Ara
Toplam kayıt 84, listelenen: 51-60
Mutations In Cspp1 Cause Primary Cilia Abnormalities And Joubert Syndrome With Or Without Jeune Asphyxiating Thoracic Dystrophy
(Cell Press, 2014)
Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 ...
Mutations In The Tgf Beta Binding-Protein-Like Domain 5 Of Fbn1 Are Responsible For Acromicric And Geleophysic Dysplasias
(Cell Press, 2011)
Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although All has an unknown molecular basis, ...
Mutations In The Gene Encoding The Rer Protein Fkbp65 Cause Autosomal-Recessive Osteogenesis Imperfecta
(Cell Press, 2010)
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of ...
Mutations In Vipar Cause An Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Phenotype With Defects In Epithelial Polarization
(Nature Publishing Group, 2010)
Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC. We identified ...
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 ...
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV
(Springer-Verlag Berlin, 2014)
Human chitinolytic enzyme named "chitotriosidase" takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients ...
Regulatory T Cells And Immune Regulation Of Allergic Diseases: Roles Of Il-10 And Tgf-Beta
(Nature Publishing Group, 2014)
The prevalence of allergic diseases has significantly increased in industrialized countries. Allergen-specific immunotherapy (AIT) remains as the only curative treatment. The knowledge about the mechanisms underlying healthy ...
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 ...
Missense Mutation In The Atpase, Aminophospholipid Transporter Protein Atp8A2 Is Associated With Cerebellar Atrophy And Quadrupedal Locomotion
(Nature Publishing Group, 2013)
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...
Mutations In B3Galnt2 Cause Congenital Muscular Dystrophy And Hypoglycosylation Of Alpha-Dystroglycan
(Cell Press, 2013)
Mutations in several known or putative glycosyltransferases cause glycosylation defects in alpha-dystroglycan (alpha-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ...