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Toplam kayıt 131, listelenen: 81-90
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 Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy
(Univ Chicago Press, 2002)
Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ...
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 ...
Mutations In The Gene Encoding Gap Junction Protein Alpha 12 (Connexin 46.6) Cause Pelizaeus-Merzbacher-Like Disease
(Cell Press, 2004)
The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family ...
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 ...
Pcr Based Mutation Screening of The Laminin Alpha 2 Chain Gene (Lama2): Application to Prenatal Diagnosis and Search for Founder Effects in Congenital Muscular Dystrophy
(British Med Journal Publ Group, 1998)
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha 2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based ...
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 ...