Search results for "IFT"
showing 10 items of 2193 documents
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Age-related variation in mobility independence among wheelchair users with spinal cord injury: A cross-sectional study
2016
To evaluate age-related variation in mobility independence among community-living wheelchair users with spinal cord injury (SCI).Community Survey (2011-2013) as part of the Swiss Spinal Cord Injury Cohort Study.Community.Individuals aged 16 years or older with traumatic or non-traumatic SCI permanently residing in Switzerland and using a wheelchair for moving around moderate distances (10-100 m).Not applicable.Mobility-related items of the Spinal Cord Independence Measure-Self Report were matched to the three principal domains "changing basic body position," "transferring oneself" and "moving around." Binary outcomes ("independence" vs. "no independence") were created for every domain and a…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
Prismatic lenses shift time perception
2009
Previous studies have demonstrated the involvement of spatial codes in the representation of time and numbers. We took advantage of a well-known spatial modulation (prismatic adaptation) to test the hypothesis that the representation of time is spatially oriented from left to right, with smaller time intervals being represented to the left of larger time intervals. Healthy subjects performed a time-reproduction task and a time-bisection task, before and after leftward and rightward prismatic adaptation. Results showed that prismatic adaptation inducing a rightward orientation of spatial attention produced an overestimation of time intervals, whereas prismatic adaptation inducing a leftward…
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany
1997
Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany. In the Jewish population, three of these mutations account for more than 90% of all mutated alleles. In addition, relatives of two patients were included in our study. Restriction fragment length polymorphism analysis and sequencing of PCR products obtained from DNA of peripheral blood leukoc…
Basal concentrations and acute responses of serum hormones andstrength development during heavy resistance training in middle-aged andelderly men and…
2000
Effects of 6 months of heavy resistance training combined with explosive exercises on both basal concentrations and acute responses of total and free testosterone, growth hormone (GH), dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), cortisol and sex hormone-binding globulin (SHBG), as well as voluntary neural activation and maximal strength of knee extensors were examined in 10 middle-aged men (M40; 42 +/- 2 years), 11 middle-aged women (W40; 39 +/- 3 years), 11 elderly men (M70; 72 +/- 3 years), and in 10 elderly women (W70; 67 +/- 3 years). The maximal integrated electromyographic (iEMG) and 1 repetition maximum (RM) knee-extension values remained unaltered in all g…
Acute Hormonal Responses to Heavy Resistance Exercise in Men and Women at Different Ages
1995
To examine acute endogenous hormonal responses to heavy resistance exercise eight young women (YW) and eight young men (YM) in the 30-year age group, seven middle-aged women (MW) and eight middle-aged men (MM) in the 50-year age group as well as eight elderly women (EW) and eight elderly men (EM) in the 70-year age group performed a heavy resistance exercise session with three different exercises (bench press, sit-up exercise and bilateral leg press). The relative loading intensity and volume of the exercise session were kept the same for each subject so that they performed each of the 5 sets of each exercise with the maximal load possible for 10 repetitions per set (10 repetition maximum).…
IRF4 regulates IL-17A promoter activity and controls RORγt-dependent Th17 colitis in vivo
2011
The transcription factor IRF4 is involved in several T-cell-dependent chronic inflammatory diseases. To elucidate the mechanisms for pathological cytokine production in colitis, we addressed the role of the IRF transcription factors in human inflammatory bowel disease (IBD) and experimental colitis.IRF levels and cytokine production in IBD patients were studied as well as the effects of IRF4 deficiency in experimental colitis.In contrast to IRF1, IRF5, and IRF8, IRF4 expression in IBD was augmented in the presence of active inflammation. Furthermore, IRF4 levels significantly correlated with IL-6 and IL-17 mRNA expression and to a lesser extent with IL-22 mRNA expression in IBD. To further …
Functional and Postural Lateral Preferences in Humans: Interrelations and Life-Span Age Differences
2002
This study aimed to provide data on lateral preferences among older subjects, to analyze age differences, and to determine interrelations between lateral preferences. Four functional preferences (handedness, footedness, eyedness, earedness) and three postural lateral preferences (hand-clasping, arm-folding, leg-crossing) were assessed in 628 Germans (252 men, 376 women) aged between 19 and 90 years. Sex differences, age differences, and associations between lateralities were analyzed applying chi-square tests. Logistic regression analyses considering age, sex, and interactions between variables were applied to analyze combined effects on laterality measures. Right-sided preference for hande…
Cholinesterase variants: rapid characterisation by PCR/SSCP and evidence for molecular homogeneity.
1995
We have applied the technique of PCR-SSCP (polymerase chain reaction-single stranded conformation polymorphism) to characterise the molecular basis of cholinesterase deficiency and variants in a Jordanian family. PCR-SSCP proved to be a quick and sensitive method of screening cholinesterase variants in a clinical setting. An AG insertion at position 351 was found to cause a silent allele, for which the parents were heterozygous and three children homozygous. In addition, the father and two sons were heterozygous for an A to G transition at position 209, known to cause the dibucaine resistant variant. No linkage to the K variant was found, which has been reported previously in white populati…