… Myhre syndrome is a developmental disorder characterized by reduced growth, generalized
… Although SMAD4 has been established as a tumor suppressor gene somatically mutated in …

… syndrome when cancer screening panels are used. We propose that patients with Myhre
syndrome … TGFB-1 causes downregulation of the tumor suppressor PTEN through activation of …

… -SMAD, SMAD4 occurred in cancer cells and was associated with oncogenic mutations that
lead to SMAD4 inactivation 45. SMAD4 has been considered as a tumor suppressor. Loss of …

… Myhre syndrome is a progressive disease with severe multisystemic impairement and life-…
SMAD4 is also known to be a tumor suppressor gene. Indeed, mutations leading to loss of …

… Myhre syndrome (OMIM 139210) is a rare developmental … of the clinical features of Myhre
syndrome during childhood in a … -threatening complications of Myhre syndrome that justify the …

… We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have
… homolog) family, which is considered as a tumor suppressor. It acts as a comediator within a …

… SMAD4 is a tumor suppressor gene involved in the development of various malignancies.
Moreover, a large number of constitutional SMAD4 loss of function mutations affecting all …

… only provide novel insights into the mechanism of Myhre syndrome pathogenesis but also
extend the current knowledge of how pathogenic variants in SMAD proteins cause disease. …

… been recognized as a tumor suppressor somatically mutated in cancer, and germline loss-of…
, predisposing individuals to gastrointestinal cancer and vascular malformations [Howe et al.…

… Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in
… We report four newly described patients with typical features of Myhre syndrome who had (i) …