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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S. Callier P, et al. Among authors: guipponi m. PLoS Genet. 2014 May 1;10(5):e1004340. doi: 10.1371/journal.pgen.1004340. eCollection 2014 May. PLoS Genet. 2014. PMID: 24784881 Free PMC article.
Next generation diagnostics on cardiomyopathy.
Blouin JL, Bevillard J, Makrythanasis P, Guipponi M, Santoni F, Antonarakis SE, Fokstuen S. Blouin JL, et al. Among authors: guipponi m. Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. doi: 10.1186/1755-8166-7-S1-I4. eCollection 2014. Mol Cytogenet. 2014. PMID: 24949098 Free PMC article. No abstract available.
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
Gutierrez-Arcelus M, Ongen H, Lappalainen T, Montgomery SB, Buil A, Yurovsky A, Bryois J, Padioleau I, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Giger T, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET. Gutierrez-Arcelus M, et al. Among authors: guipponi m. PLoS Genet. 2015 Jan 29;11(1):e1004958. doi: 10.1371/journal.pgen.1004958. eCollection 2015 Jan. PLoS Genet. 2015. PMID: 25634236 Free PMC article.
HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.
Letourneau A, Cobellis G, Fort A, Santoni F, Garieri M, Falconnet E, Ribaux P, Vannier A, Guipponi M, Carninci P, Borel C, Antonarakis SE. Letourneau A, et al. Among authors: guipponi m. PLoS One. 2015 May 8;10(5):e0126475. doi: 10.1371/journal.pone.0126475. eCollection 2015. PLoS One. 2015. PMID: 25955728 Free PMC article.
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.
Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE. Sailani MR, et al. Among authors: guipponi m. PLoS One. 2015 Aug 28;10(8):e0135555. doi: 10.1371/journal.pone.0135555. eCollection 2015. PLoS One. 2015. PMID: 26317209 Free PMC article.
112 results