15 Einträge gefunden

1. Exome sequencing in children and adolescents with rare diseases:Current situation, challenges, perspectives, Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen:Aktueller Stand, Herausforderungen, Perspektiven

   1. Scholz, Tasja
   2. Dufke, Andreas
   3. Haack, Tobias
   4. Elbracht, Miriam
   5. Eggermann, Thomas
   6. Roggia, Cristiana
   7. Riess, Olaf

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice.

   1. Leviel, Françoise
   2. Hübner, Christian
   3. Houillier, Pascal
   4. Morla, Luciana
   5. Soumaya, El Moghrabi
   6. Brideau, Gaëlle
   7. Hatim, Hassan

   2010 - Forschungsinformationssystem des UKE
3. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

   1. Kim, Hyung-Goo
   2. Ahn, Jang-Won
   3. Kurth, Ingo
   4. Ullmann, Reinhard
   5. Kim, Hyun-Taek
   6. Kulharya, Anita
   7. Ha, Kyung-Soo

   2010 - Forschungsinformationssystem des UKE
4. Missense exchanges in the TTBK2 gene mutated in SCA11.

   1. Edener, Ulf
   2. Kurth, Ingo
   3. Meiner, Annechristin
   4. Hoffmann, Frank
   5. Hübner, Christian
   6. Bernard, Veronica
   7. Gillessen-Kaesbach, Gabriele

   2009 - Forschungsinformationssystem des UKE
5. The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.

   1. Hentschke, Moritz
   2. Hentschke, Suna
   3. Borgmeyer, Uwe
   4. Hübner, Christian
   5. Kurth, Ingo

   2009 - Forschungsinformationssystem des UKE
6. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

   1. Kurth, Ingo
   2. Klopocki, Eva
   3. Stricker, Sigmar
   4. van Oosterwijk, Jolieke
   5. Vanek, Sebastian
   6. Altmann, Jens
   7. Santos, Heliosa G

   2009 - Forschungsinformationssystem des UKE
7. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

   1. Kurth, Ingo
   2. Pamminger, Torsten
   3. Hennings, J Christopher
   4. Soehendra, Désirée
   5. Huebner, Antje K
   6. Rotthier, Annelies
   7. Baets, Jonathan

   2009 - Forschungsinformationssystem des UKE
8. Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

   1. Kaufmann, Astrid
   2. Vogt, Stefanie
   3. Uhlhaas, Siegfried
   4. Stienen, Dietlinde
   5. Kurth, Ingo
   6. Hameister, Horst
   7. Mangold, Elisabeth

   2009 - Forschungsinformationssystem des UKE
9. RDH12 Activity and Effects on Retinoid Processing in the Murine Retina.

   1. Chrispell, Jared D
   2. Feathers, Kecia L
   3. Kane, Maureen A
   4. Kim, Chul Y
   5. Brooks, Matthew
   6. Khanna, Ritu
   7. Kurth, Ingo

   2009 - Forschungsinformationssystem des UKE
10. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

    1. Kim, Hyung-Goo
    2. Kurth, Ingo
    3. Lan, Fei
    4. Meliciani, Irene
    5. Wenzel, Wolfgang
    6. Eom, Soo Hyun
    7. Kang, Gil Bu

    2008 - Forschungsinformationssystem des UKE
11. Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability.

    1. Jacobs, Stefan
    2. Ruusuvuori, Eva
    3. Sipilä, Sampsa T
    4. Haapanen, Aleksi
    5. Damkier, Helle H
    6. Kurth, Ingo
    7. Hentschke, Moritz

    2008 - Forschungsinformationssystem des UKE
12. Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

    1. Kurth, Ingo
    2. Thompson, Debra A
    3. Rüther, Klaus
    4. Feathers, Kecia L
    5. Chrispell, Jared D
    6. Schroth, Jana
    7. McHenry, Christina L

    2007 - Forschungsinformationssystem des UKE
13. Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.

    1. Hentschke, Moritz
    2. Wiemann, Martin
    3. Hentschke, Suna
    4. Kurth, Ingo
    5. Hermans-Borgmeyer, Irm
    6. Seidenbecher, Thomas
    7. Jentsch, Thomas J

    2006 - Forschungsinformationssystem des UKE
14. Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

    1. Hentschke, Moritz
    2. Kurth, Ingo
    3. Borgmeyer, Uwe
    4. Hübner, Christian

    2006 - Forschungsinformationssystem des UKE
15. The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

    1. Kurth, Ingo
    2. Hentschke, Moritz
    3. Hentschke, Suna
    4. Borgmeyer, Uwe
    5. Gal, Andreas
    6. Hübner, Christian

    2006 - Forschungsinformationssystem des UKE