1,506 research outputs found
Data sets and syntax for: "Meitinger, K. & Kunz, T. Visual Design and Cognition in List-Style Open-Ended Questions in Web Probing. Sociological Methods & Research”
No full textData for the article "Visual Design and Cognition in List-Style Open-Ended Questions in Web Probing" (Meitinger & Kunz, forthcoming) published in Sociological Methods & Research Abstract of article: Previous research reveals that the visual design of open-ended questions should match the response task so that respondents can infer the expected response format. Based on a web survey including specific probesin a list-style open-ended question format, we experimentally tested the effects of varying numbers of answer boxes on several indicators of response quality. Our results showed that using multiple small answer boxes instead of one large box had a positive impact on the number and variety of themes mentioned, as well as on the conciseness of responses to specific probes. We found no effect on the relevance of themes and the risk of item non-response. Based on our findings, we recommend using multiple small answer boxes instead of one large box to convey the expected response format and improve response quality in specific probes. This study makes a valuable contribution to the field of web probing, extends the concept of response quality in list-style open-ended questions, and provides a deeper understanding of how visual design features affect cognitive response processes in web surveys. Data for the article "Visual Design and Cognition in List-Style Open-Ended Questions in Web Probing" (Meitinger & Kunz, forthcoming) published in Sociological Methods & Research Abstract of article: Previous research reveals that the visual design of open-ended questions should match the response task so that respondents can infer the expected response format. Based on a web survey including specific probesin a list-style open-ended question format, we experimentally tested the effects of varying numbers of answer boxes on several indicators of response quality. Our results showed that using multiple small answer boxes instead of one large box had a positive impact on the number and variety of themes mentioned, as well as on the conciseness of responses to specific probes. We found no effect on the relevance of themes and the risk of item non-response. Based on our findings, we recommend using multiple small answer boxes instead of one large box to convey the expected response format and improve response quality in specific probes. This study makes a valuable contribution to the field of web probing, extends the concept of response quality in list-style open-ended questions, and provides a deeper understanding of how visual design features affect cognitive response processes in web surveys. <br
Data sets and syntax for: "Meitinger, K. & Kunz, T. Visual Design and Cognition in List-Style Open-Ended Questions in Web Probing. Sociological Methods & Research\u201d
No full textData for the article "Visual Design and Cognition in List-Style Open-Ended Questions in Web Probing" (Meitinger & Kunz, forthcoming) published in Sociological Methods & Research
Abstract of article:
Previous research reveals that the visual design of open-ended questions
should match the response task so that respondents can infer the
expected response format. Based on a web survey including specific
probesin a list-style open-ended question format, we experimentally
tested the effects of varying numbers of answer boxes on several
indicators of response quality. Our results showed that using multiple
small answer boxes instead of one large box had a positive impact on
the number and variety of themes mentioned, as well as on the
conciseness of responses to specific probes. We found no effect on the
relevance of themes and the risk of item non-response. Based on our
findings, we recommend using multiple small answer boxes instead of
one large box to convey the expected response format and improve
response quality in specific probes. This study makes a valuable
contribution to the field of web probing, extends the concept of response
quality in list-style open-ended questions, and provides a deeper
understanding of how visual design features affect cognitive response
processes in web surveys. Data for the article "Visual Design and Cognition in List-Style Open-Ended Questions in Web Probing" (Meitinger & Kunz, forthcoming) published in Sociological Methods & Research
Abstract of article:
Previous research reveals that the visual design of open-ended questions
should match the response task so that respondents can infer the
expected response format. Based on a web survey including specific
probesin a list-style open-ended question format, we experimentally
tested the effects of varying numbers of answer boxes on several
indicators of response quality. Our results showed that using multiple
small answer boxes instead of one large box had a positive impact on
the number and variety of themes mentioned, as well as on the
conciseness of responses to specific probes. We found no effect on the
relevance of themes and the risk of item non-response. Based on our
findings, we recommend using multiple small answer boxes instead of
one large box to convey the expected response format and improve
response quality in specific probes. This study makes a valuable
contribution to the field of web probing, extends the concept of response
quality in list-style open-ended questions, and provides a deeper
understanding of how visual design features affect cognitive response
processes in web surveys. <br
Kalig-1 is the Kallmann syndrome gene: formal evidence provided by a patient with an intragenic deletion.
No full textMutational hot spot within a new <em>RPGR</em> exon in X-linked retinitis pigmentosa.
