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*  Analysis of the Ataxia Telangiectasia Mutated-Mediated DNA Damage Response in Murine Cerebellar Neurons | Journal of...
Oka A, Takashima S (1998) Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during ... Analysis of the Ataxia Telangiectasia Mutated-Mediated DNA Damage Response in Murine Cerebellar Neurons. Inbal Dar, Sharon ... is supported also by research grants from the Ataxia-Telangiectasia Medical Research Foundation, The Ataxia-Telangiectasia ... Analysis of the Ataxia Telangiectasia Mutated-Mediated DNA Damage Response in Murine Cerebellar Neurons ...
  http://www.jneurosci.org/content/26/29/7767
*  WikiGenes - Ataxia Telangiectasia
ATM, the gene that is mutated in ataxia-telangiectasia, is associated with cerebellar degeneration, abnormal proliferation of ... Gene context of Ataxia Telangiectasia. *Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene ... It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia ... Chemical compound and disease context of Ataxia Telangiectasia. *Relationship of the ataxia-telangiectasia protein ATM to ...
  https://www.wikigenes.org/e/mesh/e/6270.html
*  Paediatric ovarian tumours and their associated cancer susceptibility syndromes | Journal of Medical Genetics
... caused by biallelic mutations in the ATM gene, is associated with progressive cerebellar ataxia, oculocutaneous telangiectasia ... Dysgerminoma in a child with ataxia-telangiectasia. Pediatr Hematol 2007;24:431-6. ... reports describing ovarian germ cell tumours in patients with ataxia-telangiectasia (A-T) have been published.85 86 A-T, ... 56 The WT1 gene is a tumour suppressor gene that encodes a zinc finger transcription factor involved in regulation of early ...
  http://jmg.bmj.com/content/55/1/1
*  Ataxia-telangiectasia syndrome
G11.3 - Cerebellar ataxia with defective DNA repair. SNOMEDCT:. 68504005 - Ataxia-telangiectasia syndrome. Look For. ... ocular and cutaneous telangiectasia, and a predisposition to malignancy. The responsible gene (ATM gene) causes defective DNA ... Ataxia-telangiectasia syndrome. Subscriber Sign In VisualDx Mobile Feedback Select Language Share ... Ataxia-telangiectasia syndrome - External and Internal Eye. Print Images (10) Contributors: Brandon D. Ayres MD, Christopher ...
  https://www.visualdx.com/visualdx/diagnosis/ataxia-telangiectasia%20syndrome?moduleId=21&diagnosisId=51145
*  Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia disease: Malacards - Research Articles, Drugs, Genes, Clinical...
ataxia-telangiectasia 10.0. 11. autosomal recessive cerebellar ataxia 9.9. APTX SETX 12. spinocerebellar ataxia 31 9.8. SACS ... gait ataxia dysarthria limb ataxia cerebellar atrophy oculomotor apraxia cerebellar ataxia, severe trunk ataxia mosy patients ... ataxia with vitamin E deficiency, AOA2, ataxia-telangiectasia, ataxia-telangiectasia-like disorder, autosomal recessive spastic ... is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia ...
  http://www.malacards.org/card/ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia
*  Abnormal White Matter Signal in Ataxia Telangiectasia | American Journal of Neuroradiology
Ataxia telangiectasia is a multisystem disease characterized by cerebellar ataxia, oculomucocutaneous telangiectasias, and ... have ataxia telangiectasia. Studies investigating the function of the ataxia telangiectasia mutated gene have suggested its ... Boder E, Sedgwick R. Ataxia-telangiectasia: a familial syndrome of cerebellar ataxia, oculocutaneous telangiectasias and ... Boder E. Ataxia-telangiectasia: an overview. In: Gatti RA, Swift M, eds. Ataxia-Telangiectasia: Genetics, Neuropathology and ...
  http://www.ajnr.org/content/21/8/1483
*  MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. | Sigma...
Hypomorphic mutations of the MRE11 gene are the hallmark of the radiosensitive ataxia-telangiectasia-like disorder (ATLD). Here ... They presented with late onset cerebellar degeneration slowly progressing until puberty and absence of telangiectasias, and ... MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.. [Domenico ... which rationalizes the clinical similarity between ataxia-telangiectasia (A-T) and ATLD. ...
  https://www.sigmaaldrich.com/catalog/papers/15269180
*  ATM mutations in Finnish breast cancer patients | Journal of Medical Genetics
Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. Clin Genet1999;55:289-304. ... 11 It is characterised by progressive cerebellar ataxia, telangiectasias, sensitivity to ionising radiation, and ... Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder ... Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Am J Hum ...
