Kispert A - Search Results

1

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.

Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A. Lausch E, et al. Among authors: kispert a. Am J Hum Genet. 2008 Nov;83(5):649-55. doi: 10.1016/j.ajhg.2008.10.011. Am J Hum Genet. 2008. PMID: 19068278 Free PMC article.

2

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H. Olbrich H, et al. Among authors: kispert a. Nat Genet. 2002 Feb;30(2):143-4. doi: 10.1038/ng817. Epub 2002 Jan 14. Nat Genet. 2002. PMID: 11788826

3

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H. Olbrich H, et al. Among authors: kispert a. Nat Genet. 2003 Aug;34(4):455-9. doi: 10.1038/ng1216. Nat Genet. 2003. PMID: 12872122

4

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Sass JO, et al. Among authors: kispert a. Am J Hum Genet. 2006 Mar;78(3):401-9. doi: 10.1086/500563. Epub 2006 Jan 18. Am J Hum Genet. 2006. PMID: 16465618 Free PMC article.

5

Sox9 is required for notochord maintenance in mice.

Barrionuevo F, Taketo MM, Scherer G, Kispert A. Barrionuevo F, et al. Among authors: kispert a. Dev Biol. 2006 Jul 1;295(1):128-40. doi: 10.1016/j.ydbio.2006.03.014. Epub 2006 May 6. Dev Biol. 2006. PMID: 16678811 Free article.

6

Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors.

Farin HF, Bussen M, Schmidt MK, Singh MK, Schuster-Gossler K, Kispert A. Farin HF, et al. Among authors: kispert a. J Biol Chem. 2007 Aug 31;282(35):25748-59. doi: 10.1074/jbc.M703724200. Epub 2007 Jun 21. J Biol Chem. 2007. PMID: 17584735 Free article.

7

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H. Bergmann C, et al. Among authors: kispert a. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371931 Free PMC article.

8

T-box protein Tbx18 interacts with the paired box protein Pax3 in the development of the paraxial mesoderm.

Farin HF, Mansouri A, Petry M, Kispert A. Farin HF, et al. Among authors: kispert a. J Biol Chem. 2008 Sep 12;283(37):25372-25380. doi: 10.1074/jbc.M802723200. Epub 2008 Jul 21. J Biol Chem. 2008. PMID: 18644785 Free article.

9

Tbx20 interacts with smads to confine tbx2 expression to the atrioventricular canal.

Singh R, Horsthuis T, Farin HF, Grieskamp T, Norden J, Petry M, Wakker V, Moorman AF, Christoffels VM, Kispert A. Singh R, et al. Among authors: kispert a. Circ Res. 2009 Aug 28;105(5):442-52. doi: 10.1161/CIRCRESAHA.109.196063. Epub 2009 Aug 6. Circ Res. 2009. PMID: 19661464

10

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H. Loges NT, et al. Among authors: kispert a. Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018. Am J Hum Genet. 2009. PMID: 19944400 Free PMC article.

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