Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2912, listelenen: 1749-1768
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Mutation In Exon 1F Of Plec, Leading To Disruption Of Plectin Isoform 1F, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
(Cell Press, 2010)Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping ... -
Mutation Spectrum Of Fumarylacetoacetase Gene And Clinical Aspects Of Tyrosinemia Type I Disease
(Springer-Verlag Berlin, 2011)Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with ... -
Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria
(Oxford Univ Press, 2003)Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with ... -
Mutations Affecting The Bhlha9 Dna-Binding Domain Cause Mssd, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Malik-Percin Type
(Cell Press, 2014)Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait ... -
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), ... -
Mutations In A Gene Encoding A Novel Sh3/Tpr Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
(Univ Chicago Press, 2003)Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited ... -
Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd
(Amer Soc Nephrology, 2014)Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted ... -
Mutations In Arfgef2 Implicate Vesicle Trafficking In Neural Progenitor Proliferation And Migration In The Human Cerebral Cortex
(Nature Publishing Group, 2004)Disruption of human neural precursor proliferation can give rise to a small brain ( microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative ... -
Mutations In Atp6V1E1 Or Atp6V1A Cause Autosomal-Recessive Cutis Laxa
(Cell Press, 2017)Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in ... -
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 ... -
Mutations In Cln7/Mfsd8 Are A Common Cause Of Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
(Oxford Univ Press, 2009)The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Although clinically rather ... -
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 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 Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis
(Oxford Univ Press, 2004)We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ... -
Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development
(Amer Soc Clinical Investigation Inc, 1999)Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We ... -
Mutations In Keops-Complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
(Nature Publishing Group, 2017)Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in ... -
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 ... -
Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms)
(Oxford Univ Press, 2008)Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ...
