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Gene|February 28, 2002
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4BAlessandra Bolino, Valeria Marigo, Francesca Ferrera, et al.
Frontiers in Immunology|August 10, 2019
Severe Heterotopic Ossification in the Skeletal Muscle and Endothelial Cells Recruitment to Chondrogenesis Are Enhanced by Monocyte/Macrophage DepletionMario Tirone, Anna Giovenzana, Arianna Vallone, et al.
Human Molecular Genetics|May 24, 2014
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variantJulia Haupt, Alexandra Deichsel, Katja Stange, et al.
The Journal of Physiology|September 19, 2012
Association of TMEM16A chloride channel overexpression with airway goblet cell metaplasiaPaolo Scudieri, Emanuela Caci, Silvia Bruno, et al.
Journal of Neurology|November 20, 2009
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxiaPia Irene Anna Rossi, Carlotta Maria Vaccari, Alessandra Terracciano, et al.
JCI Insight|February 9, 2018
Thymosin α-1 does not correct F508del-CFTR in cystic fibrosis airway epitheliaValeria Tomati, Emanuela Caci, Loretta Ferrera, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 25, 2002
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)Gian Marco Ghiggeri, Gianluca Caridi, Umberto Magrini, et al.
Bone|December 20, 2016
Phenotypic characterization of Grm1<sup>crv4</sup> mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralizationIlaria Musante, Deborah Mattinzoli, Lavinia Alexandra Otescu, et al.
International Journal of Molecular Medicine|February 3, 2007
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomaliesEmanuele Panza, Giorgio Gimelli, Mario Passalacqua, et al.
European Journal of Human Genetics : EJHG|May 17, 2007
Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genesSilvia Borghini, Marco Di Duca, Giuseppe Santamaria, et al.
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