Thilini H Gamage
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Explore the profile of Thilini H Gamage including associated specialties, affiliations and a list of published articles.
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6
Citations
27
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Recent Articles
1.
Gamage T, Grabmayr H, Horvath F, Fahrner M, Misceo D, Louch W, et al.
Sci Signal
. 2023 Feb;
16(771):eadd0509.
PMID: 36749824
Stormorken syndrome is a multiorgan hereditary disease caused by dysfunction of the endoplasmic reticulum (ER) Ca sensor protein STIM1, which forms the Ca release-activated Ca (CRAC) channel together with the...
2.
Sumathipala D, Misceo D, Larsen S, Baroy T, Gamage T, Frengen E, et al.
Clin Dysmorphol
. 2020 Jan;
29(2):107-110.
PMID: 31929336
No abstract available.
3.
Gamage T, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland J, et al.
Cell Calcium
. 2019 Dec;
85:102110.
PMID: 31785581
Calcium signaling plays a central role in bone development and homeostasis. Store operated calcium entry (SOCE) is an important calcium influx pathway mediated by calcium release activated calcium (CRAC) channels...
4.
Gamage T, Gunnes G, Lee R, Louch W, Holmgren A, Bruton J, et al.
Cell Calcium
. 2018 Nov;
76:87-100.
PMID: 30390422
STIM1 and ORAI1 regulate store-operated Ca entry (SOCE) in most cell types, and mutations in these proteins have deleterious and diverse effects. We established a mouse line expressing the STIM1...
5.
Gamage T, Misceo D, Fannemel M, Frengen E
Eur J Med Genet
. 2013 May;
56(7):361-4.
PMID: 23664928
We report a 14 year old male patient ascertained for developmental delay, carrying a de novo pericentric inversion on chr(7)(p14.3q22.3). Sequencing revealed that the breakpoints overlap a LTR sequence on...
6.
Gamage T, Godapitiya I, Nanayakkara S, Jayasekara R, Dissanayake V
Indian J Hum Genet
. 2012 Jul;
18(1):130-3.
PMID: 22754240
In this case report we describe a child with a de novo deletion in the (q11.2q13) region of chromosome 14. The child presented with dysmorphic features - anophthalmia, microcephaly, and...