Konu "Cell Biology" için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme

Toplam kayıt 9, listelenen: 1-9

    • Activation-Induced Cytidine Deaminase (AID) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (HIGM2) 

      Revy, P; Muto, T; Levy, Y; Geissmann, F; Plebani, A; Sanal, O; Catalan, N; Forveille, M; Dufourcq-Lagelouse, R; Gennery, A; Tezcan, I; Ersoy, F; Kayserili, H; Ugazio, AG; Brousse, N; Muramatsu, M; Notarangelo, LD; Kinoshita, K; Honjo, T; Fischer, A; Durandy, A (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 

      Moshous, D; Callebaut, I; de Chasseval, R; Corneo, B; Cavazzana-Calvo, M; Le Deist, F; Tezcan, I; Sanal, O; Bertrand, Y; Philippe, N; Fischer, A; de Villartay, JP (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 ...

    • Docosahexaenoic Acid Provides Protective Mechanism in Bilaterally Mptp-Lesioned Rat Model of Parkinson'S Disease 

      Hacioğlu, Gülay; Seval-Celik, Yasemin; Tanriover, Gamze; Ozsoy, Ozlem; Saka-Topcuoglu, Esen; Balkan, Sevin; Agar, Aysel (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 

      Devgan, S. S.; Sanal, O.; Doil, C.; Nakamura, K.; Nahas, S. A.; Pettijohn, K.; Bartek, J.; Lukas, C.; Lukas, J.; Gatti, R. A. (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, ...

    • Impaired Amino Acid Transport At The Blood Brain Barrier Is A Cause Of Autism Spectrum Disorder 

      Tarlungeanu, Dora C.; Deliu, Elena; Dotter, Christoph P.; Kara, Majdi; Janiesch, Philipp Christoph; Scalise, Mariafrancesca; Galluccio, Michele; Tesulov, Mateja; Morelli, Emanuela; Sonmez, Fatma Mujgan; Bilguvar, Kaya; Ohgaki, Ryuichi; Kanai, Yoshikatsu; Johansen, Anide; Esharif, Seham; Ben-Omran, Tawfeg; Topcu, Meral; Schlessinger, Avner; Indiveri, Cesare; Duncan, Kent E.; Caglayan, Ahmet Okay; Gunel, Murat; Gleeson, Joseph G.; Novarino, Gaia (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 

      Yoshida, A; Kobayashi, K; Manya, H; Taniguchi, K; Kano, H; Mizuno, M; Inazu, T; Mitsuhashi, H; Takahashi, S; Takeuchi, M; Herrmann, R; Straub, V; Talim, B; Voit, T; Tapaloglu, H; Toda, T; Endo, T (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 

      Liehr, T.; Utine, G. E.; Trautmann, U.; Rauch, A.; Kuechler, A.; Pietracz, J.; Bocian, E.; Kosyakova, N.; Mrasek, K.; Boduroglu, K.; Weise, A.; Aktas, D. (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( ...

    • Tamoxifen Increases Membrane Fluidity at High Concentrations 

      Severcan, F; Kazanci, N; Zorlu, F (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 ...

    • The Role Of Brd7 In Embryo Development And Glucose Metabolism 

      Kim, Yoo; Hernandez, Mario Andres Salazar; Herrema, Hilde; Delibasi, Tuncay; Park, Sang Won (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. ...