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Toplam kayıt 15, listelenen: 1-15
Single-Nucleotide Polymorphisms On The Ryd5 Gene In Nasal Polyposis
(Mary Ann Liebert, Inc, 2015)
Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic ...
Genetic Evidence For Plasminogen As A Shared Genetic Risk Factor Of Coronary Artery Disease And Periodontitis
(Lippincott Williams & Wilkins, 2015)
Background-Genetic studies demonstrated the presence of risk alleles in the genes ANRIL and CAMTA1/VAMP3 that are shared between coronary artery disease (CAD) and periodontitis. We aimed to identify further shared genetic ...
Cobalamin C Disease Missed By Newborn Screening In A Patient With Low Carnitine Level
(Springer-Verlag Berlin, 2015)
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic ...
Crucial Role Of Posttranslational Modifications Of Integrin Alpha 3 In Interstitial Lung Disease And Nephrotic Syndrome
(Oxford Univ Press, 2015)
Interstitial lung disease, nephrotic syndrome and junctional epidermolysis bullosa is an autosomal recessive multiorgan disorder caused by mutations in the gene for the integrin alpha 3 subunit (ITGA3). The full spectrum ...
Crim1 Haploinsufficiency Causes Defects In Eye Development In Human And Mouse
(Oxford Univ Press, 2015)
Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with ...
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 ...
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 ...
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 ...
Pde3A Mutations Cause Autosomal Dominant Hypertension with Brachydactyly
(Nature Publishing Group, 2015)
Cardiovascular disease is the most common cause of death worldwide, and hypertension is the major risk factor(1). Mendelian hypertension elucidates mechanisms of blood pressure regulation. Here we report six missense ...
A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy
(Nature Publishing Group, 2015)
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonicclonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown ...
The Phenotypic And Molecular Genetic Spectrum Of Alstrom Syndrome In 44 Turkish Kindreds And A Literature Review Of Alstrom Syndrome In Turkey
(Nature Publishing Group, 2015)
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and ...
Poly(A)-Specific Ribonuclease (Parn) Mediates 3 '-End Maturation of the Telomerase Rna Component
(Nature Publishing Group, 2015)
Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita(1,2), but how PARN deficiency impairs telomere ...
The Effect of Serum and Follicular Fluid Amyloid-Associated Protein Levels on in Vitro Fertilization Outcome in Patients with Polycystic Ovary Syndrome
(Springer/Plenum Publishers, 2015)
In this study, we aimed to investigate serum and follicular fluid amyloid A protein levels in non-obese non-hyperandrogenic patients with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization (IVF) and IVF ...
An Appeal To The Global Health Community For A Tripartite Innovation: An "Essential Diagnostics List," "Health In All Policies," And "See-Through 21(St) Century Science And Ethics"
(Mary Ann Liebert, Inc, 2015)
Diagnostics spanning a wide range of new biotechnologies, including proteomics, metabolomics, and nanotechnology, are emerging as companion tests to innovative medicines. In this Opinion, we present the rationale for ...
Unraveling The Genetic Landscape Of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach
(Springer, 2015)
Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical ...