Yayıncı "Cell Press" Cerrahi Tıp Bilimleri Bölümü için listeleme

Toplam kayıt 3, listelenen: 1-3

    • Bi-Allelic Mutations In Klhl7 Cause A Crisponi/Ciss1-Like Phenotype Associated With Early-Onset Retinitis Pigmentosa 

      Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Hoehne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; El Assy, Osama; Smit, Leo M. E.; Okur, Ilyas; Boduroglu, Koray; Utine, Gulen Eda; Kilic, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank (Cell Press, 2016)
      Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical ...

    • Cnga3 Mutations In Hereditary Cone Photoreceptor Disorders 

      Wissinger, B; Gamer, D; Jagle, H; Giorda, R; Marx, T; Mayer, S; Tippmann, S; Broghammer, M; Jurklies, B; Rosenberg, T; Jacobson, SG; Sener, EC; Tatlipinar, S; Hoyng, CB; Castellan, C; Bitoun, P; Andreasson, S; Rudolph, G; Kellner, U; Lorenz, B; Wolff, G; Verellen-Dumoulin, C; Schwartz, M; Cremers, FPM; Apfelstedt-ylla, E; Zrenner, E; Salati, R; Sharpe, LT; Kohl, S (Cell Press, 2001)
      We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the ...

    • Human Tubb3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, And Axon Guidance 

      Tischfield, Max A.; Baris, Hagit N.; Wu, Chen; Rudolph, Guenther; Van Maldergem, Lionel; He, Wei; Chan, Wai-Man; Andrews, Caroline; Demer, Joseph L.; Robertson, Richard L.; Mackey, David A.; Ruddle, Jonathan B.; Bird, Thomas D.; Gottlob, Irene; Pieh, Christina; Traboulsi, Elias I.; Pomeroy, Scott L.; Hunter, David G.; Soul, Janet S.; Newlin, Anna; Sabol, Louise J.; Doherty, Edward J.; de Uzcategui, Clara E.; de Uzcategui, Nicolas; Collins, Mary Louise Z.; Sener, Emin C.; Wabbels, Bettina; Hellebrand, Heide; Meitinger, Thomas; de Berardinis, Teresa; Magli, Adriano; Schiavi, Costantino; Pastore-Trossello, Marco; Koc, Feray; Wong, Agnes M.; Levin, Alex V.; Geraghty, Michael T.; Descartes, Maria; Flaherty, Maree; Jamieson, Robyn V.; Moller, H. U.; Meuthen, Ingo; Callen, David F.; Kerwin, Janet; Lindsay, Susan; Meindl, Alfons; Gupta, Mohan L; Jr.; Pellman, David; Engle, Elizabeth C. (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 ...