Works matching AU Thakker, Rajesh V.

Results: 129

Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.

Published in:

Journal of Bone & Mineral Research, 2025, v. 40, n. 1, p. 69, doi. 10.1093/jbmr/zjae175

By:

Zhou, Wei;
van de Laarschot, Denise M;
van Rooij, Jeroen G J;
Koedam, Marijke;
Nguyen, Hanh H;
Uitterlinden, André G;
Ebeling, Peter R;
Thakker, Rajesh V;
Geusens, Piet;
van der Eerden, Bram C J;
Verkerk, Annemieke J M H;
Zillikens, M Carola

Publication type:

Article

Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1341, doi. 10.1002/humu.24052

By:

Lemos, Manuel C.;
Thakker, Rajesh V.

Publication type:

Article

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1621, doi. 10.1002/humu.23337

By:

Cardoso, Luís;
Stevenson, Mark;
Thakker, Rajesh V.

Publication type:

Article

GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 11, doi. 10.1002/humu.22696

By:

Lemos, Manuel C.;
Thakker, Rajesh V.

Publication type:

Article

Cell division cycle protein 73 homolog ( CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

Published in:

2010

By:

Newey, Paul J.;
Bowl, Michael R.;
Cranston, Treena;
Thakker, Rajesh V.

Publication type:

Other

Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

Published in:

Human Mutation, 2010, v. 31, n. 1, p. E1089, doi. 10.1002/humu.21170

By:

Turner, Jeremy J. O.;
Christie, Paul T.;
Pearce, Simon H. S.;
Turnpenny, Peter D.;
Thakker, Rajesh V.

Publication type:

Article

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 22, doi. 10.1002/humu.20605

By:

Lemos, Manuel C.;
Thakker, Rajesh V.

Publication type:

Article

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.

Published in:

2006

By:

Van Looij, Marjolein A. J.;
Meijers-Heijboer, Hanne;
Beetz, Rolf;
Thakker, Rajesh V.;
Christie, Paul T.;
Feenstra, Lou W.;
Van Zanten, Bert G. A.

Publication type:

journal article

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

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac042

By:

Elston, Marianne S;
Elajnaf, Taha;
Hannan, Fadil M;
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

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

Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.

Published in:

JBMR Plus, 2022, v. 6, n. 8, p. 1, doi. 10.1002/jbm4.10659

By:

Zhou, Wei;
Nguyen, Hanh H.;
van de Laarschot, Denise M.;
Howe, Tet Sen;
Koh, Joyce S.B.;
Milat, Frances;
van Rooij, Jeroen G.J.;
Verlouw, Joost A.M.;
van der Eerden, Bram C.J.;
Stevenson, Mark;
Thakker, Rajesh V.;
Zillikens, M. Carola;
Ebeling, Peter R.

Publication type:

Article

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.

Published in:

JBMR Plus, 2020, v. 4, n. 10, p. 1, doi. 10.1002/jbm4.10402

By:

Hannan, Fadil M;
Gorvin, Caroline M;
Babinsky, Valerie N;
Olesen, Mie K;
Stewart, Michelle;
Wells, Sara;
Cox, Roger D;
Nemeth, Edward F;
Thakker, Rajesh V

Publication type:

Article

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 442, doi. 10.1038/ejhg.2009.161

By:

Hannan, Fadil M.;
Nesbit, M. Andrew;
Turner, Jeremy J. O.;
Stacey, Joanna M.;
Cianferotti, Luisella;
Christie, Paul T.;
Conigrave, Arthur D.;
Whyte, Michael P.;
Thakker, Rajesh V.

Publication type:

Article

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Published in:

Nature Genetics, 2013, v. 45, n. 1, p. 93, doi. 10.1038/ng.2492

By:

Nesbit, M Andrew;
Hannan, Fadil M;
Howles, Sarah A;
Reed, Anita A C;
Cranston, Treena;
Thakker, Clare E;
Gregory, Lorna;
Rimmer, Andrew J;
Rust, Nigel;
Graham, Una;
Morrison, Patrick J;
Hunter, Steven J;
Whyte, Michael P;
McVean, Gil;
Buck, David;
Thakker, Rajesh V

Publication type:

Article

A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 9, p. 5386, doi. 10.1210/jc.2004-2520

By:

Lemos, Manuel C.;
Kotanko, Peter;
Christie, Paul T.;
Harding, Brian;
Javor, Theodora;
Smith, Christine;
Eastell, Richard;
Thakker, Rajesh V.

