An IgE deficiency was demonstrated in 11 of 16 patients with ataxia-telangiectasia. No relation to age or to the level of IgG, IgM or IgD was found. Nine out of 11 patients with IgE and IgA ...

Previous work from the team had identified a lead compound that could cross the blood brain barrier and target the DNA damage repair protein ataxia telangiectasia mutated (ATM). 3 The protein ...

Ataxia telangiectasia develops in childhood, and symptoms of the inherited multisystem disorder include ataxia, oculomotor ...

Hereditary breast cancers are caused by germline mutations, which are genetic mutations inherited at conception and so called ...

Researchers at the Icahn School of Medicine at Mount Sinai have made a promising breakthrough in the treatment of small cell ...

For example, the algorithm accurately predicted 39 out of the 45 sites in 16 known ataxia-telangiectasia mutated (ATM) substrates, but also predicted 12 new ATM sites. Among the novel substrates ...

Repare Therapeutics Announces Phase 1 Data Highlighting Camonsertib in Combination with Radiotherapy Treatment Presented at ...

Repare Therapeutics said it received encouraging early phase 1 data for its camonsertib inhibitor combined with palliative radiation for the treatment of metastatic tumors harboring an ...

Second, we have shown that mutations of the NBS1 and MRE11 genes, encoding members of the human complex, are responsible for the chromosome instability syndromes — Nijmegen breakage syndrome (NBS) and ...

Repare Therapeutics said it received encouraging early phase 1 data for its camonsertib inhibitor combined with palliative radiation for the treatment of metastatic tumors harboring an ...

Under current guidelines, only those with type 2 diabetes who do not have the condition under control are eligible to get Mounjaro via the health service. But in a consultation the UK's drugs ...