E
E. Gardner
Researcher at University of Cambridge
Publications - 23
Citations - 3425
E. Gardner is an academic researcher from University of Cambridge. The author has contributed to research in topics: Gene mapping & Locus (genetics). The author has an hindex of 13, co-authored 23 publications receiving 3337 citations. Previous affiliations of E. Gardner include UCL Institute of Child Health.
Papers
More filters
Journal ArticleDOI
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Lois M. Mulligan,John B.J. Kwok,Catherine S. Healey,M J Elsdon,Charis Eng,E. Gardner,Donald R. Love,Sara E. Mole,Julie Moore,Laura Papi +9 more
TL;DR: This work has identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls, and found that 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of theRET extracellular and transmembrane domains.
Journal ArticleDOI
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
Lois M. Mulligan,Lois M. Mulligan,Charis Eng,Catherine S. Healey,David Clayton,John B.J. Kwok,E. Gardner,M. A. Ponder,Andrea Frilling,Charles E. Jackson,Hendrik Lehnert,Hartmut P. H. Neumann,Stephen N. Thibodeau,Bruce A.J. Ponder +13 more
TL;DR: The data show a strong correlation between disease phenotype and the nature and position of theRET mutation, suggesting that a simple, constitutive activation of the RET tyrosine kinase is unlikely to explain the events leading to MEN 2A and FMTC.
Journal ArticleDOI
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
Charis Eng,Darrin P. Smith,Lois M. Mulligan,Maria Aparecida Nagai,Catherine S. Healey,M. A. Ponder,E. Gardner,Georg F. W. Scheumann,Charles E. Jackson,Alan Tunnacliffe +9 more
TL;DR: A missense mutation, resulting in the substitution of a threonine for a methionine at codon 918 in the tyrosine kinase catalytic domain, is reported in the germline of 26 of 28 apparently distinct families with MEN 2B.
Journal ArticleDOI
Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2.
TL;DR: It is suggested that at least 7 genes contribute to tumour development in MEN 2, including an initiating locus on chromosome 10 and loci on chromosomes 1, 3, 11, 13, 17, and 22 which have a progressional role in these tumours.
Journal ArticleDOI
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2
E. Gardner,Laura Papi,Laura Papi,Douglas F. Easton,Tim Cummings,Charles E. Jackson,Michael M. Kaplan,Donald R. Love,Sara E. Mole,Julie Moore,Lois M. Mulligan,Robert A. Norum,M. A. Ponder,Seymour Reichlin,Glenn M. Stall,Håkan Telenius,Håkan Telenius,Margareta Telenius-Berg,Alan Tunnacliffe,Bruce A.J. Ponder +19 more
TL;DR: This article carried out genetic linkage analyses using fifteen polymorphic loci in the pericentromeric region of chromosome 10 in families with the inherited cancer syndromes multiple endocrine neoplasia (MEN) type 2A or 2B.