Hübner CA - Search Results

1

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: hubner ca. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.

2

Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

Boettger T, Hübner CA, Maier H, Rust MB, Beck FX, Jentsch TJ. Boettger T, et al. Among authors: hubner ca. Nature. 2002 Apr 25;416(6883):874-8. doi: 10.1038/416874a. Nature. 2002. PMID: 11976689

3

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A. Hübner CA, et al. Hum Mutat. 2004 May;23(5):526. doi: 10.1002/humu.9242. Hum Mutat. 2004. PMID: 15108295

4

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Among authors: hubner ca. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

5

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Hübner CA, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A. Hübner CA, et al. Hum Mutat. 2005 Mar;25(3):321-2. doi: 10.1002/humu.9314. Hum Mutat. 2005. PMID: 15712223

6

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.

Hübner CA, Senning A, Orth U, Zerres K, Urbach H, Gal A, Rudnik-Schöneborn S. Hübner CA, et al. Neuroscience. 2005;132(3):697-701. doi: 10.1016/j.neuroscience.2005.01.042. Neuroscience. 2005. PMID: 15837131

7

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hübner CA. Kurth I, et al. Among authors: hubner ca. Biochem J. 2006 Jan 1;393(Pt 1):277-83. doi: 10.1042/BJ20051094. Biochem J. 2006. PMID: 16159312 Free PMC article.

8

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Thompson DA, et al. Among authors: hubner ca. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3. Hum Mol Genet. 2005. PMID: 16269441

9

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.

Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch TJ, Gal A, Hübner CA. Hentschke M, et al. Among authors: hubner ca. Mol Cell Biol. 2006 Jan;26(1):182-91. doi: 10.1128/MCB.26.1.182-191.2006. Mol Cell Biol. 2006. PMID: 16354689 Free PMC article.

10

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

Hentschke M, Kurth I, Borgmeyer U, Hübner CA. Hentschke M, et al. Among authors: hubner ca. J Biol Chem. 2006 Nov 3;281(44):33497-504. doi: 10.1074/jbc.M606975200. Epub 2006 Sep 5. J Biol Chem. 2006. PMID: 16954206 Free article.

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