A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
James A. Trofatter,Mia MacCollin,Joni L. Rutter,Jill R. Murrell,Mabel P. Duyao,Dilys M. Parry,Roswell Eldridge,Nikolai Kley,Anil G. Menon,K Pulaski,Volker H. Haase,Christine Ambrose,David J. Munroe,Catherine Bove,Jonathan L. Haines,Robert L. Martuza,Marcy E. MacDonald,Bernd R. Seizinger,M. Priscilla Short,Alan Buckler,James F. Gusella +20 more
TLDR
A candidate gene for the NF2 tumor suppressor that has suffered nonoverlapping deletions in DNA from two independent NF2 families and alterations in meningiomas from two unrelated NF2 patients is identified.About:
This article is published in Cell.The article was published on 1993-03-12 and is currently open access. It has received 1268 citations till now. The article focuses on the topics: Tumor suppressor gene & Neurofibromatosis.read more
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Identification of the von Hippel-Lindau disease tumor suppressor gene.
Farida Latif,K. Tory,James R. Gnarra,M Yao,Fuh Mei Duh,M L Orcutt,Thomas Stackhouse,Igor Kuzmin,William S. Modi,L Geil +9 more
TL;DR: A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene, and a restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds.
Journal ArticleDOI
CD44: From adhesion molecules to signalling regulators
TL;DR: Cell-adhesion molecules, once believed to function primarily in tethering cells to extracellular ligands, are now recognized as having broader functions in cellular signalling cascades and the CD44 transmembrane glycoprotein family adds new aspects to these roles by participating in signal-transduction processes.
Journal ArticleDOI
The Hippo Signaling Pathway in Development and Cancer
TL;DR: Recent studies suggest that the core Hippo kinase cascade integrates multiple upstream inputs, enabling dynamic regulation of tissue homeostasis in animal development and physiology.
Journal ArticleDOI
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Heidi Hahn,Carol Wicking,Peter G. Zaphiropoulos,Mae R. Gailani,Susan Shanley,Abirami Chidambaram,Igor Vorechovsky,Erika Holmberg,Anne Birgitte Undén,Susan Gillies,Kylie Negus,Ian M. Smyth,Carolyn Pressman,David J. Leffell,Bernard Gerrard,Alisa M. Goldstein,Michael Dean,Rune Toftgård,Georgia Chenevix-Trench,Brandon J. Wainwright,Allen E. Bale +20 more
TL;DR: It is proposed that a reduction in expression of the patched gene can lead to the developmental abnormalities observed in the syndrome and that complete loss of patched function contributes to transformation of certain cell types.
Journal ArticleDOI
Identification and characterization of the tuberous sclerosis gene on chromosome 16
Mark Nellist,Bart Janssen,Phillip T. Brook-Carter,Arjenne L. W. Hesseling-Janssen,Magitha M. Maheshwar,Senno Verhoef,Ans M.W. van den Ouweland,Dick Lindhout,Bert Eussen,Isabel Cordeiro,Heloisa Santos,Dicky J. J. Halley,Julian R. Sampson,Christopher J. Ward,Belén Peral,Sandra Thomas,Jim R. Hughes,Peter C. Harris,Jeroen H. Roelfsema,Jasper J. Saris,Lia Spruit,Dorien J.M. Peters,J. G. Dauwerse,Martijn H. Bruening +23 more
TL;DR: Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3.
References
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Guy A. Rouleau,P. Merel,Mohini Lutchman,Marc Sanson,Marc Sanson,Jessica Zucman,Claude Marineau,Khê Hoang-Xuan,S. Demczuk,Chantal Desmaze,Béatrice Plougastel,Stefan M. Pulst,Gilbert M. Lenoir,E. K. Bijlsma,Raimund Fashold,Jan P. Dumanski,Pieter J. de Jong,Dilys M. Parry,Roswell Eldrige,Alain Aurias,Olivier Delattre,Gilles Thomas +21 more