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Samuel Pouplin, Nicolas Roche, Caroline Hugeron, Isabelle Vaugier, Djamel Bensmail
BACKGROUND: For people with cervical spinal cord injury (SCI), access to computers can be difficult, thus several devices have been developed to facilitate their use. However, text input speed remains very slow compared to users who do not have a disability, even with these devices. Several methods have been developed to increase text input speed, such as word prediction software (WPS). Health-related professionals (HRP) often recommend this type of software to people with cervical SCI...
February 2016: European Journal of Physical and Rehabilitation Medicine
Elizabeth P Murchison, David J Adams
Sequencing of the tammar wallaby (Macropus eugenii) reveals insights into genome evolution, and mammalian reproduction and development.
2011: Genome Biology
Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo
BACKGROUND: The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients. METHODS: Forty-eight male patients from 38 unrelated families with a PLP1-related disorder were studied...
June 16, 2011: Orphanet Journal of Rare Diseases
Adam Woolfe, James C Mullikin, Laura Elnitski
BACKGROUND: Single point mutations at both synonymous and non-synonymous positions within exons can have severe effects on gene function through disruption of splicing. Predicting these mutations in silico purely from the genomic sequence is difficult due to an incomplete understanding of the multiple factors that may be responsible. In addition, little is known about which computational prediction approaches, such as those involving exonic splicing enhancers and exonic splicing silencers, are most informative...
2010: Genome Biology
N Anaya, M I Roncero
Rearrangement of fusarium oxysporum retrotransposon skippy was induced by growth in the presence of potassium chlorate. Three fungal strains, one sensitive to chlorate (Co60) and two resistant to chlorate and deficient for nitrate reductase (Co65 and Co94), were studied by Southern analysis of their genomic DNA. Polymorphism was detected in their hybridization banding pattern, relative to the wild type grown in the absence of chlorate, using various enzymes with or without restriction sites within the retrotransposon...
November 27, 1996: Molecular & General Genetics: MGG
N Anaya, M I Roncero
A retrotransposon from the fungal plant pathogen Fusarium oxysporum f. sp. lycopersici has been isolated and characterized. The element, designated skippy (skp) is 7846 bp in length, flanked by identical long terminal repeats (LTR) of 429 bp showing structural features characteristic of retroviral and retrotransposon LTRs. Target-site duplications of 5 bp were found. Two long overlapping open reading frames (ORF) were identified. The first ORF, 2562 bp in length, shows homology to retroviral gag genes. The second ORF, 3888 bp in length, has homology to the protease, reverse transcriptase...
December 20, 1995: Molecular & General Genetics: MGG
G Mühlberger
The squamous cell carcinoma of the uterine cervix was examined in 167 cases with the regard to the spreading and the dependence of metastazation on the size of the primary tumor. Up to a primary tumor size of 5 + 10 + 10 mm a metastazation of 1,58% in the lymph nodes, of 30,9% at stage Ib and of 57,6% at stage II was found. The metastazation rate from one stage to the other seems not to be continuously but skippy. The hysterectomy seems to be an entirely sufficient therapy in case of a microcarcinoma, provided that accurate three-dimensional measurement proves that the size does not exceed 5 + 10 + 10 mm...
January 1975: Geburtshilfe und Frauenheilkunde
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