Publication type:

Article

Functional Analysis of a Novel GATA3 Mutation in a Family with the Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 4, p. 2445, doi. 10.1210/jc.2004-1969

By:

Zahirieh, Alireza;
Nesbit, M. Andrew;
Ali, Asif;
Wang, Kairong;
Ning He;
Stangou, Maria;
Bamichas, Gerasimos;
Sombolos, Kostas;
Thakker, Rajesh V.;
Pei, York

Publication type:

Article

Hyperparathyroidism-Jaw Tumor Syndrome in Roma Families from Portugal Is Due to a Founder Mutation of the HRPT2 Gene.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 4, p. 1747, doi. 10.1210/jc.2003-031016

By:

CAVACO, BRANCA M.;
GUERRA, LAURA;
BRADLEY, KARIN J.;
CARVALHO, DAVIDE;
HARDING, BRIAN;
OLIVEIRA, AMELIA;
SANTOS, MARIA-AMPARO;
SOBRINHO, LUIS G.;
THAKKER, RAJESH V.;
LEITE, VALERIANO

Publication type:

Article

Genetic Mapping Studies of Familial Juvenile Hyperuricemic Nephropathy on Chromosome 16p11-p13.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 1, p. 464, doi. 10.1210/jc.2002-021268

By:

STACEY, JOANNA M.;
TURNER, JEREMY J. O.;
HARDING, BRIAN;
NESBIT, M. ANDREW;
KOTANKO, PETER;
LHOTTA, KARL;
PUIG, JUAN G.;
TORRES, ROSA J.;
THAKKER, RAJESH V.

Publication type:

Article

Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 6, p. 2688, doi. 10.1210/jcem.87.6.8607

By:

TURNER, JEREMY J. O.;
LEOTLELA, POLOKO D.;
PANNETT, ANNA A. J.;
FORBES, SIMON A.;
DUNCAN BASSETT, J. H.;
HARDING, BRIAN;
CHRISTIE, PAUL T.;
BOWEN-JONES, DAVID;
ELLARD, SIAN;
HATTERSLEY, ANDREW;
JACKSON, CHARLES E.;
POPE, RICHARD;
QUARRELL, OLIVER W.;
TREMBATH, RICHARD;
THAKKER, RAJESH V.

Publication type:

Article

Somatic Mutations in MEN Type 1 Tumors, Consistent with the Knudson “Two-Hit” Hypothesis.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4371, doi. 10.1210/jcem.86.9.7844

By:

PANNETT, ANNA A. J.;
THAKKER, RAJESH V.

Publication type:

Article

Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 7, p. 3233, doi. 10.1210/jcem.86.7.7688

By:

CHRISTIE, PAUL T.;
CURLEY, ALAN;
NESBIT, M. ANDREW;
CHAPMAN, CYRIL;
GENET, SALLY;
HARPER, PETER S.;
KEELING, SHARON L.;
WILKIE, ANDREW O. M.;
WINTER, ROBIN M.;
THAKKER, RAJESH V.

Publication type:

Article

A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3343, doi. 10.1210/jcem.85.9.6840

By:

MUMM, STEVEN;
CHRISTIE, PAUL T.;
FINNEGAN, PATRICK;
JONES, JONATHAN;
DIXON, PETER H.;
PANNETT, ANNA A. J.;
HARDING, BRIAN;
GOTTESMAN, GARY S.;
THAKKER, RAJESH V.;
WHYTE, MICHAEL P.

Publication type:

Article

Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 10, p. 3615, doi. 10.1210/jcem.83.10.5180

By:

DIXON, PETER H.;
CHRISTIE, PAUL T.;
WOODING, CAROL;
TRUMP, DOROTHY;
GRIEFF, MARVIN;
HOLM, INGRID;
GERTNER, JOSEPH M.;
SCHMIDTKE, JORG;
SHAH, BINITA;
SHAW, NICHOLAS;
SMITH, COLIN;
TAU, CHRISTINA;
SCHLESSINGER, DAVID;
WHYTE, MICHAEL P.;
THAKKER, RAJESH V.

Publication type:

Article

Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.

Published in:

2022

By:

Howles, Sarah A.;
Wiberg, Akira;
Goldsworthy, Michelle;
Bayliss, Asha L.;
Gluck, Anna K.;
Ng, Michael;
Grout, Emily;
Tanikawa, Chizu;
Kamatani, Yoichiro;
Terao, Chikashi;
Takahashi, Atsushi;
Kubo, Michiaki;
Matsuda, Koichi;
Thakker, Rajesh V.;
Turney, Benjamin W.;
Furniss, Dominic

Publication type:

Correction Notice

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.

