Results 191 to 200 of about 77,321 (235)
Hypoxia facilitates triple-negative breast cancer stem cells enrichment and stemness maintenance through oxidized ataxia telangiectasia mutated-induced one-carbon metabolism. [PDF]
World J Stem CellsYang D +6 more
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An Unusual Case of Chronic Delimited Rhinosinusal Mucormycosis With Secondary Cutaneous Involvement in a Patient With Ataxia-Telangiectasia Syndrome. [PDF]
CureusAbdala Mendoza FY +6 more
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Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes. [PDF]
Orphanet J Rare DisBakır DB +6 more
europepmc +1 more source
Ataxia Telangiectasia with Giant Suprasellar Arachnoid Cyst - A Case Report and a Brief Review. [PDF]
Iran J Child NeurolAshrafi MR +6 more
europepmc +1 more source
Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia
Antioxidants, 2022 The ataxia-telangiectasia mutated (ATM) protein kinase is, as the name implies, mutated in the human genetic disorder ataxia-telangiectasia (A-T). This protein has its “finger in many pies”, being responsible for the phosphorylation of many ...
David Coman +1 more
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Dermatologic Clinics, 1995
Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
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Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
openaire +2 more sources
Archives of Neurology, 1978
Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to
openaire +2 more sources
Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to
openaire +2 more sources
Ophthalmologica, 2010
A 7-year-old girl with ataxia telangiectasia is described. The characteristic clinical features suggested the disease but did not seem definite enough to diagnose the disease with certainty in its early stages. Arguments are advanced to suggest that our presently accepted diagnostic criteria in this condition are confirmed by computerized tomography ...
P, Nemet +3 more
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A 7-year-old girl with ataxia telangiectasia is described. The characteristic clinical features suggested the disease but did not seem definite enough to diagnose the disease with certainty in its early stages. Arguments are advanced to suggest that our presently accepted diagnostic criteria in this condition are confirmed by computerized tomography ...
P, Nemet +3 more
openaire +2 more sources
Pediatrics, 1957
This paper based on eight cases and a necropsy report presents a familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report. The main features are progressive cerebellar ataxia with onset in infancy; progressive telangiectasia of the bulbar conjunctivae ...
E Boder, R P Sedgwick
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This paper based on eight cases and a necropsy report presents a familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report. The main features are progressive cerebellar ataxia with onset in infancy; progressive telangiectasia of the bulbar conjunctivae ...
E Boder, R P Sedgwick
openaire +1 more source
Ataxia telangiectasia with granulocytopenia
The Journal of Pediatrics, 1970A case of ataxia telangiectasia associated with granulocytopenia is described; the possibility that the thymic defect was causally related to the granulocytopenia is discussed. The patient's death at 30 months of age following the development of a reticulum cell sarcoma is the earliest reported malignancy-associated death of a patient with this disease.
R D, Feigin +4 more
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