Results 81 to 90 of about 35,381 (234)

Age of death in ataxia-telangiectasia.

open access: yes, 2022
Age of death in ataxia-telangiectasia.
Emily Petley (12245533)   +4 more
core   +1 more source

Stem cell models in ataxia-telangiectasia [PDF]

open access: yes
: Ataxia-telangiectasia is a rare neurodegenerative disease with a complex phenotype, which has recently been associated with alterations in metabolism, inadequate responses to oxidative stress and inflammation, as well as increased cardiovascular and ...
Talmon, Maria   +2 more
core   +1 more source

Ataxia telangiectasia: what the neurologist needs to know.

open access: yes, 2020
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications.

core   +1 more source

Baicalein Sensitizes Radioresistant BT549 and MCF7‐R Breast Cancer Cells by Modulating Rac1 Signaling

open access: yesPhytotherapy Research, EarlyView.
ABSTRACT Radioresistance remains a key barrier in breast cancer (BC) treatment. Baicalein, a flavonoid from Scutellaria baicalensis, has shown potential to enhance radiosensitivity. This study investigates its efficacy and mechanism in radioresistant BC models. Radioresistant BC cell models were established via fractionated irradiation and validated by
Zitong Zhao   +3 more
wiley   +1 more source

ATAXIA-TELANGIECTASIA - A CASE REPORT

open access: yes, 2005
RESUMO A ataxia-telengiectasia (AT) é uma doença genética, autossómica recessiva, causada pela mutação do gene ATM, localizado no cromosoma 11q22-23.
Veiga, E.   +3 more
core  

Staging concept for aging management: Definition, mechanism, and coping strategies

open access: yesVIEW, EarlyView.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang   +6 more
wiley   +1 more source

Interventional oncology in children: Where are we now?

open access: yesJournal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel   +1 more
wiley   +1 more source

Challenging Physiotherapy for Children with Ataxia Telangiectasia

open access: yes, 2008
The aim of this article is to provide insight in the challenges for physiotherapists in assessment and treatment of the rare, degenerative and grave neurological disease Ataxia Telangiectasia (AT).
Trudy Burgers, Ellen Velema
core  

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

open access: yesClinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree   +18 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

open access: yesInternal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

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