Results 71 to 80 of about 2,289,814 (238)
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman
JIMD Reports, 2023 Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly.
Hiroaki Hanafusa +10 more
doaj +1 more source
Fanconi anemia cells with unrepaired DNA damage activate components of the checkpoint recovery process [PDF]
, 2015 International audienceBACKGROUND:The FA/BRCA pathway repairs DNA interstrand crosslinks. Mutations in this pathway cause Fanconi anemia (FA), a chromosome instability syndrome with bone marrow failure and cancer predisposition.
Azpeitia, Eugenio +11 more
core +4 more sources
Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study
Community Dentistry and Oral Epidemiology, EarlyView.ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado +21 more
wiley +1 more source
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [PDF]
, 2016 We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and biopsy of an ...
Demeter, Ryan T +12 more
core +2 more sources
Cell Proliferation, EarlyView.FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong +9 more
wiley +1 more source
Preventing hereditary cancers caused by opportunistic carcinogens [PDF]
, 2011 Objectives Previous studies reported inherited BRCA1/2 deficits appear to cause cancer by impairing normal protective responses to some carcinogens.
Bernard Friedenson
core +2 more sources
Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update
Mediterranean Journal of Hematology and Infectious Diseases, 2018 The heavy chain diseases (HCDs) are rare B-cell malignancies characterized by the production of a monoclonal immunoglobulin heavy chain without an associated light chain.
R. Ria, F. Dammacco, A. Vacca
semanticscholar +1 more source
European Journal of Haematology, EarlyView.ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot +3 more
wiley +1 more source
DNA repair biomarkers XPF and phospho-MAPKAP kinase 2 correlate with clinical outcome in advanced head and neck cancer. [PDF]
, 2014 BackgroundInduction chemotherapy is a common therapeutic option for patients with locoregionally-advanced head and neck cancer (HNC), but it remains unclear which patients will benefit. In this study, we searched for biomarkers predicting the response of
Cohen, Ezra EW +13 more
core +6 more sources
Telomere length in inherited bone marrow failure syndromes
Haematologica, 2015 Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter +3 more
doaj +1 more source