Yayıncı "Nature Publishing Group" Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme
Toplam kayıt 43, listelenen: 21-40
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Identification Of A Founder Mutation In Tpm3 In Nemaline Myopathy Patients Of Turkish Origin
(Nature Publishing Group, 2008)To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish families ... -
Is the Novel Sckl3 at 14Q23 the Predominant Seckel Locus?
(Nature Publishing Group, 2003)Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel ... -
Kif7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes
(Nature Publishing Group, 2011)KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ... -
Life-Threatening Neurological Complications after Bone Marrow Transplantation in Children
(Nature Publishing Group, 2005)Neurological complications may occur in BMT recipients (11-59%), frequently contributing to morbidity or mortality. They are the main causes of death in 10-15%. Life-threatening neurological complications were seen in 11 ... -
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 ... -
Mpv May Reflect Subcinical Platelet Activation In Diabetic Patients With And Without Diabetic Retinopathy
(Nature Publishing Group, 2015)Purpose To search subclinical platelet activation via detecting three important platelet activation parameters; mean platelet volume (MPV), platelet distribution width (PDW), and plateletcrit (PCT) in diabetic retinopathy ... -
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 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 The Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome And Occur In Exons 8 And 9
(Nature Publishing Group, 2006)Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. Approximately 10-25% of familial and sporadic cases are caused by mutations ... -
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 ... -
Nonimmune Hydrops Fetalis In Two Cases Of Consanguineous Parents And Associated With Hereditary Spherocytosis And Hemophagocytic Hystiocytosis
(Nature Publishing Group, 2007)Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with ... -
Novel Mutations In Alox12B In Patients With Autosomal Recessive Congenital Ichthyosis And Evidence For Genetic Heterogeneity On Chromosome 17P13
(Nature Publishing Group, 2007)We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes ... -
Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ... -
Pde3A Mutations Cause Autosomal Dominant Hypertension with Brachydactyly
(Nature Publishing Group, 2015)Cardiovascular disease is the most common cause of death worldwide, and hypertension is the major risk factor(1). Mendelian hypertension elucidates mechanisms of blood pressure regulation. Here we report six missense ... -
Poly(A)-Specific Ribonuclease (Parn) Mediates 3 '-End Maturation of the Telomerase Rna Component
(Nature Publishing Group, 2015)Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita(1,2), but how PARN deficiency impairs telomere ... -
Rasgrp1 Deficiency Causes Immunodeficiency With Impaired Cytoskeletal Dynamics
(Nature Publishing Group, 2016)RASGRP1 is an important guanine nucleotide exchange factor and activator of the RAS-MAPK pathway following T cell antigen receptor (TCR) signaling. The consequences of RASGRP1 mutations in humans are unknown. In a patient ... -
Recessive Lamc3 Mutations Cause Malformations of Occipital Cortical Development
(Nature Publishing Group, 2011)The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral ... -
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 ... -
Spectrum Of Mutations In The Fanconi Anaemia Group G Gene, Fancg/Xrcc9
(Nature Publishing Group, 2000)FANCG was the third Faconi anaemia gene identified and proved to be identical to the previously cloned XRCC9 gene. We present the pathogenic mutations and sequence variants we have so far identified in a panel of FA-C ... -
Systemically Administered Brain-Targeted Nanoparticles Transport Peptides Across the Blood-Brain Barrier and Provide Neuroprotection
(Nature Publishing Group, 2015)Although growth factors and anti-apoptotic peptides have been shown to be neuroprotective in stroke models, translation of these experimental findings to clinic is hampered by limited penetration of peptides to the brain. ...
