9 results for author:"Janssens K." in Literature citations
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| Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Rotthier A., Penno A., Rautenstrauss B., Auer-Grumbach M., Stettner G.M., Asselbergh B., Van Hoof K., Sticht H., Levy N., Timmerman V. et al. Hum. Mutat. 32:E2211-E2225(2011) · UniProtKB (1) · Mapped (3) |
| Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Rotthier A., Auer-Grumbach M., Janssens K., Baets J., Penno A., Almeida-Souza L., Van Hoof K., Jacobs A., De Vriendt E., Schlotter-Weigel B. et al. Am. J. Hum. Genet. 87:513-522(2010) · UniProtKB (1) |
| Direct detection of guidance receptor activity during border cell migration. Janssens K., Sung H.H., Rorth P. Proc. Natl. Acad. Sci. U.S.A. 107:7323-7328(2010) · Mapped (24) |
| Beta1-adrenoceptors in rat anterior pituitary may be constitutively active. Inverse agonism of CGP 20712A on basal 3',5'-cyclic adenosine 5'-monophosphate levels. Janssens K., Boussemaere M., Wagner S., Kopka K., Denef C. Endocrinology 149:2391-2402(2008) · Mapped (1) |
| The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Thys M., Schrauwen I., Vanderstraeten K., Janssens K., Dieltjens N., Van Den Bogaert K., Fransen E., Chen W., Ealy M., Claustres M. et al. Hum. Mol. Genet. 16:2021-2030(2007) · Mapped (9) |
| Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Hellemans J., Preobrazhenska O., Willaert A., Debeer P., Verdonk P.C.M., Costa T., Janssens K., Menten B., Van Roy N., Vermeulen S.J.T. et al. Nat. Genet. 36:1213-1218(2004) · UniProtKB (1) |
| A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. McGowan N.W., MacPherson H., Janssens K., Van Hul W., Frith J.C., Fraser W.D., Ralston S.H., Helfrich M.H. J. Clin. Endocrinol. Metab. 88:3321-3326(2003) · UniProtKB (1) · Mapped (8) |
| Transforming growth factor-beta-1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. Janssens K., ten Dijke P., Ralston S.H., Bergmann C., Van Hul W. J. Biol. Chem. 278:7718-7724(2003) · UniProtKB (1) · Mapped (8) |
| Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. Janssens K., Gershoni-Baruch R., Guanabens N., Migone N., Ralston S., Bonduelle M., Lissens W., Van Maldergem L., Vanhoenacker F., Verbruggen L. et al. Nat. Genet. 26:273-275(2000) · UniProtKB (1) |