No full textThe gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10-20% of patients with the progressive retinal degeneration X-linked retinitis pigmentosa (XLRP). The mutations predominantly affected a domain homologous to RCC1, a guanine nucleotide exchange factor for the small GTPase Ran, although they were present in fewer than the 70-75% of XLRP patients predicted from linkage studies. Mutations in the RP2 locus at Xp11.3 were found in a further 10-20% of XLRP patients, as predicted from linkage studies. Because the mutations in the remainder of the XLRP patients may reside in undiscovered exons of RPGR, we sequenced a 172-kb region containing the entire gene. Analysis of the sequence disclosed a new 3' terminal exon that was mutated in 60% of XLRP patients examined. This exon encodes 567 amino acids, with a repetitive domain rich in glutamic acid residues. The sequence is conserved in the mouse, bovine and Fugu rubripes genes. It is preferentially expressed in mouse and bovine retina, further supporting its importance for retinal function. Our results suggest that mutations in RPGR are the only cause of RP3 type XLRP and account for the disease in over 70% of XLRP patients and an estimated 11% of all retinitis pigmentosa patients
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q131.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
No full textWe report the molecular characterization of a patient with Kallmann syndrome and bone anomalies bearing a balanced de novo translocation t(7;9)(p14.1;q31.3) which completely disrupts the A-kinase anchor protein 2 gene (AKAP2) on chromosome 9. In order to investigate the role of AKAP2 in the pathogenesis of the disease, we analyzed the expression of Akap2 in mouse embryos. The expression pattern was consistent with the phenotype observed and mAkap2 was actually found in the olfactory bulb and in the cartilagineous structures of the embryo. Since AKAP2 is supposed to bind and compartmentalize the PKA, we also analyzed the distribution and quantity of PKA in limpho-
blastoid cell lines of the patient compared with a control; these experiments did not demonstrate any differences between the cell lines. Furthermore a collection of 98 DNA samples from sporadic Kallmann patients was screened for mutations in this gene. The analysis revealed two different sequence variations observed in two patients but not in 200 control chromosomes: since they have been detected also in the unaffected mother of one of the two patients we can assume that they are rare polymorphisms, although we cannot exclude that they represent mutations with incomplete penetrance. Our findings suggest that the complex phenotype with Kallmann syndrome and bone anomalies observed in our patient could be the result of the interruption of the AKAP2 gene. However, a position effect mediated by the translocation could not be excluded. The screening of AKAP2 in other Kallmann patients will be necessary to elucidate its role in the pathogenesis of the disease
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse
No full textRod-specific cGMP phosphodiesterase (PDE) is a key enzyme of the phototransduction cascade, and mutations in its catalytic subunits have been associated with retinal degenerative diseases, The bovine Q-subunit solubilises the normally membrane-bound PDE and is the only subunit expressed in extraocular tissues, We isolated the human and mouse orthologs, and found 78% identity at the DNA level and 98% identity at the protein level, The Caenorhabditis elegans homolog shows 69% identity at the protein level, The human PDED gene consisted of 5 exons spanning at least 30 kb of genomic DNA, Northern blot analysis showed a 1,3 kb transcript in human retina, heart, brain, placenta, liver, and skeletal muscle, Fluorescence in situ hybridisation (FISH) and radiation hybrid mapping localised the human PDED gene to chromosome 2q37, A preliminary screen of all 5 exons in 20 unrelated patients with autosomal recessive retinitis pigmentosa revealed no PDED mutations
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
No full textWe report the molecular characterization of a patient with Kallmann syndrome and bone anomalies bearing a balanced de novo translocation t(7;9)(p14.1;q31.3) which completely disrupts the A-kinase anchor protein 2 gene (AKAP2) on chromosome 9. In order to investigate the role of AKAP2 in the pathogenesis of the disease, we analyzed the expression of Akap2 in mouse embryos. The expression pattern was consistent with the phenotype observed and mAkap2 was actually found in the olfactory bulb and in the cartilagineous structures of the embryo. Since AKAP2 is supposed to bind and compartmentalize the PKA, we also analyzed the distribution and quantity of PKA in limphoblastoid cell lines of the patient compared with a control; these experiments did not demonstrate any differences between the cell lines. Furthermore a collection of 98 DNA samples from sporadic Kallmann patients was screened for mutations in this gene. The analysis revealed two different sequence variations observed in two patients but not in 200 control chromosomes: since they have been detected also in the unaffected mother of one of the two patients we can assume that they are rare polymorphisms, although we cannot exclude that they represent mutations with incomplete penetrance. Our findings suggest that the complex phenotype with Kallmann syndrome and bone anomalies observed in our patient could be the result of the interruption of the AKAP2 gene. However, a position effect mediated by the translocation could not be excluded. The screening of AKAP2 in other Kallmann patients will be necessary to elucidate its role in the pathogenesis of the disease
Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate.
No full textGenetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two-step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty-eight patients (59.6%) had at least one affected first-degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS
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