Published in:

Science Signaling, 2018, v. 11, n. 518, p. 1, doi. 10.1126/scisignal.aan3714

By:

Gorvin, Caroline M.;
Babinsky, Valerie N.;
Malinauskas, Tomas;
Nissen, Peter H.;
Schou, Anders J.;
Hanyaloglu, Aylin C.;
Siebold, Christian;
Jones, E. Yvonne;
Hannan, Fadil M.;
Thakker, Rajesh V.

Publication type:

Article

N-ethyl-N-Nitrosourea (ENU) Induced Mutations within the Klotho Gene Lead to Ectopic Calcification and Reduced Lifespan in Mouse Models.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122650

By:

Esapa, Christopher T.;
Hannan, Fadil M.;
Babinsky, Valerie N.;
Potter, Paul;
Thomas, Gethin P.;
Croucher, Peter I.;
Brown, Matthew A.;
Brown, Steve D. M.;
Cox, Roger D.;
Thakker, Rajesh V.

Publication type:

Article

Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119459

By:

Babinsky, Valerie N.;
Hannan, Fadil M.;
Youhanna, Sonia C.;
Maréchal, Céline;
Jadoul, Michel;
Devuyst, Olivier;
Thakker, Rajesh V.

Publication type:

Article

Role of Ca<sup>2+</sup> and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations.

Published in:

PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0113622

By:

Zhang, Chen;
Mulpuri, Nagaraju;
Hannan, Fadil M.;
Nesbit, M. Andrew;
Thakker, Rajesh V.;
Hamelberg, Donald;
Brown, Edward M.;
Yang, Jenny J.

Publication type:

Article

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055412

By:

Loh, Nellie Y.;
Bentley, Liz;
Dimke, Henrik;
Verkaart, Sjoerd;
Tammaro, Paolo;
Gorvin, Caroline M.;
Stechman, Michael J.;
Ahmad, Bushra N.;
Hannan, Fadil M.;
Piret, Sian E.;
Evans, Holly;
Bellantuono, Ilaria;
Hough, Tertius A.;
Fraser, William D.;
Hoenderop, Joost G. J.;
Ashcroft, Frances M.;
Brown, Steve D. M.;
Bindels, René J. M.;
Cox, Roger D.;
Thakker, Rajesh V.

Publication type:

Article

A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045217

By:

Piret, Sian E.;
Esapa, Christopher T.;
Gorvin, Caroline M.;
Head, Rosie;
Loh, Nellie Y.;
Devuyst, Olivier;
Thomas, Gethin;
Brown, Steve D. M.;
Brown, Matthew;
Croucher, Peter;
Cox, Roger;
Thakker, Rajesh V.;
Shree Ram Singh

Publication type:

Article

A Mouse with an N-Ethyl- N-Nitrosourea (ENU) Induced Trp589Arg Galnt3Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043205

By:

Esapa, Christopher T.;
Head, Rosie A.;
Jeyabalan, Jeshmi;
Evans, Holly;
Hough, Tertius A.;
Cheeseman, Michael T.;
McNally, Eugene G.;
Carr, Andrew J.;
Thomas, Gethin P.;
Brown, Matthew A.;
Croucher, Peter I.;
Brown, Steve D. M.;
Cox, Roger D.;
Thakker, Rajesh V.;
Aprikyan, Andranik Andrew

Publication type:

Article

SEDLIN Forms Homodimers: Characterisation of SEDLIN Mutations and Their Interactions with Transcription Factors MBP1, PITX1 and SF1.

Published in:

PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010646

By:

Jeyabalan, Jeshmi;
Nesbit, M. Andrew;
Galvanovskis, Juris;
Callaghan, Richard;
Rorsman, Patrik;
Thakker, Rajesh V.

Publication type:

Article

Renal Chloride Channel, CLCN5, Mutations in Dent's Disease.

Published in:

Journal of Bone & Mineral Research, 1999, v. 14, n. 9, p. 1536, doi. 10.1359/jbmr.1999.14.9.1536

By:

Cox, Jeremy P. D.;
Yamamoto, Katsusuke;
Christie, Paul T.;
Wooding, Carol;
Feest, Terry;
Flinter, Frances A.;
Goodyer, Paul R.;
Leumann, Ernst;
Neuhaus, Thomas;
Reid, Christopher;
Williams, Paul F.;
Wrong, Oliver;
Thakker, Rajesh V.

Publication type:

Article

Linkage Studies of a Missouri Kindred with Autosomal Dominant Spondyloepimetaphyseal Dysplasia (SEMD) Indicate Genetic Heterogeneity.

