نتایج جستجو برای: connexin 26
تعداد نتایج: 167621 فیلتر نتایج به سال:
Connexin hemichannels have been implicated in pathology-promoting conditions, including inflammation, numerous widespread human diseases, cancer and diabetes, several rare diseases linked to pathological point mutations. We analysed the literature focusing on antibodies capable of modulating hemichannel function, highlighting generation methods, applications basic biomedical research translatio...
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.
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