B
Brian Harding
Researcher at John Radcliffe Hospital
Publications - 19
Citations - 2628
Brian Harding is an academic researcher from John Radcliffe Hospital. The author has contributed to research in topics: Gene & MEN1. The author has an hindex of 12, co-authored 19 publications receiving 2510 citations. Previous affiliations of Brian Harding include Hammersmith Hospital & Nuffield Orthopaedic Centre.
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Journal ArticleDOI
A common molecular basis for three inherited kidney stone diseases
Sarah E. Lloyd,Simon H. S. Pearce,Simon E. Fisher,Klaus Steinmeyer,Blanche Schwappach,Steven J. Scheinman,Steven J. Scheinman,Brian Harding,Alessandra Bolino,Marcella Devoto,Paul Goodyer,S.P.A. Rigden,Oliver Wrong,Thomas J. Jentsch,Ian W. Craig,Rajesh V. Thakker +15 more
TL;DR: Investigation of 11 kindreds with renal tubular disorders for CLCN5 abnormalities identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one micro-deletion encompassing the entire gene.
Journal ArticleDOI
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome
John D. Carpten,Christiane M. Robbins,Andrea Villablanca,Lars Forsberg,Silvano Presciuttini,Joan E. Bailey-Wilson,William F. Simonds,E. Gillanders,A.M. Kennedy,Jindong Chen,Sunita K. Agarwal,Raman Sood,Mary Pat Jones,Tracy Moses,C. Haven,David Petillo,P.D. Leotlela,Brian Harding,David Cameron,Anna A.J. Pannett,Anders Höög,H. Heath,Laura James-Newton,Bruce G. Robinson,R.J. Zarbo,Branca M. Cavaco,Wassif S. Wassif,N.D. Perrier,I.B. Rosen,Ulf Kristoffersson,Peter D. Turnpenny,Lars-Ove Farnebo,G. M. Besser,Charles E. Jackson,Hans Morreau,J.M. Trent,Rajesh V. Thakker,Stephen J. Marx,Bin Tean Teh,Catharina Larsson,Maurine R. Hobbs +40 more
TL;DR: The findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT–JT and in development of some sporadic parathyroid tumors.
Journal ArticleDOI
GATA3 haplo-insufficiency causes human HDR syndrome.
H Van Esch,Peter M.A. Groenen,M A Nesbit,Simone Schuffenhauer,Peter Lichtner,Gert Vanderlinden,Brian Harding,Rolf Beetz,Rudolf W. Bilous,Ian M. Holdaway,Nick Shaw,J. P. Fryns,W.J.M. Van de Ven,Rajesh V. Thakker,Koenraad Devriendt +14 more
TL;DR: The results show that GATA3 is essential in the embryonic development of the parathyroids, auditory system and kidneys, and indicate that other GATA family members may be involved in the aetiology of human malformations.
Journal ArticleDOI
Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1
J. H. D. Bassett,Simon A. Forbes,Anna A.J. Pannett,S E Lloyd,Paul T. Christie,C Wooding,Brian Harding,G. M. Besser,C.R. Edwards,John P. Monson,Julian R. Sampson,John A.H. Wass,M.H. Wheeler,Rajesh V. Thakker +13 more
TL;DR: The results provide the basis for a molecular-genetic screening approach that will supplement the clinical evaluation and genetic counseling of members of MEN1 families and SSCP was found to be a sensitive and specific mutational screening method that detected >85% of the mutations.
Journal ArticleDOI
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.
Anna A.J. Pannett,A Kennedy,Jeremy Turner,Simon A. Forbes,Branca M. Cavaco,Branca M. Cavaco,J. H. D. Bassett,Luisella Cianferotti,Brian Harding,Brian Harding,Brian Shine,Frances Flinter,C G H Maidment,Richard C. Trembath,Rajesh V. Thakker,Rajesh V. Thakker +15 more
TL;DR: Seven families in whom primary hyperparathyroidism occurred as the sole endocrinopathy were explored, finding that the disorder may represent either an early stage of multiple endocrine neoplasia type 1 (MEN1), or an allelic variant of MEN1, or a distinct entity involving another locus.