Published in:

Journal of Bone & Mineral Research, 1997, v. 12, n. 8, p. 1204, doi. 10.1359/jbmr.1997.12.8.1204

By:

Gertner, Joseph M.;
Whyte, Michael P.;
Dixon, Peter H.;
Pang, Joanna T.;
Trump, Dorothy;
Pearce, Simon H. S.;
Wooding, Carol;
Thakker, Rajesh V.

Publication type:

Article

Genetics of monogenic disorders of calcium and bone metabolism.

Published in:

Clinical Endocrinology, 2022, v. 97, n. 4, p. 483, doi. 10.1111/cen.14644

By:

Newey, Paul J.;
Hannan, Fadil M.;
Wilson, Abbie;
Thakker, Rajesh V.

Publication type:

Article

What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1?

Published in:

Clinical Endocrinology, 2019, v. 91, n. 6, p. 708, doi. 10.1111/cen.14094

By:

Challis, Benjamin G.;
Casey, Ruth T.;
Grossman, Ashley;
Newell‐Price, John;
Newey, Paul;
Thakker, Rajesh V.

Publication type:

Article

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.

Published in:

Clinical Endocrinology, 2016, v. 84, n. 3, p. 463, doi. 10.1111/cen.12953

By:

Lemos, Manuel C.;
Christie, Paul T.;
Rodrigues, Dírcea;
Thakker, Rajesh V.

Publication type:

Article

Guidelines for the management of thyroid cancer.

Published in:

Clinical Endocrinology, 2014, v. 81, p. 1, doi. 10.1111/cen.12515

By:

Perros, Petros;
Boelaert, Kristien;
Colley, Steve;
Evans, Carol;
Evans, Rhordi M;
Gerrard BA, Georgina;
Gilbert, Jackie;
Harrison, Barney;
Johnson, Sarah J;
Giles, Thomas E;
Moss, Laura;
Lewington, Val;
Newbold, Kate;
Taylor, Judith;
Thakker, Rajesh V;
Watkinson, John;
Williams, Graham R.

Publication type:

Article

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia F. M. Hannan et al. CaSR mutation in hyperparathyroidism

Published in:

Clinical Endocrinology, 2010, v. 73, n. 6, p. 715, doi. 10.1111/j.1365-2265.2010.03870.x

By:

Hannan, Fadil M.;
Nesbit, M. A.;
Christie, Paul T.;
Lissens, Willy;
Van der Schueren, Bart;
Bex, Marie;
Bouillon, Roger;
Thakker, Rajesh V.

Publication type:

Article

Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.

Published in:

2018

By:

Hannan, Fadil M;
Olesen, Mie K;
Thakker, Rajesh V

Publication type:

journal article

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

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 residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3720, doi. 10.1093/hmg/ddy263

By:

Gorvin, Caroline M;
Frost, Morten;
Malinauskas, Tomas;
Cranston, Treena;
Boon, Hannah;
Siebold, Christian;
Jones, E Yvonne;
Hannan, Fadil M;
Thakker, Rajesh V

Publication type:

Article

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010

By:

Gorvin, Caroline M.;
Metpally, Raghu;
Stokes, Victoria J.;
Hannan, Fadil M.;
Krishnamurthy, Sarath B.;
Overton, John D.;
Reid, Jeffrey G.;
Breitwieser, Gerda E.;
Thakker, Rajesh V.

Publication type:

Article

A legacy of tinnitus: multiple head and neck paragangliomas.

Published in:

2009

By:

Tan, Tricia M. M.;
Hatfield, Emma C. I.;
Thakker, Rajesh V.;
Maher, Eamonn R.;
Meeran, Karim;
Martin, Niamh M.;
Turner, Jeremy J.

Publication type:

Case Study

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

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755

By:

Piret, Sian E.;
Gorvin, Caroline M.;
Trinh, Anne;
Taylor, John;
Lise, Stefano;
Taylor, Jenny C.;
Ebeling, Peter R.;
Thakker, Rajesh V.

Publication type:

Article

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.

Published in:

European Journal of Endocrinology, 2022, v. 187, n. 1, p. 111, doi. 10.1530/EJE-21-0730

By:

Cranston, Treena;
Boon, Hannah;
Olesen, Mie K.;
Ryan, Fiona J.;
Shears, Deborah;
London, Rosemary;
Rostom, Hussam;
Elajnaf, Taha;
Thakker, Rajesh V.;
Hannan, Fadil M.

Publication type:

Article