Kubisch C - Search Results

1

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Among authors: kubisch c. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.

2

Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growth.

Maass A, Grohé C, Kubisch C, Wollnik B, Vetter H, Neyses L. Maass A, et al. Among authors: kubisch c. Eur Heart J. 1995 May;16 Suppl C:12-4. doi: 10.1093/eurheartj/16.suppl_c.12. Eur Heart J. 1995. PMID: 7556264

3

Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes.

Kubisch C, Wollnik B, Maass A, Meyer R, Vetter H, Neyses L. Kubisch C, et al. FEBS Lett. 1993 Nov 29;335(1):37-40. doi: 10.1016/0014-5793(93)80434-v. FEBS Lett. 1993. PMID: 8243661 Free article.

4

Hyperosmotic stress induces immediate-early gene expression in ventricular adult cardiomyocytes.

Wollnik B, Kubisch C, Maass A, Vetter H, Neyses L. Wollnik B, et al. Among authors: kubisch c. Biochem Biophys Res Commun. 1993 Jul 30;194(2):642-6. doi: 10.1006/bbrc.1993.1869. Biochem Biophys Res Commun. 1993. PMID: 8343151

5

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.

Wollnik B, Kubisch C, Steinmeyer K, Pusch M. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 May;6(5):805-11. doi: 10.1093/hmg/6.5.805. Hum Mol Genet. 1997. PMID: 9158157

6

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

Wollnik B, Schroeder BC, Kubisch C, Esperer HD, Wieacker P, Jentsch TJ. Wollnik B, et al. Among authors: kubisch c. Hum Mol Genet. 1997 Oct;6(11):1943-9. doi: 10.1093/hmg/6.11.1943. Hum Mol Genet. 1997. PMID: 9302275

7

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.

Kubisch C, Wicklein EM, Jentsch TJ. Kubisch C, et al. Hum Mutat. 1998;12(1):27-32. doi: 10.1002/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#. Hum Mutat. 1998. PMID: 9633816

8

Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis.

Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C. Kornak U, et al. Among authors: kubisch c. Hum Mol Genet. 2000 Aug 12;9(13):2059-63. doi: 10.1093/hmg/9.13.2059. Hum Mol Genet. 2000. PMID: 10942435

9

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Rohmann E, et al. Among authors: kubisch c. Nat Genet. 2006 Apr;38(4):414-7. doi: 10.1038/ng1757. Epub 2006 Feb 26. Nat Genet. 2006. PMID: 16501574

10

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.

Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: kubisch c. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389

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