| Describe a hereditary mixed polyposis syndrome in which is characterized by SCG5-GREM1 duplication. | Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome.
Plesec T, Brown K, Allen C, A Burke C, Church J, Kalady M, LaGuardia L, O'Malley M, Heald B. | 09/2/2017 |
| FAM20C plays a role in 7B2-mediated proPC2 activation by phosphorylating residue Thr111; and that 7B2 function is regulated by alternative splicing. | Phosphorylation and Alternative Splicing of 7B2 Reduce Prohormone Convertase 2 Activation.
Ramos-Molina B, Lindberg I., Free PMC Article | 04/2/2016 |
| 7B2 chaperones blocked the cytotoxic effects of exogenous hIAPP | Blockade of islet amyloid polypeptide fibrillation and cytotoxicity by the secretory chaperones 7B2 and proSAAS.
Peinado JR, Sami F, Rajpurohit N, Lindberg I., Free PMC Article | 02/1/2014 |
| conclude that 7B2 is a natively disordered protein whose function as an antiaggregant chaperone is likely facilitated by its lack of appreciable secondary structure and tendency to form oligomers | The neuroendocrine protein 7B2 is intrinsically disordered.
Dasgupta I, Sanglas L, Enghild JJ, Lindberg I., Free PMC Article | 04/6/2013 |
| data provide insight into novel functions of 7B2 and establish this neural protein as an anti-aggregation chaperone associated with neurodegenerative disease | The neuroendocrine protein 7B2 suppresses the aggregation of neurodegenerative disease-related proteins.
Helwig M, Hoshino A, Berridge C, Lee SN, Lorenzen N, Otzen DE, Eriksen JL, Lindberg I., Free PMC Article | 03/30/2013 |
| the significant effects of SGNE1/7B2 on the growth and apoptosis of glioblastoma cells provide a first proof for a functional implication of SGNE1/7B2 inactivation in the molecular pathology of gliomas. | Frequent epigenetic inactivation of the chaperone SGNE1/7B2 in human gliomas.
Waha A, Felsberg J, Hartmann W, Hammes J, von dem Knesebeck A, Endl E, Pietsch T, Waha A. | 08/4/2012 |
| Secretogranins V assays failed to detect increased concentrations in any of the patients with neuroendocrine tumours. | Measurements of secretogranins II, III, V and proconvertases 1/3 and 2 in plasma from patients with neuroendocrine tumours.
Stridsberg M, Eriksson B, Janson ET. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA common variant in DRD3 receptor is associated with autism spectrum disorder.
de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM. Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity.
Bouatia-Naji N, Vatin V, Lecoeur C, Heude B, Proença C, Veslot J, Jouret B, Tichet J, Charpentier G, Marre M, Balkau B, Froguel P, Meyre D, Bouatia-Naji N, Vatin V, Lecoeur C, Heude B, Proença C, Veslot J, Jouret B, Tichet J, Charpentier G, Marre M, Balkau B, Froguel P, Meyre D. | 03/13/2008 |
| SGNE1 identified as a novel epigenetically silenced gene in medulloblastomas and its inactivation, as well as its inhibitory effect on tumor cell proliferation and focus formation strongly argues for a significant role in medulloblastoma development. | SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas.
Waha A, Koch A, Hartmann W, Milde U, Felsberg J, Hübner A, Mikeska T, Goodyer CG, Sörensen N, Lindberg I, Wiestler OD, Pietsch T, Waha A. | 01/21/2010 |
| SGNE1 was overexpressed in gastrointestinal peptide-independent ACTH-independent macronodular adrenal hyperplasia. hyperplasia | Gene array analysis of macronodular adrenal hyperplasia confirms clinical heterogeneity and identifies several candidate genes as molecular mediators.
Bourdeau I, Antonini SR, Lacroix A, Kirschner LS, Matyakhina L, Lorang D, Libutti SK, Stratakis CA. | 01/21/2010 |
| SGNE1 genetic variation does not contribute to obesity and common forms of Type 2 diabetes but may worsen glucose intolerance and insulin resistance, especially in the background of severe and early onset obesity | Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity.
Bouatia-Naji N, Vatin V, Lecoeur C, Heude B, Proença C, Veslot J, Jouret B, Tichet J, Charpentier G, Marre M, Balkau B, Froguel P, Meyre D, Bouatia-Naji N, Vatin V, Lecoeur C, Heude B, Proença C, Veslot J, Jouret B, Tichet J, Charpentier G, Marre M, Balkau B, Froguel P, Meyre D., Free PMC Articles: PMC1936990, PMC1936990 | 01/21/2010 |