  http://jmg.bmj.com/content/39/3/192
*  Ataxia-telangiectasia facts, information, pictures | Encyclopedia.com articles about Ataxia-telangiectasia
Make research projects and school reports about Ataxia-telangiectasia easy with credible articles from our FREE, online ... and pictures about Ataxia-telangiectasia at Encyclopedia.com. ... The onset of cerebellar ataxia (unsteadiness and lack of ... "Inactivation of Ataxia Tlangiectasia Mutated Gene in B-cell Chronic Lymphocytic Leukaemia." Lancet 353 (January 2, 1999): 26-29 ... Ataxia-Telangiectasia. Definition. Ataxia-telangiectasia (A-T), also called Louis-Bar syndrome, is a rare, genetic neurological ...
  https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/ataxia-telangiectasia
*  Oculomotor apraxia - Wikipedia
Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal cell death in ... Le Ber, I, Brice, A, Dürr, A. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Current Neurology and ... These are ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia 2 (AOA2), and ataxia telangiectasia. ... Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and, ...
  https://en.wikipedia.org/wiki/Oculomotor_apraxia
*  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders | Clinical Cancer Research
... ataxia-telangiectasia mutated) gene, which encodes a protein belonging to the phosphatidylinositol-3 kinase (PI3) protein ... Patients with A-T require multidisciplinary care including referrals to (i) neurology for progressive cerebellar ataxia, ocular ... Ataxia Telangiectasia. Genetic summary. Ataxia telangiectasia (AT; OMIM #208900) is an autosomal-recessive (AR) disorder ... Ataxia-telangiectasia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews [ ...
  http://clincancerres.aacrjournals.org/content/23/11/e23?utm_source=fulltext&utm_medium=landingpage4&utm_campaign=peds
*  Ataxia-Telangiectasia in Ophthalmology Clinical Presentation: History, Physical, Causes
... is an autosomal recessive genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and ... in the literature was a 9-year-old child with progressive cerebellar ataxia and bilateral oculocutaneous telangiectasia re... ... Ataxia-telangiectasia is caused by mutations in the ATM (ataxia telangiectasia mutated) gene, which has been localized to band ... Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent ...
  https://emedicine.medscape.com/article/1219140-clinical
*  Ataxia-telangiectasia - Wikipedia
Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be ... "Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons". The Journal of ... Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... A-T is caused by mutations in the ATM (ATM serine/threonine kinase or ataxia-telangiectasia mutated) gene, which was cloned in ...
  https://en.wikipedia.org/wiki/Ataxia-telangiectasia
*  Development of a Porcine Model of Ataxia-Telangiectasia | SBIR.gov
It is characterized primarily by early onset cerebellar ataxia andtelangiectasia, from which the disease name is derived. In ... A number of mouse models of A-T have been developed over the years by the targeted disruption of the mouse Atm gene, and these ... This project is intended to produce a porcine model of ataxia-telangiectasia that will provide academic and industry ... DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that ...
  https://www.sbir.gov/sbirsearch/detail/389429
*  Canine Hereditary Ataxia--The Hunt for the Genes - TUFTSBG2007 - VIN
... ataxia with oculomotor apraxia types 1 and 2, ataxia telangiectasia, autosomal spastic ataxia of Charlevoix-Saguenay, Marinesco ... and this group of diseases can also be referred to as hereditary ataxia, spinocerebellar ataxia or cerebellar cortical ... For example, Friedreich's ataxia causes a cardiomyopathy, and ataxia telangiectasia is associated with immune deficiency. ... However, the possible genome-wide list of candidate genes includes more than 50 genes, and as sequencing one gene in affected ...
  https://www.vin.com/apputil/content/defaultadv1.aspx?pId=11243&meta=Generic&catId=31943&id=3861468&ind=10&objTypeID=17
*  Most recent papers in the journal Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences | Read by...
Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive ... cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed ... A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. ... www.readbyqxmd.com/read/29664460/a-novel-variant-in-atm-gene-causes-ataxia-telangiectasia-revealed-by-whole-exome-sequencing ...
  https://www.readbyqxmd.com/journal/41112
*  BioDiscovery ATM in focus: A damage sensor and cancer target
Oka A, Takashima S. Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. ... Central to DDR is the Ataxia telangiectasia mutated gene that codes for Ataxia telangiectasia mutated protein (ATM), a 370 kDa ... Gene Ther 2004; 11(1): 25-33.. Reference Link. *Meyn MS. Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene. ... Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Proc Natl Acad Sci USA 1999; 96(17): ...
