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Works by Kooblall, Kreepa G.

Results: 6

1

Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.

Published in:

Journal of the Endocrine Society, 2020, v. 4, n. 11, p. 1, doi. 10.1210/jendso/bvaa142

By:

Lines, Kate E;
Nachtigall, Lisa B;
Dichtel, Laura E;
Cranston, Treena;
Boon, Hannah;
Zhang, Xun;
Kooblall, Kreepa G;
Stevenson, Mark;
Thakker, Rajesh V

Publication type:

Article

2

Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.

Published in:

Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156

By:

Kooblall, Kreepa G;
Boon, Hannah;
Cranston, Treena;
Stevenson, Mark;
Pagnamenta, Alistair T;
Rogers, Angela;
Grozinsky‐Glasberg, Simona;
Richardson, Tristan;
Flanagan, Daniel EH;
Taylor, Jenny C;
Lines, Kate E;
Thakker, Rajesh V

Publication type:

Article

3

Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 10, p. 880, doi. 10.1093/hmg/ddab076

By:

Hannan, Fadil M;
Stevenson, Mark;
Bayliss, Asha L;
Stokes, Victoria J;
Stewart, Michelle;
Kooblall, Kreepa G;
Gorvin, Caroline M;
Codner, Gemma;
Teboul, Lydia;
Wells, Sara;
Thakker, Rajesh V

Publication type:

Article

4

Calcium sensing receptor expression is downregulated in gastroenteropancreatic neuroendocrine tumours via epigenetic mechanisms.

Published in:

International Journal of Cancer, 2025, v. 156, n. 5, p. 980, doi. 10.1002/ijc.35264

By:

English, Katherine A.;
Goldsworthy, Michelle;
Willis, Brittannie;
Kooblall, Kreepa G.;
Birla, Shweta;
Selberherr, Andreas;
Stevenson, Mark;
Shariq, Omair A.;
Oberg, Ann L.;
Wang, Tony;
Carmichael, James;
Mavrommatis, Konstantinos;
Escoubet, Laure;
Thakker, Rajesh V.;
Howles, Sarah A.;
Lines, Kate E.

Publication type:

Article

5

Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes.

Published in:

JBMR Plus, 2024, v. 8, n. 7, p. 1, doi. 10.1093/jbmrpl/ziae060

By:

Kooblall, Kreepa G;
Stevenson, Mark;
Heilig, Raphael;
Stewart, Michelle;
Wright, Benjamin;
Lockstone, Helen;
Buck, David;
Fischer, Roman;
Wells, Sara;
Lines, Kate E;
Teboul, Lydia;
Hennekam, Raoul C;
Thakker, Rajesh V

Publication type:

Article

6

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome.

Published in:

JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10739

By:

Kooblall, Kreepa G.;
Stevenson, Mark;
Stewart, Michelle;
Harris, Lachlan;
Zalucki, Oressia;
Dewhurst, Hannah;
Butterfield, Natalie;
Leng, Houfu;
Hough, Tertius A.;
Ma, Da;
Siow, Bernard;
Potter, Paul;
Cox, Roger D.;
Brown, Stephen D.M.;
Horwood, Nicole;
Wright, Benjamin;
Lockstone, Helen;
Buck, David;
Vincent, Tonia L.;
Hannan, Fadil M.

Publication type:

Article