1371/journal.pcbi.1009477⟩PLOS Computational BiologyPLoS

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The complex pattern of genetic associations of leprosy with HLA class I and class II alleles can be reduced to four amino acid positions

Subjects: Male; Bacterial Diseases; Heredity

  • Source: PLoS Pathogens, Vol 16, Iss 8, p e1008818 (2020)PLoS PathogensPLoS Pathogens, Public Library of Science, 2020, 16 (8), pp.e1008818. ⟨10.1371/journal.ppat.1008818⟩

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DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

Subjects: 0301 basic medicine; musculoskeletal diseases; congenital, hereditary, and neonatal diseases and abnormalities

  • Source: International Journal of Molecular Sciences, Vol 21, Iss 2, p 457 (2020)International Journal of Molecular Sciences

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Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

Subjects: Myotubularin; Review; [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]

  • Source: International Journal of Molecular SciencesInternational Journal of Molecular Sciences, 2021, 22 (21), pp.11377.

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Genetic effects on the commensal microbiota in inflammatory bowel disease patients

Subjects: Male; Cancer Research; Economics

  • Source: PLoS GeneticsPLoS Genetics, 2019, 15 (3), pp.e1008018. ⟨10.1371/journal.pgen.1008018⟩PLoS

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First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene

Subjects: TDP-43; Duchenne muscular dystrophy; RNA-binding protein

  • Source: International Journal of Molecular SciencesInternational Journal of Molecular Sciences, MDPI, 2020, 21 (20), pp.7803.

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  • 1-10 ل  33 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""