Journal ArticleDOI
RET mutations in human disease
TLDR
The RET proto-oncogene is at the origin of one of the most interesting models of human disease caused by mutations in a receptor tyrosine kinase gene and causes the autosomal dominant form of Hirschsprung disease.About:
This article is published in Trends in Genetics.The article was published on 1996-04-01. It has received 183 citations till now. The article focuses on the topics: Proto-Oncogene Proteins c-ret & Multiple endocrine neoplasia type 2.read more
Citations
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Journal ArticleDOI
Defects in enteric innervation and kidney development in mice lacking GDNF
José G. Pichel,Liya Shen,Hui Z. Sheng,Ann-Charlotte Granholm,John Drago,Alexander Grinberg,Eric J. Lee,Sing Ping Huang,Mart Saarma,Barry J. Hoffer,Hannu Sariola,Heiner Westphal +11 more
TL;DR: It is demonstrated that GDNF induces ureter bud formation and branching during metanephros development, and is essential for proper innervation of the gastrointestinal tract.
Journal ArticleDOI
Cardiac Endothelial-Myocardial Signaling: Its Role in Cardiac Growth, Contractile Performance, and Rhythmicity
TL;DR: In relation specifically to the endocardial endothelium, an active transendothelial physicochemical gradient for various ions, or blood-heart barrier, has been demonstrated, and linkage of this blood- heart barrier to the various other endothelia-mediated signaling pathways or to the putative vascular endothelialium-derived hyperpolarizing factors remains to be determined.
Journal ArticleDOI
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
Marika J. Karkkainen,Robert E. Ferrell,Elizabeth C. Lawrence,Mark A. Kimak,Kara L. Levinson,Michele A. McTigue,Kari Alitalo,David N. Finegold +7 more
TL;DR: It is established that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGfr-3 signal transduction are a cause of primary lymphoedema.
Journal ArticleDOI
Human Cancer Syndromes: Clues to the Origin and Nature of Cancer
TL;DR: Though hereditary cancer syndromes are rare, their study has provided powerful insights into more common forms of cancer and will aid efforts to effectively prevent, detect, and treat the disease.
Patent
DNA diagnostics based on mass spectrometry
TL;DR: In this article, a mass spectrometer-based process for detecting nucleic acid sequences in a biological sample was proposed, which can be used to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.
References
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Cancer Incidence in Five Continents
Freddie Bray,J. Ferlay,Mathieu Laversanne,David H. Brewster,C. Gombe Mbalawa,B. Kohler,Marion Piñeros,Eva Steliarova-Foucher,Rajaraman Swaminathan,Sebastien Antoni,Isabelle Soerjomataram,David Forman +11 more
TL;DR: The aim of this study was to establish a database of histological groups and to provide a level of consistency and quality of data that could be applied in the design of future registries.
Journal ArticleDOI
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
Anita Schuchardt,Vivette D. D'Agati,Lena Larsson-Blomberg,Frank Costantini,Vassilis Pachnis,Vassilis Pachnis +5 more
TL;DR: It is shown that mice homozygous for a targeted mutation in c-ret develop to term, but die soon after birth, showing renal agenesis or severe dysgenesis, and lacking enteric neurons throughout the digestive tract, indicating an essential component of a signalling pathway required for renal organogenesis and enteric neurogenesis.
Journal ArticleDOI
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
Helen Donis-Keller,S. Dou,David Chi,Katrin M. Carlson,Koji Toshima,Terry C. Lairmore,James R. Howe,Jeffrey F. Moley,Jeffrey F. Moley,Paul J. Goodfellow,Samuel A. Wells +10 more
TL;DR: Evidence is presented that sequence changes within the coding region of the RET proto-oncogene, a putative transmembrane tyrosine kinase, may be responsible for the development of neoplasia in these inherited disorders.
Journal ArticleDOI
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
Robert M. W. Hofstra,R.M. Landsvater,Isabella Ceccherini,Rein P. Stulp,T. Stelwagen,Yin Luo,Barbara Pasini,Jo W.M. Höppener,Hans Kristian Ploos van Amstel,Giovanni Romeo,Cornells J. M. Lips,Charles H.C.M. Buys +11 more
TL;DR: It is shown that MEN 2B is also associated with mutation of the RET proto-oncogene, and a mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated men 2B patients studied.
Journal ArticleDOI
Signalling by Receptor Tyrosine Kinases
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James J.S. Treanor,Laurie J. Goodman,Frederic J. de Sauvage,Donna M. Stone,Kristian Todd Poulsen,Claus D. Beck,Christa L. Gray,Mark Armanini,Richard A. Pollock,Franz Hefti,Heidi S. Phillips,Audry Goddard,Mark W. Moore,Anna Buj-Bello,Alun M. Davies,Naoya Asai,Masahide Takahashi,Richard Vandlen,Christopher E. Henderson,Arnon Rosenthal +19 more