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SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series.
Parkinsonism Relat Disord
August 2021
Department of Neurology, Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, 110029, India. Electronic address:
Background: Spinocerebellar ataxia-2 is one of the most prevalent SCA type across the world and one of the commonest in India. We aimed to characterize SCA2 patients both clinically and genetically (ATXN2-CAG repeats and its haplotypic background).
Methods: A total of 436 SCA2 patients were recruited consecutively comprising individuals of multiple ethnicities and two large multigenerational families.
Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.
Cancer Sci
March 2021
Department of Pathology and Cell Biology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
Article Synopsis
- - The study investigates genetic changes in adult T-cell leukemia/lymphoma (ATLL) among 89 Okinawan patients, revealing that they have similar mutation profiles to mainland Japanese patients but show distinct variations compared to North American cases.
- - Okinawan patients frequently exhibit specific mutations (e.g., GATA3 and RHOA) linked to the higher prevalence of the HTLV-1-taxA viral strain, suggesting that this strain may influence mutation rates differently than HTLV-1-taxB found in mainland Japan.
- - Clinically, the research highlights the negative impact of certain genetic alterations on patient outcomes and emphasizes the need for regional considerations in developing effective therapies for ATLL.
The clinical syndrome of dystonia with anarthria/aphonia.
Parkinsonism Relat Disord
March 2016
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK. Electronic address:
Objectives: In dystonia the formulation of a clinical syndrome is paramount to refine the list of etiologies. We here describe the rare association of dystonia with anarthria/aphonia, by examining a large cohort of patients, to provide a narrow field of underlying conditions and a practical algorithmic approach to reach diagnosis.
Methods: We retrospectively reviewed cases, which were evaluated between 2005 and 2014, to identify those with dystonia combined with marked anarthria and/or aphonia.
Comparison of RNA-seq and microarray-based models for clinical endpoint prediction.
Genome Biol
June 2015
Department of Pediatric Oncology and Hematology, University Children's Hospital of Cologne, Kerpener Strasse 62, D-50924, Cologne, Germany.
Background: Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint prediction using neuroblastoma as a model.
Results: We generate gene expression profiles from 498 primary neuroblastomas using both RNA-seq and 44 k microarrays.
Spinocerebellar ataxia 7 (SCA7) in Indian population: predilection of ATXN7-CAG expansion mutation in an ethnic population.
Indian J Med Res
February 2015
Department of Neurology, Neurosciences Centre, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Background & Objectives: Spinocerebellar ataxia 7 (SCA7) is a rare form of neurodegenerative disorder with the clinical manifestation of cerebellar ataxia and retinal degeneration. In this study we describe the clinico-genetic characteristics of nine SCA7 families of Indian origin and cross compare these with other available worldwide studies.
Methods: Thirty five individuals from nine SCA7 families were clinico-genetically characterized and CAG repeat distribution analysis was carried out in 382 control DNA samples from healthy controls (derived from 21 diverse Indian populations based on ethnic and linguistic and geographical location).
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