Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female infant with clinical and laboratory features of ataxia telangiectasia (AT) showed two clinical features exceptional for the disease, i.e. generalized skin pigmentation and an unusually early death at the age of 15 months. Her clinical features supportive of the diagnosis of AT included growth and developmental retardation and muscle weakness. Findings indicating immunodeficiency included recurrent pulmonary infections, failure of PHA stimulation of PB lymphocytes, decreased levels of serum IgM and IgA and on autopsy, an atrophic thymus without Hassall's corpuscles. Her cultured skin fibroblasts showed increased spontaneous chromosome breakages and hypersensitivity to X-ray irradiation, as would be expected for AT fibroblasts. She showed elevated blood HbF levels, macrocytic anaemia, granulocytopenia and thrombocytopenia, findings suggestive of a preleukaemic or leukaemic process. Yet aspirates of her bone marrow revealed no malignant cells. Autopsy revealed bilateral Pneumocystis carinii pneumonia, telangiectatic lesions in all the internal organs studied, sparse and degenerative Purkinje cells in the cerebellar cortex and atrophic ovaries. In view of these findings, it was concluded that the patient had a hitherto undescribed variant of ataxia telangiectasia.
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PMID:Ataxia telangiectasia with generalized skin pigmentation and early death. 373 14

Biomarkers, the measurable indicators of biological conditions, are fast becoming a popular approach in providing information to track disease processes that could lead to novel therapeutic interventions for chronic conditions. Inherited, chronic kidney disease affects millions of people worldwide and although pharmacological treatments exist for some conditions, there are still patients whose only option is kidney dialysis and kidney transplantation. In the past 10 years, certain chronic kidney diseases have been reclassified as ciliopathies. Cilia in the kidney are antenna-like, sensory organelles that are required for signal transduction. One of the signalling pathways that requires the primary cilium in the kidney is Wnt signalling and it has three components such as canonical Wnt, non-canonical Wnt/planar cell olarity (PCP) and non-canonical Wnt/Ca2+ signalling. Identification of the novel role of ATM INteractor (ATMIN) as an effector molecule in the non-canonical Wnt/PCP pathway has intrigued us to investigate its potential role in chronic kidney disease. ATMIN could thus be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression.
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PMID:Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease. 2791 85