Konu "Science & Technology - Other Topics" için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 17, listelenen: 1-17
-
Allergy-Specific Phenome-Wide Association Study For Immunogenes In Turkish Children
(Nature Publishing Group, 2016)To dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma ... -
Bacteremic and Non-Bacteremic Pneumonia Caused by Acinetobacter Baumannii in Icus of South China: A Clinical and Microbiological Study
(Nature Publishing Group, 2017)Acinetobacter baumannii has been a dreadful problem for ICU physicians for a long time. Bacteremic pneumonia (BP) caused by this organism has a higher mortality compared to other organisms. Between 2012 and 2015, 86 BP and ... -
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ... -
Deciphering The Glycosylome Of Dystroglycanopathies Using Haploid Screens For Lassa Virus Entry
(Amer Assoc Advancement Science, 2013)Glycosylated alpha-dystroglycan (alpha-DG) serves as cellular entry receptor for multiple pathogens, and defects in its glycosylation cause hereditary Walker-Warburg syndrome (WWS). At least eight proteins are critical to ... -
Disruption Of A Long-Range Cis-Acting Regulator For Shh Causes Preaxial Polydactyly
(Natl Acad Sciences, 2002)Preaxial polydactyly (PPD) is a common limb malformation in human. A number of polydactylous mouse mutants indicate that misexpression of Shh is a common requirement for generating extra digits. Here we identify a translocation ... -
Dysregulation of Caldag-Gefi and Caldag-Gefii Predicts the Severity of Motor Side-Effects Induced By Anti-Parkinsonian Therapy
(Natl Acad Sciences, 2009)Voluntary movement difficulties in Parkinson's disease are initially relieved by L-DOPA therapy, but with disease progression, the repeated L-DOPA treatments can produce debilitating motor abnormalities known as L-DOPA-induced ... -
Erionite Exposure In North Dakota And Turkish Villages With Mesothelioma
(Natl Acad Sciences, 2011)Exposure to erionite, an asbestos-like mineral, causes unprecedented rates of malignant mesothelioma (MM) mortality in some Turkish villages. Erionite deposits are present in at least 12 US states. We investigated whether ... -
Evolutionarily Dynamic Alternative Splicing Of Gpr56 Regulates Regional Cerebral Cortical Patterning
(Amer Assoc Advancement Science, 2014)The human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex ... -
Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing
(Natl Acad Sciences, 2009)Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ... -
Hla-Drb1*11 And Variants Of The Mhc Class Ii Locus Are Strong Risk Factors For Systemic Juvenile Idiopathic Arthritis
(Natl Acad Sciences, 2015)Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within ... -
Human Intracellular Isg15 Prevents Interferon-Alpha/Beta Over-Amplification And Auto-Inflammation
(Nature Publishing Group, 2015)Intracellular ISG15 is an interferon (IFN)-alpha/beta-inducible ubiquitin-like modifier which can covalently bind other proteins in a process called ISGylation; it is an effector of IFN-alpha/beta-dependent antiviral ... -
Mechanism For Survival Of Homozygous Nonsense Mutations In The Tumor Suppressor Gene Brca1
(Natl Acad Sciences, 2018)BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous ... -
Mitochondrial Serine Protease Htra2 P.G399S In A Kindred With Essential Tremor And Parkinson Disease
(Natl Acad Sciences, 2014)Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the ... -
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ... -
Mutations In The Very Low-Density Lipoprotein Receptor Vldlr Cause Cerebellar Hypoplasia And Quadrupedal Locomotion In Humans
(Natl Acad Sciences, 2008)Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds ... -
Mycobacterial Disease And Impaired Ifn-Gamma Immunity In Humans With Inherited Isg15 Deficiency
(Amer Assoc Advancement Science, 2012)ISG15 is an interferon (IFN)-alpha/beta-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe human patients with ... -
Which Is The Best Intrauterine Insemination Timing Choice Following Exogenous Hcg Administration During Ovulation Induction By Using Clomiphene Citrate Treatment? A Retrospective Study
(Springer International Publishing Ag, 2016)Objective: To evaluate the impact of intrauterine insemination timing performed 24 or 36 h later following ovulation trigger on clinical pregnancy rate during ovulation induction with clomiphene citrate among infertile ...
