Yayıncı "Cell Press" Dahili Tıp Bilimleri Bölümü için listeleme
Toplam kayıt 43, listelenen: 21-40
-
Loss-Of-Function Mutations in Elmo2 Cause Intraosseous Vascular Malformation by Impeding Rac1 Signaling
(Cell Press, 2016)Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized ... -
Molecular Cytogenetic Analysis And Resequencing Of Contactin Associated Protein-Like 2 In Autism Spectrum Disorders
(Cell Press, 2008)Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology.(1) We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and ... -
Muscular Dystrophy And Neuronal Migration Disorder Caused By Mutations In A Glycosyltransferase, Pomgnt1
(Cell Press, 2001)Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein ... -
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ... -
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 ... -
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 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 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 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 Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome
(Cell Press, 2012)The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ... -
Mutations In Slc34A2 Cause Pulmonary Alveolar Microlithiasis And Are Possibly Associated With Testicular Microlithiasis
(Cell Press, 2006)Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then 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 ... -
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 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, ... -
Riboflavin-Responsive and -Non-Responsive Mutations In Fad Synthase Cause Multiple Acyl-Coa Dehydrogenase And Combined Respiratory-Chain Deficiency
(Cell Press, 2016)Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the ... -
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2P21 Results From Mutations Disrupting Either the Hinge Region or The Conserved Core Structures of Cytochrome P4501B1
(Cell Press, 1998)We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct ... -
Spectrum Of Perforin Gene Mutations In Familial Hemophagocytic Lymphohistiocytosis
(Cell Press, 2001)Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of early childhood characterized by nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes ... -
Speg Interacts With Myotubularin, And Its Deficiency Causes Centronuclear Myopathy With Dilated Cardiomyopathy
(Cell Press, 2014)Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in ... -
Spinal Muscular Atrophy Associated With Progressive Myoclonic Epilepsy Is Caused By Mutations In Asah1
(Cell Press, 2012)Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated ...
