Antonarakis SE - Search Results

1

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784

2

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR. Sertié AL, et al. Among authors: antonarakis se. Hum Mol Genet. 1996 Jun;5(6):843-7. doi: 10.1093/hmg/5.6.843. Hum Mol Genet. 1996. PMID: 8776601

3

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M. Menzel O, et al. Among authors: antonarakis se. Hum Mutat. 2004 Jan;23(1):77-84. doi: 10.1002/humu.10284. Hum Mutat. 2004. PMID: 14695535

4

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.

Merla G, Howald C, Antonarakis SE, Reymond A. Merla G, et al. Among authors: antonarakis se. Hum Mol Genet. 2004 Jul 15;13(14):1505-14. doi: 10.1093/hmg/ddh163. Epub 2004 May 26. Hum Mol Genet. 2004. PMID: 15163635

5

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development.

Menzel O, Vellai T, Takacs-Vellai K, Reymond A, Mueller F, Antonarakis SE, Guipponi M. Menzel O, et al. Among authors: antonarakis se. Genomics. 2004 Aug;84(2):320-30. doi: 10.1016/j.ygeno.2004.04.002. Genomics. 2004. PMID: 15233996

6

Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling.

Lin-Marq N, Borel C, Antonarakis SE. Lin-Marq N, et al. Among authors: antonarakis se. Mol Genet Genomics. 2005 Apr;273(2):184-96. doi: 10.1007/s00438-005-1124-y. Epub 2005 Feb 25. Mol Genet Genomics. 2005. PMID: 15731909

7

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.

Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE. Wattenhofer M, et al. Among authors: antonarakis se. Hum Mutat. 2005 Jun;25(6):543-9. doi: 10.1002/humu.20172. Hum Mutat. 2005. PMID: 15880785

8

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes.

Deutsch S, Lyle R, Dermitzakis ET, Attar H, Subrahmanyan L, Gehrig C, Parand L, Gagnebin M, Rougemont J, Jongeneel CV, Antonarakis SE. Deutsch S, et al. Among authors: antonarakis se. Hum Mol Genet. 2005 Dec 1;14(23):3741-9. doi: 10.1093/hmg/ddi404. Epub 2005 Oct 26. Hum Mol Genet. 2005. PMID: 16251198

9

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.

Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Prandini P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):252-63. doi: 10.1086/519248. Epub 2007 Jun 20. Am J Hum Genet. 2007. PMID: 17668376 Free PMC article.

10

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.

Sethupathy P, Borel C, Gagnebin M, Grant GR, Deutsch S, Elton TS, Hatzigeorgiou AG, Antonarakis SE. Sethupathy P, et al. Among authors: antonarakis se. Am J Hum Genet. 2007 Aug;81(2):405-13. doi: 10.1086/519979. Epub 2007 Jul 12. Am J Hum Genet. 2007. PMID: 17668390 Free PMC article.

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