T
Tom Callens
Researcher at University of Alabama at Birmingham
Publications - 46
Citations - 2446
Tom Callens is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Population & Gene. The author has an hindex of 25, co-authored 45 publications receiving 2123 citations. Previous affiliations of Tom Callens include Ghent University & Ghent University Hospital.
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Journal ArticleDOI
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Ludwine Messiaen,Tom Callens,Geert Mortier,Diane Beysen,Ina Vandenbroucke,Nadine Van Roy,Frank Speleman,Anne De Paepe +7 more
TL;DR: The data suggest that exons 10a‐10c and 37 are mutation‐rich regions and that together with some recurrent mutations they may account for almost 30% of the mutations in classical NF1 patients, and that it remains possible that a truncated neurofibromin is formed.
Journal ArticleDOI
NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome
Michael Hölzel,Sidong Huang,Jan Koster,Ingrid Øra,Arjan Lakeman,Huib N. Caron,Wouter Nijkamp,Jing Xie,Tom Callens,Shahab Asgharzadeh,Robert C. Seeger,Ludwine Messiaen,Rogier Versteeg,René Bernards +13 more
TL;DR: Using a large-scale RNAi genetic screen, crosstalk between the tumor suppressor NF1 and retinoic acid-induced differentiation in neuroblastoma is identified and inhibition of MEK signaling downstream of NF1 restores responsiveness to RA, suggesting a therapeutic strategy to overcome RA resistance in NF1-deficient neuroblastomas.
Journal ArticleDOI
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen,S. Yao,Hilde Brems,Tom Callens,Achara Sathienkijkanchai,Ellen Denayer,Emily Spencer,Pamela Arn,Dusica Babovic-Vuksanovic,Carolyn Bay,Gary Bobele,Bruce H. Cohen,Luis F. Escobar,Deborah L. Eunpu,Theresa A. Grebe,Robert M. Greenstein,Rachel K. Hachen,Mira Irons,David Kronn,Edmond G. Lemire,Kathleen A. Leppig,Cynthia Lim,Marie T. McDonald,Vinodh Narayanan,Amy Pearn,Robert Pedersen,Berkley R. Powell,Lawrence R. Shapiro,David Skidmore,David Tegay,Heidi Thiese,Elaine H. Zackai,Raymon Vijzelaar,Koji Taniguchi,Koji Taniguchi,Toranoshin Ayada,Fuyuki Okamoto,Akihiko Yoshimura,Akihiko Yoshimura,Annabel H. A. Parret,Bruce R. Korf,Eric Legius +41 more
TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.
Journal ArticleDOI
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
K. Wimmer,S. Yao,Kathleen Claes,Hildegard Kehrer-Sawatzki,Sigrid Tinschert,T. De Raedt,Eric Legius,Tom Callens,Tom Callens,H. Beiglböck,Ophélia Maertens,Ludwine Messiaen,Ludwine Messiaen +12 more
TL;DR: It was showed that intragenic deletions and/or duplications represent only ∼2% of all NF1 mutations, and MLPA was a useful first step in a comprehensive mutation analysis scheme to quickly pinpoint patients with single‐ or multiexon deletions/duplications as well as patients with a total gene deletion who will not need full sequencing of the complete coding region.
Journal ArticleDOI
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit,Kitiwan Rojnueangnit,Jing Xie,Alicia Gomes,Angela Sharp,Tom Callens,Yunjia Chen,Ying Liu,Meagan E. Cochran,Mary Alice Abbott,Joan F. Atkin,Dusica Babovic-Vuksanovic,Christopher P. Barnett,Melissa Crenshaw,Dennis Bartholomew,Lina Basel,Gary Bellus,Shay Ben-Shachar,Martin G. Bialer,David P. Bick,Bruce Blumberg,Fanny Cortés,Karen L. David,Anne Destree,Anna Duat-Rodriguez,Dawn L. Earl,Luis F. Escobar,Marthanda Eswara,Begona Ezquieta,Ian M. Frayling,Moshe Frydman,Kathy Gardner,Karen W. Gripp,Concepción Hernández-Chico,Kurt Heyrman,Jennifer Ibrahim,Sandra Janssens,Beth Keena,Isabel Llano-Rivas,Kathy A. Leppig,Marie T. McDonald,Vinod K. Misra,Jennifer Mulbury,Vinodh Narayanan,Naama Orenstein,Patricia Galvin-Parton,Helio Pedro,Eniko K. Pivnick,Cynthia M. Powell,Linda M. Randolph,Salmo Raskin,Jordi Rosell,Karol Rubin,Margretta R. Seashore,Christian P. Schaaf,Angela E. Scheuerle,Meredith Schultz,Elizabeth K. Schorry,Rhonda E. Schnur,Elizabeth Siqveland,Amanda Tkachuk,James H. Tonsgard,Meena Upadhyaya,Ishwar C. Verma,Stephanie E Wallace,Charles A. Williams,Elaine H. Zackai,Jonathan Zonana,Conxi Lázaro,Kathleen Claes,Bruce R. Korf,Yolanda Martin,Eric Legius,Ludwine Messiaen +73 more
TL;DR: 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.