Skeletal overexpression of gremlin impairs bone formation and causes osteopeniaElisabetta Gazzerro
Department of Research, Saint Francis Hospital and Medical Center, 114 Woodland Street, Hartford, Connecticut 06105 1299, USA
Endocrinology 146:655-65. 2005
..In conclusion, transgenic mice overexpressing gremlin in the bone microenvironment have decreased osteoblast number and function leading to osteopenia and spontaneous fractures...
- Twisted gastrulation, a bone morphogenetic protein agonist/antagonist, is not required for post-natal skeletal function
Elisabetta Gazzerro
Department of Research, Saint Francis Hospital and Medical Center, Hartford, CT 06105 1299, USA
Bone 39:1252-60. 2006
..In conclusion, endogenous Tsg is required for normal BMP activity in osteoblastic cells in vitro, but it plays a minor role in the regulation of adult bone homeostasis in vivo...
- Bone morphogenetic proteins and their antagonists
Elisabetta Gazzerro
Unit of Muscular and Neurodegenerative Disorders, Gaslini Institute, Genoa, Italy
Rev Endocr Metab Disord 7:51-65. 2006
..Both intracellular and extracellular antagonists are regulated by BMPs, indicating the existence of local feedback mechanisms to modulate BMP cellular activities...
The spectrum of GNE mutations: allelic heterogeneity for a common phenotypeMarina Grandis
Section of Neurology and Neurological Rehabilitation, Department of Neuroscience, Ophthalmology and Genetics, University of Genova, Via De Toni 5, 16132, Genoa, Italy
Neurol Sci 31:377-80. 2010
..The second patient showed a slowly progressive deterioration, different from other patients carrying mutations in the epimerase domain, who had a severe and rapid progression...
- Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
Stefania Assereto
Muscular and Neurodegenerative Disease Unit, Department of Pediatrics of University of Genova, Department of Neuroscience and Rehabilitation, G Gaslini Institute, Genoa, Italy
Cell Cycle 7:2199-207. 2008
..In conclusion, AQP4 expression and membrane localization are markedly reduced in LGMD 2B-2F. The role of AQP4 in the degenerative mechanism occurring in these diseases will be the object of our future research...
- Potential drug targets within bone morphogenetic protein signaling pathways
Elisabetta Gazzerro
Unit of Muscular and Neurodegenerative Disorders, Gaslini Institute, L go G Gaslini 5, 16148 Genoa, Italy
Curr Opin Pharmacol 7:325-33. 2007
..Both extracellular and intracellular antagonists are regulated by BMPs, indicating the existence and need for local feedback mechanisms to modulate BMP biological responses...
- Conditional deletion of gremlin causes a transient increase in bone formation and bone mass
Elisabetta Gazzerro
Department of Research, Saint Francis Hospital and Medical Center, Hartford, Connecticut 06105 1299, USA
J Biol Chem 282:31549-57. 2007
..In conclusion, deletion of grem1 in the bone microenvironment results in sensitization of BMP signaling and activity and enhanced bone formation in vivo...
- Phenotypic characterization of hypomyelination and congenital cataract
Roberta Biancheri
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Genova, Italy
Ann Neurol 62:121-7. 2007
..3-p15.3...
- Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
Federico Zara
Muscular and Neurodegenerative Disease Unit, G Gaslini Institute and University of Genova, Italy
Nat Genet 38:1111-3. 2006
..We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination...
- Notch 1 overexpression inhibits osteoblastogenesis by suppressing Wnt/beta-catenin but not bone morphogenetic protein signaling
Valerie Deregowski
Department of Research, Saint Francis Hospital and Medical Center, Hartford, Connecticut 06105 1299, USA
J Biol Chem 281:6203-10. 2006
..In conclusion, NICD overexpression prevents BMP-2 and Wnt biological effects by suppressing Wnt but not BMP signaling. HES-1 appears to mediate effects of Notch on osteoblastogenesis...
- Overexpression of twisted gastrulation inhibits bone morphogenetic protein action and prevents osteoblast cell differentiation in vitro
Elisabetta Gazzerro
Department of Research, Saint Francis Hospital and Medical Center, 114 Woodland Street, Hartford, Connecticut 06105 1299, USA
Endocrinology 146:3875-82. 2005
..In conclusion, Tsg overexpression inhibits BMP action in stromal and preosteoblastic cells and, accordingly, arrests their differentiation toward the osteoblastic pathway...
- Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors
Filomena Cetani
Dipartimento di Endocrinologia e Metabolismo, University of Pisa, Via Paradisa 2, 56124 Pisa, Italy
J Clin Endocrinol Metab 89:5583-91. 2004
..The finding that two of the seven patients with sporadic parathyroid cancer carried an HRPT2 germline mutation suggests that they might have occult HPT-JT. Our results also confirm the need for testing HRPT2 gene in FIHP families...
- Bone morphogenetic proteins, their antagonists, and the skeleton
Ernesto Canalis
Department of Research, Saint Francis Hospital and Medical Center, Hartford, Connecticut 06105, USA
Endocr Rev 24:218-35. 2003
..The antagonists tend to be specific for BMPs and are regulated by BMPs, indicating the existence and need of local feedback mechanisms to temper BMP cellular activities...
