J
Joel Martin
Researcher at Joint Genome Institute
Publications - 67
Citations - 5554
Joel Martin is an academic researcher from Joint Genome Institute. The author has contributed to research in topics: Genome & Gene. The author has an hindex of 33, co-authored 64 publications receiving 4758 citations. Previous affiliations of Joel Martin include United States Department of Energy & Lawrence Berkeley National Laboratory.
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Journal ArticleDOI
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Marco Tartaglia,Len A. Pennacchio,Len A. Pennacchio,Chen Zhao,Kamlesh K Yadav,Valentina Fodale,Anna Sarkozy,Anna Sarkozy,Bhaswati Pandit,Kimihiko Oishi,Simone Martinelli,Wendy Schackwitz,Wendy Schackwitz,Anna Ustaszewska,Joel Martin,Joel Martin,James Bristow,James Bristow,Claudio Carta,Francesca Romana Lepri,Francesca Romana Lepri,Cinzia Neri,Cinzia Neri,Isabella Vasta,Kate Gibson,Cynthia J. Curry,Juan Pedro López Siguero,Maria Cristina Digilio,Giuseppe Zampino,Bruno Dallapiccola,Bruno Dallapiccola,Dafna Bar-Sagi,Bruce D. Gelb +32 more
TL;DR: In this paper, the authors reported that 22 of 129 NoNoonan syndrome (NS) patients without PTPN11 or KRAS mutation (17 percent) have missense mutations in SOS1, which encodesa RAS-specific guanine nucleotide exchange factor (GEF).
Journal Article
Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome
Marco Tartaglia,Len A. Pennacchio,Len A. Pennacchio,Chen Zhao,Kamlesh K Yadav,Valentina Fodale,Anna Sarkozy,Anna Sarkozy,Bhaswati Pandit,Kimihiko Oishi,Simone Martinelli,Wendy Schackwitz,Wendy Schackwitz,Anna Ustaszewska,Joel Martin,Joel Martin,James Bristow,James Bristow,Claudio Carta,Francesca Romana Lepri,Francesca Romana Lepri,Cinzia Neri,Cinzia Neri,Isabella Vasta,Kate Gibson,Cynthia J. Curry,Juan Pedro López Siguero,Maria Cristina Digilio,Giuseppe Zampino,Bruno Dallapiccola,Bruno Dallapiccola,Dafna Bar-Sagi,Bruce D. Gelb +32 more
TL;DR: It is reported that 22 of 129 individuals with Noonan syndrome without PTPN11 or KRAS mutation have missense mutations in SOS1, which encodes a RAS-specific guanine nucleotide exchange factor, and this finding defines a new mechanism by which upregulation of the RAS pathway can profoundly change human development.
Journal ArticleDOI
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu,Elia Di Schiavi,Len A. Pennacchio,Len A. Pennacchio,Avi Ma'ayan,Anna Sarkozy,Valentina Fodale,Valentina Fodale,Serena Cecchetti,Alessio Cardinale,Joel Martin,Wendy Schackwitz,Anna Lipzen,Giuseppe Zampino,Laura Mazzanti,Maria Cristina Digilio,Simone Martinelli,Elisabetta Flex,Francesca Romana Lepri,Deborah Bartholdi,Kerstin Kutsche,Giovanni Battista Ferrero,Cecilia Anichini,Angelo Selicorni,Cesare Rossi,Romano Tenconi,Martin Zenker,Daniela Merlo,Bruno Dallapiccola,Bruno Dallapiccola,Ravi Iyengar,Paolo Bazzicalupo,Bruce D. Gelb,Marco Tartaglia +33 more
TL;DR: It is shown that aberrantly acquired N-myristoylation of SHOC2, a leucine-rich repeat–containing protein that positively modulates RAS-MAPK signal flow, underlies a clinically distinctive condition of the neuro-cardio-facial-cutaneous disorders family.
Journal ArticleDOI
Evolutionary genomics of the cold-adapted diatom Fragilariopsis cylindrus
Thomas Mock,Robert Otillar,Jan Strauss,Mark McMullan,Pirita Paajanen,Jeremy Schmutz,Asaf Salamov,Remo Sanges,Andrew Toseland,Ben J. Ward,Ben J. Ward,Andrew E. Allen,Andrew E. Allen,Christopher L. Dupont,Stephan Frickenhaus,Florian Maumus,Alaguraj Veluchamy,Taoyang Wu,Kerrie Barry,Angela Falciatore,Maria Immacolata Ferrante,Antonio Emidio Fortunato,Gernot Glöckner,Gernot Glöckner,Ansgar Gruber,Rachel Hipkin,Michael G. Janech,Peter G. Kroth,Florian Leese,Erika Lindquist,Barbara R. Lyon,Joel Martin,Christoph Mayer,Micaela S. Parker,Hadi Quesneville,James A. Raymond,Christiane Uhlig,Ruben E. Valas,Klaus Valentin,Alexandra Z. Worden,E. Virginia Armbrust,Matthew D. Clark,Matthew D. Clark,Chris Bowler,Beverley R. Green,Vincent Moulton,Cock van Oosterhout,Igor V. Grigoriev,Igor V. Grigoriev +48 more
TL;DR: In this article, the genome evolution of a cold-adapted diatom from the Southern Ocean, Fragilariopsis cylindrus, based on a comparison with temperate diatoms was studied.
Journal ArticleDOI
Population genomics of Populus trichocarpa identifies signatures of selection and adaptive trait associations
Luke M. Evans,Gancho T. Slavov,Eli Rodgers-Melnick,Joel Martin,Priya Ranjan,Wellington Muchero,Amy M. Brunner,Wendy Schackwitz,Lee E. Gunter,Jin-Gui Chen,Gerald A. Tuskan,Stephen P. DiFazio +11 more
TL;DR: A combination of whole-genome selection scans and association analyses of Populus trichocarpa trees are used to reveal genomic bases of adaptive variation across a wide latitudinal range, providing unexpected insights into the evolutionary dynamics of duplicated genes and their roles in adaptive trait variation.