A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall‐Smith Syndrome
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., Bassett, J.H. Duncan, Williams, Graham R., Lines, Kate E., Piper, Michael, Wells, Sara, Teboul, Lydia, Hennekam, Raoul C., Thakker, Rajesh V.
Published in JBMR plus (01.06.2023)
Published in JBMR plus (01.06.2023)
Get full text
Journal Article
Genetic background influences tumour development in heterozygous Men1 knockout mice
Lines, Kate E, Javid, Mahsa, Reed, Anita A C, Walls, Gerard V, Stevenson, Mark, Simon, Michelle, Kooblall, Kreepa G, Piret, Sian E, Christie, Paul T, Newey, Paul J, Mallon, Ann-Marie, Thakker, Rajesh V
Published in Endocrine Connections (01.05.2020)
Published in Endocrine Connections (01.05.2020)
Get full text
Journal Article
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
Gaynor, Katherine U, Grigorieva, Irina V, Mirczuk, Samantha M, Piret, Sian E, Kooblall, Kreepa G, Stevenson, Mark, Rizzoti, Karine, Bowl, Michael R, Nesbit, M Andrew, Christie, Paul T, Fraser, William D, Hough, Tertius, Whyte, Michael P, Lovell-Badge, Robin, Thakker, Rajesh V
Published in Endocrine Connections (01.02.2020)
Published in Endocrine Connections (01.02.2020)
Get full text
Journal Article
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
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
Published in Human molecular genetics (29.05.2021)
Published in Human molecular genetics (29.05.2021)
Get full text
Journal Article
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2
Kooblall, Kreepa G, Stokes, Victoria J, Shariq, Omair A, English, Katherine A, Stevenson, Mark, Broxholme, John, Wright, Benjamin, Lockstone, Helen E, Buck, David, Grozinsky-Glasberg, Simona, Yates, Christopher J, Thakker, Rajesh V, Lines, Kate E
Published in Endocrine-related cancer (01.10.2022)
Published in Endocrine-related cancer (01.10.2022)
Get full text
Journal Article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression
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
Published in Journal of bone and mineral research (01.01.2021)
Published in Journal of bone and mineral research (01.01.2021)
Get full text
Journal Article
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor I/X (NFIX): implications for skeletal dysplasia syndromes
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
Published in JBMR plus (01.07.2024)
Published in JBMR plus (01.07.2024)
Get full text
Journal Article
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant
Lines, Kate E, Nachtigall, Lisa B, Dichtel, Laura E, Cranston, Treena, Boon, Hannah, Zhang, Xun, Kooblall, Kreepa G, Stevenson, Mark, Thakker, Rajesh V
Published in Journal of the Endocrine Society (01.11.2020)
Published in Journal of the Endocrine Society (01.11.2020)
Get full text
Journal Article
Identification of cellular retinoic acid binding protein 2 (CRABP2) as downstream target of nuclear factor 1/X (NFIX): implications for skeletal dysplasia syndromes
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
Published in JBMR plus (15.05.2024)
Published in JBMR plus (15.05.2024)
Get full text
Journal Article
Multiple Endocrine Neoplasia Type 1 Variant
Lines, Kate E, Nachtigall, Lisa B, Dichtel, Laura E, Cranston, Treena, Boon, Hannah, Zhang, Xun, Kooblall, Kreepa G, Stevenson, Mark, Thakker, Rajesh V
Published in Journal of the Endocrine Society (01.11.2020)
Published in Journal of the Endocrine Society (01.11.2020)
Get full text
Journal Article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression
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
Published in Journal of bone and mineral research (01.01.2021)
Published in Journal of bone and mineral research (01.01.2021)
Get full text
Journal Article
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant
Lines, Kate E, Nachtigall, Lisa B, Dichtel, Laura E, Cranston, Treena, Boon, Hannah, Zhang, Xun, Kooblall, Kreepa G, Stevenson, Mark, Thakker, Rajesh V
Published in Journal of the Endocrine Society (01.11.2020)
Published in Journal of the Endocrine Society (01.11.2020)
Get full text
Report