Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice, +21

The American Journal of Human Genetics

Somatic VariantNoncoding Ret MutationsMendelian DisorderGenetic DisorderMedicine +8

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Qian Jiang, Stacey Arnold, Tiffany A. Heanue, +21

The American Journal of Human Genetics

Molecular BiologyFunctional LossPathologySemaphorin 3CHirschsprung Disease Liability

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Hongsheng Gui, Duco Schriemer, William Cheng, +35

Genome biology

A synonymous polymorphism of the Tristetraprolin (TTP) gene, an AU-rich mRNA-binding protein, affects translation efficiency and response to Herceptin treatment in breast cancer patients

Paola Griseri, Christine Bourcier, Corinne Hiéblot, +4

Human Molecular Genetics

Breast OncologyEngineeringImmunologyCancer BiologyTumor Biology +14

Constitutive ERK activity induces downregulation of tristetraprolin, a major protein controlling interleukin8/CXCL8 mRNA stability in melanoma cells

Christine Bourcier, Paola Griseri, Renaud Grépin, +3

American Journal of Physiology-Cell Physiology

Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients

Marta Rusmini, Paola Griseri, Francesca Lantieri, +13

PLoS ONE

Cell TherapyAdaptive Immune SystemImmunologyImmune RegulationPathology +28

FHIT andp53 gene abnormalities in bronchioloalveolar carcinomas. Correlations with clinicopathological data and K-ras mutations

Antonio Marchetti, Silvia Pellegrini, Gloria Bertacca, +8

The Journal of Pathology

Bronchioloalveolar CarcinomasPathologyCancer BiologyTumor BiologyP53 Mutations +14

Genetic analysis of lung tumours of non-smoking subjects: p53 gene mutations are constantly associated with loss of heterozygosity in the FHIT locus

Antonella Marchetti, Silvia Pellegrini, Gabriella Sozzi, +9

British Journal of Cancer

Somatic VariantTumor HeterogeneityMedicineGeneticsFhit Locus +8

A prospective observational study of associated anomalies in Hirschsprung’s disease

Alessio Pini Prato, Valentina Rossi, Manuela Mosconi, +17

Orphanet Journal of Rare Diseases

A common haplotype at the 5′ end of the<i>RET</i>proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

Paola Griseri, Tiziana Bachetti, Francesca Puppo, +4

Human Mutation