  http://biodiscoveryjournal.co.uk/Archive/A18.htm
*  Encyclopedia of Movement Disorders | R2 Digital Library
Ataxia with Isolated Vitamin E Deficiency * Ataxia-Telangiectasia * Ataxin * Athetosis * ATM Gene ... Ataxia (Familial Cerebellar) with Muscle CoQ 10 Deficiency * ... Cayman Ataxia * Central Nervous System Stimulants and Movement ...
  https://www.r2library.com/Resource/Title/0123741017
*  ATM serine/threonine kinase - Wikipedia
NIH/UW entry on Ataxia telangiectasia OMIM entries on Ataxia telangiectasia Human ATM genome location and ATM gene details page ... Ataxia telangiectasia (AT) is a rare human disease characterized by cerebellar degeneration, extreme cellular sensitivity to ... DNA repair Ataxia telangiectasia Ataxia telangiectasia and Rad3 related GRCh38: Ensembl release 89: ENSG00000149311 - Ensembl, ... ataxia-telangiectasia mutated, reflected that the disorder ataxia-telangiectasia is caused by mutations of ATM. Throughout the ...
  https://en.wikipedia.org/wiki/ATM_serine/threonine_kinase
*  Drosophila Models of Human Disease: Review -- Relevance of circadian rhythm gene Timeless to human health and disease
Ataxia with spasticity and mitochondrial defects (1) * Ataxia-telangiectasia (2) * Atrial Fibrillation (1) ... Autosomal recessive cerebellar ataxia (1) * autosomal recessive intellectual disability (1) * Bardet-Biedl syndrome (1) ... From the abstract: "The Timeless (Tim) gene, originally identified in Drosophila melanogaster and subsequently in mammals, is ... Review -- Relevance of circadian rhythm gene Timeless to human health and disease ...
  http://flydiseasemodels.blogspot.com/2016/12/relevance-of-circadian-rhythm-gene.html
*  ATM activates the pentose phosphate pathway promoting anti‐oxidant defence and DNA repair | The EMBO Journal
Shackelford RE, Innes CL, Sieber SO, Heinloth AN, Leadon SA, Paules RS (2001) The Ataxia telangiectasia gene product is ... In ataxia‐teleangiectasia betamethasone response is inversely correlated to cerebellar atrophy and directly to antioxidative ... Biton S, Dar I, Mittelman L, Pereg Y, Barzilai A, Shiloh Y (2006) Nuclear AtaxiaTelangiectasia Mutated (ATM) mediates the ... Rotman G, Shiloh Y (1997) Ataxiatelangiectasia: is ATM a sensor of oxidative damage and stress? Bioessays 19: 911-917. ...
  http://emboj.embopress.org/content/30/3/546?ijkey=ff5acdfe3406acb5eb0acb7a2008099fd712db61&keytype2=tf_ipsecsha
*  Ataxia Telangiectasia (Louis-Bar syndrome)
Ataxia telangiectasia is caused by biallelic mutations in the ATM gene. Pathophysiology. The ATM gene is a controller of the ... regarding a 9-year-old Belgian boy with progressive cerebellar ataxia and extensive cutaneous telangiectasia distributed in ... The ATM gene, which is mutated in the autosomal recessive disorder ataxia telangiectasia [AT], was identified by positional ... Savitsky, K, Bar-Shira, A, Gilad, S, Rotman, G, Ziv, Y, Vanagaite, L. "A single Ataxia Telangiectasia gene with a product ...
  http://www.clinicalpainadvisor.com/dermatology/ataxia-telangiectasia-louis-bar-syndrome/article/593254/
*  Immunodeficiencies
Ataxia-Telangiectasia. * mutation in ATM gene. * staffering gait with abnormal vascular dilation ... Typical telangiectasia (ear lobes, conjuctivae). * progressive cerebellar ataxia. * Di-George syndrome. * congenital thymic ...
  https://coggle.it/diagram/Wex4QXiayQABb80G/t/immunodeficiencies
*  A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation ... A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional ... A single ataxia telangiectasia gene with a product similar to PI-3 kinase. ... indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 ...
  https://publications.ncats.nih.gov/publications/7792600
*  Autosomal recessive cerebellar ataxia type 1 - Wikipedia
... can be performed to identify the mothers carrying the recessive genes for cerebellar ataxia. Different types of ataxia: ... Ataxia with telangiectasia is a rare form ataxia that causes chromosomal instability, sensitivity to ionizing radiation, ... ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 "Autosomal Recessive Cerebellar Ataxias." Fracis, Palau ... ataxias with metabolic disorders ataxias with a DNA repair defect degenerative ataxias ataxia associated with other features. ...
  https://en.wikipedia.org/wiki/Autosomal_recessive_cerebellar_ataxia_type_1