Search

Now showing items 1-7 of 7

Background Mutational Features of the Radiation-Resistant Bacterium Deinococcus Radiodurans

Long, Hongan; Kucukyildirim, Sibel; Sung, Way; Williams, Emily; Lee, Heewook; Ackerman, Matthew; Doak, Thomas G.; Tang, Haixu; Lynch, Michael (Oxford Univ Press, 2015)

Deinococcus bacteria are extremely resistant to radiation, oxidation, and desiccation. Resilience to these factors has been suggested to be due to enhanced damage prevention and repair mechanisms, as well as highly efficient ...

Mutation Screening Of Patients With Leber Congenital Amaurosis Or The Enhanced S-Cone Syndrome Reveals A Lack Of Sequence Variations In The Nrl Gene

Acar, C; Mears, A; Yashar, B; Maheshwary, A; Andreasson, S; Baldi, A; Sieving, P; Iannaccone, A; Musarella, M; Jacobson, S; Swaroop, A (Molecular Vision, 2003)

Purpose: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Methods: Genomic DNA was isolated from blood ...

Mutational Screening Of Cyp1B1 In Turkish Pcg Families And Functional Analyses Of Newly Detected Mutations

Bagiyeva, Sefayet; Marfany, Gemma; Gonzalez-Angulo, Olga; Gonzalez-Duarte, Roser (Molecular Vision, 2007)

Purpose: To investigate the genetic basis of primary congenital glaucoma (PCG) in a collection of Turkish patients and to assess the pathogenicity of two novel alleles Methods: Intragenic single nucleotide polymorphisms ...

The Relative Levels Of Alpha(2)-, Alpha(1)-, And Zeta-Mrna In Hb H Patients With Different Deletional And Nondeletional Alpha-Thalassemia Determinants

Smetanina, NS; Oner, CH; Baysal, E; Oner, R; Bozkurt, G; Altay, C; Gurgey, A; Gu, LH; Altay, C; Huisman, THJ (Elsevier Science Bv, 1996)

We have analyzed the alpha(2)/alpha(1)-, alpha/beta-, zeta/(alpha + zeta)-mRNA ratios in the: retic-ulocytes of 40 patients with Hb H disease. 21 patients had deletional Hb H disease (- - / - alpha), namely combinations ...

Structural And Functional Analysis Of Perforin Mutations In Association With Clinical Data Of Familial Hemophagocytic Lymphohistiocytosis Type 2 (Fhl2) Patients

An, Omer; Gursoy, Attila; Gurgey, Aytemiz; Keskin, Ozlem (Wiley, 2013)

Perforin plays a key role in the immune system via pore formation at the target cell membrane in the elimination of virus-infected and transformed cells. A vast number of observed mutations in perforin impair this mechanism ...

Structural Characterization Of A Variety Of Spider Silks From Turkey Using Different Biophysical Techniques

Ide, Semra; Bayari, Sevgi Haman; Turkes, Tuncay; Mergen, Y. Orhan; Celik, Omer; Butun, Vural; Sargon, Mustafa F.; Kocatepe, Neslihan; Kriechbaum, Manfred (Ios Press, 2011)

Various experimental methods (XRD, FTIR, SAXS, DLS and SEM) were used to investigate structures of the silk samples weaved by spiders in Turkey. Silk samples were collected from the natural habitats belonging to the spider ...

Unliganded Estrogen Receptor-Alpha Activates Transcription Of The Mammary Gland Na+/I- Symporter Gene

Alotaibi, Hani; Yaman, Ellf Cankaya; Demirpence, Ediz; Tazebay, Uygar H. (Academic Press Inc Elsevier Science, 2006)

The function of sodium iodide symporter (Na+/I- symporter, or NIS) in mammary epithelial cells is essential for the accumulation of I- in milk; the newborn's first source of I- for thyroid hormone synthesis. Furthermore ...