Works by Lines, Kate E.

Results: 13

Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079

By:

Stevenson, Mark;
Pagnamenta, Alistair T;
Mack, Heather G;
Savige, Judith;
Giacopuzzi, Edoardo;
Lines, Kate E;
Taylor, Jenny C;
Thakker, Rajesh V

Publication type:

Article

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

Preclinical Models of Neuroendocrine Neoplasia.

Published in:

Cancers, 2022, v. 14, n. 22, p. 5646, doi. 10.3390/cancers14225646

By:

Sedlack, Andrew J. H.;
Saleh-Anaraki, Kimia;
Kumar, Suresh;
Ear, Po Hien;
Lines, Kate E.;
Roper, Nitin;
Pacak, Karel;
Bergsland, Emily;
Quelle, Dawn E.;
Howe, James R.;
Pommier, Yves;
del Rivero, Jaydira

Publication type:

Article

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

Association of prolactin receptor (PRLR) variants with prolactinomas.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396

By:

Gorvin, Caroline M;
Newey, Paul J;
Rogers, Angela;
Stokes, Victoria;
Neville, Matt J;
Lines, Kate E;
Ntali, Georgia;
Lees, Peter;
Morrison, Patrick J;
Singhellakis, Panagiotis N;
Malandrinou, Fotini Ch;
Karavitaki, Niki;
Grossman, Ashley B;
Karpe, Fredrik;
Thakker, Rajesh V

Publication type:

Article

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

Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.

Published in:

2020

By:

Nachtigall, Lisa B;
Guarda, Francisco J;
Lines, Kate E;
Ghajar, Alireza;
Dichtel, Laura;
Mumbach, Giselle;
Zhao, Wenxiu;
Zhang, Xun;
Tritos, Nicholas A;
Swearingen, Brooke;
Miller, Karen K;
Thakker, Rajesh V

Publication type:

journal article

Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.

Published in:

2019

By:

Gorvin, Caroline M;
Stokes, Victoria J;
Boon, Hannah;
Cranston, Treena;
Glück, Anna K;
Bahl, Shailini;
Homfray, Tessa;
Aung, Theingi;
Shine, Brian;
Lines, Kate E;
Hannan, Fadil M;
Thakker, Rajesh V

Publication type:

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.

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

Molecular genetic advances in pituitary tumor development.

Published in:

Expert Review of Endocrinology & Metabolism, 2015, v. 10, n. 1, p. 35, doi. 10.1586/17446651.2015.955795

By:

Yates, Christopher J;
Lines, Kate E;
Thakker, Rajesh V

Publication type:

Article

Multiple Endocrine Neoplasia Type 1: Latest Insights.

Published in:

Endocrine Reviews, 2021, v. 42, n. 2, p. 133, doi. 10.1210/endrev/bnaa031

By:

Brandi, Maria Luisa;
Agarwal, Sunita K;
Perrier, Nancy D;
Lines, Kate E;
Valk, Gerlof D;
Thakker, Rajesh V

Publication type:

Article

mi R-135b- and mi R-146b-dependent silencing of calcium-sensing receptor expression in colorectal tumors.

Published in:

International Journal of Cancer, 2016, v. 138, n. 1, p. 137, doi. 10.1002/ijc.29681

By:

Fetahu, Irfete S.;
Tennakoon, Samawansha;
Lines, Kate E.;
Gröschel, Charlotte;
Aggarwal, Abhishek;
Mesteri, Ildiko;
Baumgartner ‐ Parzer, Sabina;
Mader, Robert M.;
Thakker, Rajesh V.;
Kállay, Enikő

Publication type:

Article

Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814

By:

Stevenson, Mark;
Pagnamenta, Alistair T.;
Reichart, Silvia;
Philpott, Charlotte;
Lines, Kate E.;
Gorvin, Caroline M.;
Lhotta, Karl;
Taylor, Jenny C.;
Thakker, Rajesh V.

Publication type:

Article