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Toplam kayıt 8, listelenen: 1-8
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
(Wiley, 2013)
IL-12R1 deficiency is an autosomal recessive disorder characterized by predisposition to recurrent and/or severe infections caused by otherwise poorly pathogenic mycobacteria and salmonella. IL-12R1 is a receptor chain of ...
Functional Analysis Of A Duplication (P.E63_D69Dup) In The Switch Ii Region Of Hras: New Aspects Of The Molecular Pathogenesis Underlying Costello Syndrome
(Oxford Univ Press, 2013)
Costello syndrome is a congenital disorder comprising a characteristic face, severe feeding difficulties, skeletal, cardiac and skin abnormalities, intellectual disability and predisposition to malignancies. It is caused ...
Mutations In Klhl40 Are A Frequent Cause Of Severe Autosomal-Recessive Nemaline Myopathy
(Cell Press, 2013)
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ...
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 ...
Novel Mutations In The Pc Gene In Patients With Type B Pyruvate Carboxylase Deficiency
(Springer-Verlag Berlin, 2013)
We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ...
Identification Of Multiple Genetic Susceptibility Loci In Takayasu Arteritis
(Cell Press, 2013)
Takayasu arteritis is a rare inflammatory disease of large arteries. The etiology of Takayasu arteritis remains poorly understood, but genetic contribution to the disease pathogenesis is supported by the genetic association ...
A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)
Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ...