Konu "Cell Biology" için Tıp Fakültesi listeleme
Toplam kayıt 16, listelenen: 1-16
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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (HIGM2)
(Cell Press, 2000)The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in ... -
Artemis, A Novel Dna Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated In Human Severe Combined Immune Deficiency
(Cell Press, 2001)The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ... -
Auricular Cartilage Repair Using Cryogel Scaffolds Loaded With Bmp-7-Expressing Primary Chondrocytes
(Wiley, 2013)The loss of cartilage tissue due to trauma, tumour surgery or congenital defects, such as microtia and anotia, is one of the major concerns in head and neck surgery. Recently tissue-engineering approaches, including gene ... -
Cpg Methylation In The Fhit Regulatory Region: Relation To Fhit Expression In Murine Tumors
(Nature Publishing Group, 2004)To determine if: (1) 5' CpG island methylation is related to Fhit inactivation; (2) there are tumor or carcinogen-specific methylation patterns, we examined 35 CpG sites in the promoter, exon and intron 1 of the mouse Fhit ... -
Docosahexaenoic Acid Provides Protective Mechanism in Bilaterally Mptp-Lesioned Rat Model of Parkinson'S Disease
(Via Medica, 2012)Docosahexaenoic acid (DHA), a major polyunsaturated fatty acid (PUFA) in the phospholipid fraction of the brain, is essential for normal cellular function. Neurodegenerative disorders such as Parkinson's disease (PD) often ... -
Homozygous Deficiency Of Ubiquitin-Ligase Ring-Finger Protein Rnf168 Mimics The Radiosensitivity Syndrome Of Ataxia-Telangiectasia
(Nature Publishing Group, 2011)Maintaining genomic integrity is critical to avoid life-threatening disorders, such as premature aging, neurodegeneration and cancer. A multiprotein cascade operates at sites of DNA double-strand breaks (DSBs) to recognize, ... -
Human Tubb3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, And Axon Guidance
(Cell Press, 2010)We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation ... -
Impaired Amino Acid Transport At The Blood Brain Barrier Is A Cause Of Autism Spectrum Disorder
(Cell Press, 2016)Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurological conditions. We previously described abnormalities in the branched-chain amino acid (BCAA) catabolic pathway as a ... -
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 ... -
Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature
(Karger, 2007)Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ... -
Single-Nucleotide Polymorphisms On The Ryd5 Gene In Nasal Polyposis
(Mary Ann Liebert, Inc, 2015)Nasal polyposis (NP) is a chronic inflammatory disease. Several genes play major roles in the pathophysiology of the disease. We analyzed RYD5 gene polymorphisms to determine the effect of these variants or their genetic ... -
Tamoxifen Increases Membrane Fluidity at High Concentrations
(Kluwer Academic/Plenum Publ, 2000)There are contradictory results in the literature relating to the effect of tamoxifen on membrane fluidity. The present work investigates the effect of tamoxifen on membrane dynamics to find out whether the concentration ... -
Targeting Critical Steps of Cancer Metastasis and Recurrence Using Telomerase Template Antagonists
(Elsevier Science Bv, 2009)Metastasis, tumor relapse, and drug resistance remain major obstacles in the treatment of cancer. Therefore, more research on the mechanisms of these processes in disease is warranted for improved treatment options. Recent ... -
Targeting Novel Antigens in the Arterial Wall in Thromboangiitis Obliterans
(Via Medica, 2010)Thromboangiitis obliterans is an inflammatory disease possibly resulting from cigarette smoking as a primary etiologic factor, perhaps as a delayed type of hypersensitivity or toxic angiitis. As little is known about the ... -
The Cell as a Membranous Network Under Microscope
(Univ Tokyo Cytologia, 1980) -
The Role Of Brd7 In Embryo Development And Glucose Metabolism
(Wiley, 2016)Bromodomain-containing protein 7 (BRD7) is a member of bromodomain-containing protein family and its function has been implicated in several diseases. We have previously shown that BRD7 plays a role in metabolic processes. ...
