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Disease: Keratosis palmoplantaris with esophageal cancer

  • A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome
  • Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
  • Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17
  • Estimating the impact of new high seas activities on the environment: the effects of ocean-surface macroplastic removal on sea surface ecosystems
  • Hereditary tylosis syndrome and esophagus cancer
  • iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function
  • iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility
  • Pathological mutations reveal the key role of the cytosolic iRhom2 N-terminus for phosphorylation-independent 14-3-3 interaction and ADAM17 binding, stability, and activity
  • Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16
  • The cutaneous manifestations of gastrointestinal malignancy
  • Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel RHBDF2 variant
  • Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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