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Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1
(Cell Press, 2012)
Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ...
Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy
(Cell Press, 2014)
Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ...
Dynamic Phosphometabolomic Profiling of Human Tissues and Transgenic Models By O-18-Assisted P-31 Nmr and Mass Spectrometry
(Amer Physiological Soc, 2012)
Next-generation screening of disease-related metabolomic phenotypes requires monitoring of both metabolite levels and turnover rates. Stable isotope O-18-assisted P-31 nuclear magnetic resonance (NMR) and mass spectrometry ...
Relationships Between the Htas2R38 Genetype, Food Choice, and Anthropometric Variables in Normal-Weighted and Overweight Adults
(Serbian Genetics Soc, 2013)
Aim: Taste is a major determinant of food choice; however, there is a great lack of knowledge about how taste perception affects human nutrition. Bitter taste perception presents unique opportunities for investigating this ...
Exonic Versus Intronic Snps: Contrasting Roles In Revealing The Population Genetic Differentiation Of A Widespread Bird Species
(Nature Publishing Group, 2015)
Recent years have seen considerable progress in applying single nucleotide polymorphisms (SNPs) to population genetics studies. However, relatively few have attempted to use them to study the genetic differentiation of ...
Mutations In Emp2 Cause Childhood-Onset Nephrotic Syndrome
(Cell Press, 2014)
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative ...
Background Mutational Features of the Radiation-Resistant Bacterium Deinococcus Radiodurans
(Oxford Univ Press, 2015)
Deinococcus bacteria are extremely resistant to radiation, oxidation, and desiccation. Resilience to these factors has been suggested to be due to enhanced damage prevention and repair mechanisms, as well as highly efficient ...
Variants In The Oxidoreductase Pyroxd1 Cause Early-Onset Myopathy With Internalized Nuclei And Myofibrillar Disorganization
(Cell Press, 2016)
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing ...
Joubert Syndrome: A Model for Untangling Recessive Disorders with Extreme Genetic Heterogeneity
(Bmj Publishing Group, 2015)
Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain ...
Mutations In 3 Genes (Mks3, Cc2D2A And Rpgrip1L) Cause Coach Syndrome (Joubert Syndrome With Congenital Hepatic Fibrosis)
(B M J Publishing Group, 2010)
Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), ...