Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts [PDF]
, 2021 Barbara Oleksy +8 more
openalex +1 more source
Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology
Molecular Oncology, EarlyView.Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts +8 more
wiley +1 more source
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]
, 2010 The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki +46 more
core +1 more source
White matter injury mediates the effects of PS1 mutation position on clinical measures in late disease stage [PDF]
, 2023 Nelly Joseph‐Mathurin +21 more
openalex +1 more source
White cell deficiency and TET2 and SRSF2 gene mutations
Proceedings of the Institute of Biology, 2021 No abstract in English Цагаан эсийн дутагдал ба TET2, SRSF2 генийн ...
openaire +1 more source
Molecular Oncology, EarlyView.This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian +10 more
wiley +1 more source
A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
Haseki Tıp Bülteni, 2020 We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings.
Senem Ayça +3 more
doaj +1 more source
How BRCA1 deficiency affects emergency granulopoeisis in cells [PDF]
, 2016 BRCA1 mutation carriers are predisposed to breast and ovarian cancer. Chemotherapy is a common treatment used in breast cancer patients. However, chemotherapy can cause damage to bone marrow.
Dhar, Shilpa
core +2 more sources
E05 Mutation-related apparent myelin, not axon density, drives white matter pathology in premanifest huntington’s disease: evidence from in vivo ultra-strong gradient MRI [PDF]
, 2021 Chiara Casella +8 more
openalex +1 more source
Stabilization of hen egg white lysozyme by a cavity‐filling mutation [PDF]
Protein Science, 2001 AbstractStabilization of a protein using cavity‐filling strategy has hardly been successful because of unfavorable van der Waals contacts. We succeeded in stabilizing lysozymes by cavity‐filling mutations. The mutations were checked by a simple energy minimization in advance.
T, Ohmura +4 more
openaire +2 more sources