PMC Links for Protein (Select 6094293) - PMC

Select item 41011871.

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

Ute Hehr, Daniel E. Pineda-Alvarez, Goekhan Uyanik, Ping Hu, Nan Zhou, Andreas Hehr, Chayim Schell-Apacik, Carola Altus, Cornelia Daumer-Haas, Annechristin Meiner, Peter Steuernagel, Erich Roessler, Juergen Winkler, Maximilian Muenke

Hum Genet. Author manuscript; available in PMC 2014 Jul 17.

Published in final edited form as: Hum Genet. 2010 Mar; 127(5): 555–561. Published online 2010 Feb 16. doi: 10.1007/s00439-010-0797-4

PMCID:: PMC4101187

Abstract Article PDF–332K

Select item 36061362.

Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development

Carles Gaston-Massuet, Cynthia L. Andoniadou, Massimo Signore, Ezat Sajedi, Sophie Bird, James M.A. Turner, Juan Pedro Martinez-Barbera

Dev Biol. Author manuscript; available in PMC 2013 Mar 22.

Published in final edited form as: Dev Biol. 2008 Dec 15; 324(2): 322–333. Published online 2008 Aug 18. doi: 10.1016/j.ydbio.2008.08.008

PMCID:: PMC3606136

Abstract Article PDF–3.6M

Select item 29874133.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Aimée DC Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, Matteus K M Spee, Alexander P A Stegmann, Grazia M Mancini, Alice S Brooks, Margriet Collée, Anneke Maat-Kievit, Marleen E H Simon, Yolande van Bever, Irene Stolte-Dijkstra, Wilhelmina S Kerstjens-Frederikse, Johanna C Herkert, Anthonie J van Essen, Klaske D Lichtenbelt, Arie van Haeringen, Mei L Kwee, Augusta M A Lachmeijer, Gita M B Tan-Sindhunata, Merel C van Maarle, Yvonne H J M Arens, Eric E J G L Smeets, Christine E de Die-Smulders, John J M Engelen, Hubertus J Smeets, Jos Herbergs

Eur J Hum Genet. 2010 Sep; 18(9): 999–1005. Published online 2010 Jun 9. doi: 10.1038/ejhg.2010.70

PMCID:: PMC2987413

Abstract Article PDF–463K

Select item 27338084.

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Sabina Domené, Erich Roessler, Kenia B. El-Jaick, Mirit Snir, Jamie L. Brown, Jorge I. Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, Benjamin Feldman

Hum Mol Genet. 2008 Dec 15; 17(24): 3919–3928. Published online 2008 Sep 12. doi: 10.1093/hmg/ddn294

PMCID:: PMC2733808

Abstract Article PDF–818K

Select item 59657155.

Quantitative proteomic analysis identifies proteins and pathways related to neuronal development in differentiated SH-SY5Y neuroblastoma cells

Jimmy Rodriguez Murillo, Livia Goto-Silva, Aniel Sánchez, Fábio C.S. Nogueira, Gilberto B. Domont, Magno Junqueira

EuPA Open Proteom. 2017 Sep; 16: 1–11. Published online 2017 Jun 23. doi: 10.1016/j.euprot.2017.06.001

PMCID:: PMC5965715

Abstract Article PDF–1.4M

Select item 46953266.

Priorities and trends in the study of proteins in eye research, 1924–2014

Richard D. Semba, Maggie Lam, Kai Sun, Pingbo Zhang, Debra A. Schaumberg, Luigi Ferrucci, Peipei Ping, Jennifer E. Van Eyk

Proteomics Clin Appl. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Proteomics Clin Appl. 2015 Dec; 9(0): 1105–1122. Published online 2015 Sep 16. doi: 10.1002/prca.201500006

PMCID:: PMC4695326

Abstract Article PDF–1.7M

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