G
Giovanni Romeo
Researcher at International Agency for Research on Cancer
Publications - 74
Citations - 5480
Giovanni Romeo is an academic researcher from International Agency for Research on Cancer. The author has contributed to research in topics: RET proto-oncogene & Proto-Oncogene Proteins c-ret. The author has an hindex of 34, co-authored 74 publications receiving 5341 citations. Previous affiliations of Giovanni Romeo include University of Pisa & Boston Children's Hospital.
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Journal ArticleDOI
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
Alison J. Coffey,Robert A. Brooksbank,Oliver Brandau,Toshitaka Oohashi,Gareth R. Howell,Jacqueline M. Bye,Anthony P. Cahn,Anthony P. Cahn,Jillian Durham,Paul Heath,Paul Wray,Rebecca Pavitt,Jane Wilkinson,Margaret A. Leversha,Elizabeth J. Huckle,Charles Shaw-Smith,Andrew Dunham,Susan Rhodes,Volker Schuster,Giovanni Porta,Luo Yin,Paola Serafini,Bakary S. Sylla,Massimo Zollo,Brunella Franco,Alessandra Bolino,Marco Seri,Arpad Lanyi,Jack R. Davis,David Webster,Ann Harris,Gilbert M. Lenoir,Genevieve de St Basile,Alison Jones,Bernd H. Behloradsky,Helene Achatz,Jan Murken,Reinhard Fässler,Janos Sumegi,Giovanni Romeo,M. Vaudin,Mark T. Ross,Alfons Meindl,David R. Bentley +43 more
TL;DR: A gene, SH2D1A, is identified that is mutated in XLP patients and encodes a novel protein composed of a single SH2 domain that is expressed in many tissues involved in the immune system.
Journal ArticleDOI
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
Giovanni Romeo,Patrizia Ronchetto,Yin Luo,Virginia Barone,Marco Seri,Isabella Ceccherini,Barbara Pasini,Renata Bocciardi,Margherita Lerone,Helena Kääriäinen,Giuseppe Martucciello +10 more
TL;DR: The hypothesis that RET, in addition to its potential role in tumorigenesis, plays a critical role in the embryogenesis of the mammalian enteric nervous system is supported.
Journal ArticleDOI
Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations
Craig T. Basson,Taosheng Huang,R. C. Lin,D. R. Bachinsky,Stanislawa Weremowicz,Alicia Vaglio,Rina Bruzzone,Roberto Quadrelli,Margherita Lerone,Giovanni Romeo,Margherita Silengo,Alexandre C. Pereira,José Eduardo Krieger,Sonia F. Mesquita,Mitsuhiro Kamisago,Cynthia C. Morton,Mary Ella M Pierpont,Chistoph W. Müller,Jonathan G. Seidman,Christine E. Seidman +19 more
TL;DR: Structural data suggest that organ-specific gene activation by TBX5 is predicated on biophysical interactions with different target DNA sequences.
Journal ArticleDOI
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Núria Morral,Jaume Bertranpetit,Xavier Estivill,V. Nunes,Teresa Casals,Javier Giménez,André Reis,R. Varon-Mateeva,Milan Macek,Milan Macek,Luba Kalaydjieva,Dora Angelicheva,R. Dancheva,Giovanni Romeo,Maria Pia Russo,S. Garnerone,Gabriella Restagno,Maurizio Ferrari,C. Magnani,Mireille Claustres,Marie Desgeorges,Marianne Schwartz,Martin Schwarz,Bruno Dallapiccola,Giuseppe Novelli,Claude Férec,M. De Arce,M. Nemeti,M. Nemeti,Juha Kere,Maria Anvret,Niklas Dahl,Ludovit Kadasi +32 more
TL;DR: Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF50 in Europe.
Journal ArticleDOI
A Gene Predisposing to Familial Thyroid Tumors with Cell Oxyphilia Maps to Chromosome 19p13.2
Federico Canzian,Patrizia Amati,H R Harach,Jean-Louis Kraimps,Fabienne Lesueur,Jacques Barbier,Pierre Levillain,Giovanni Romeo,Dominique Bonneau +8 more
TL;DR: The identification of a new entity of FNMTC and the mapping of the responsible gene, named "TCO" (thyroid tumors with cell oxyphilia), in a French pedigree with multiple cases of multinodular goiter and NMTC are reported.