Results 131 to 140 of about 35,381 (234)
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins +5 more
wiley +1 more source
Case Report: Neuro-Imaging Findings in Ataxia Telangiectasia
Ataxia Telangiectasia (AT) is an autosomal recessive inherited disorder in which cutaneous and scleral Telangiectasia, cerebellar ataxia and immunodeficiency occur.
Farhad Mahvelati +1 more
doaj
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia
Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. These patients are also hypersensitive to radiotherapy.
Bottle, S (15815519) +3 more
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ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld +6 more
wiley +1 more source
Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia
Background and objectiveHereditary ataxia (HA) encompasses a diverse group of neurological disorders characterized by significant clinical and genetic heterogeneity. This case series study aims to present a case series of HA from Southwest China, thereby
Liqi Guo +7 more
doaj +1 more source
Toxigenic Salmonella enterica exocytose the typhoid toxin during infection causing host cell DNA damage, which activates a Type‐1 Interferon‐like response characterised by interferon‐stimulated gene 15 (ISG15) expression. ISG15 was required for host cell survival during Interferon responses and suppressed intracellular growth of Salmonella. Thus, ISG15
Daniel S. Stark +11 more
wiley +1 more source
Ataxia-telangiectasia syndrome
Joana Fortuna +2 more
openaire +2 more sources
Evaluating the efficacy of DNA repair biomarkers to assess human cell response to chemotherapy using imaging flow cytometry [PDF]
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Chemotherapy and radiotherapy are widely accepted as common forms of treatment for cancers. The majority of cancer patients receive chemotherapy alone or in
Zahir, Sheba Adam
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SUMMARY Maintenance of genome integrity is essential for plant growth and survival. Plants have evolved specialised DNA damage responses that coordinate DNA repair, cell cycle arrest and stem cell‐specific cell death. However, the mechanism through which damaged stem cells are selectively eliminated remains unclear.
Toshiki Wada +3 more
wiley +1 more source
Cytoskeletal pathology in ataxia-telangiectasia.
Neuropathological features of a case of ataxia-telangiectasia are reported. The main findings were the presence of Lewy bodies, cytoplasmic inclusions and axonal spheroids in the brainstem nuclei; pathological changes of spinal cord closely resembled ...
CAVALLARO, Tiziana +4 more
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