PathoGenetics

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Pub Date : 2010-02-02 DOI: 10.1186/1755-8417-3-2 Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan Pm de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, Andreas W Kuss

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.

Pub Date : 2010-01-05 DOI: 10.1186/1755-8417-3-1 Cheryl Shoubridge, May Huey Tan, Tod Fullston, Desiree Cloosterman, David Coman, George McGillivray, Grazia M Mancini, Tjitske Kleefstra, Jozef Gécz

microRNAs and genetic diseases.

Pub Date : 2009-11-04 DOI: 10.1186/1755-8417-2-7 Nicola Meola, Vincenzo Alessandro Gennarino, Sandro Banfi