| 1. |
- Weiner, D. J., et al.
(författare)
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- 2017
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
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| 2. |
- Anney, R. J. L., et al.
(författare)
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
- 2017
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Ingår i: Molecular Autism. - : Springer Science and Business Media LLC. - 2040-2392. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) < 1.15). Methods: We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls). Results: We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P= 9 x10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23. Conclusions: This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental- related genes such as EXT1, ASTN2, MACROD2, and HDAC4.
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| 3. |
- Zamora, Juan Carlos, et al.
(författare)
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Considerations and consequences of allowing DNA sequence data as types of fungal taxa
- 2018
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Ingår i: IMA Fungus. - : INT MYCOLOGICAL ASSOC. - 2210-6340 .- 2210-6359. ; 9:1, s. 167-185
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Tidskriftsartikel (refereegranskat)abstract
- Nomenclatural type definitions are one of the most important concepts in biological nomenclature. Being physical objects that can be re-studied by other researchers, types permanently link taxonomy (an artificial agreement to classify biological diversity) with nomenclature (an artificial agreement to name biological diversity). Two proposals to amend the International Code of Nomenclature for algae, fungi, and plants (ICN), allowing DNA sequences alone (of any region and extent) to serve as types of taxon names for voucherless fungi (mainly putative taxa from environmental DNA sequences), have been submitted to be voted on at the 11th International Mycological Congress (Puerto Rico, July 2018). We consider various genetic processes affecting the distribution of alleles among taxa and find that alleles may not consistently and uniquely represent the species within which they are contained. Should the proposals be accepted, the meaning of nomenclatural types would change in a fundamental way from physical objects as sources of data to the data themselves. Such changes are conducive to irreproducible science, the potential typification on artefactual data, and massive creation of names with low information content, ultimately causing nomenclatural instability and unnecessary work for future researchers that would stall future explorations of fungal diversity. We conclude that the acceptance of DNA sequences alone as types of names of taxa, under the terms used in the current proposals, is unnecessary and would not solve the problem of naming putative taxa known only from DNA sequences in a scientifically defensible way. As an alternative, we highlight the use of formulas for naming putative taxa (candidate taxa) that do not require any modification of the ICN.
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| 4. |
- Musahl, V., et al.
(författare)
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High-grade rotatory knee laxity may be predictable in ACL injuries
- 2018
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Ingår i: Knee Surgery Sports Traumatology Arthroscopy. - : Springer Science and Business Media LLC. - 0942-2056 .- 1433-7347. ; 26:12, s. 3762-3769
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Tidskriftsartikel (refereegranskat)abstract
- Purpose Lateral compartment acceleration and translation have been used to quantify rotatory knee laxity in the setting of anterior cruciate ligament (ACL) injury; however, their relationship remains elusive. The purpose of this study was to examine the correlation between lateral compartment acceleration and translation during pivot shift testing. It was hypothesized that a correlation would exist in ACL-injured and uninjured knees, irrespective of sex, but would be greatest in knees with combined ACL and lateral meniscus tear. Methods Seventy-seven patients (34 females, 25.2 +/- 9.0 years) undergoing primary single-bundle ACL reconstruction were prospectively enrolled in a 2-year study across four international centers. Patients underwent preoperative examination under anesthesia of the injured and uninjured knee using Image Analysis software and surface mounted accelerometer. Results A moderate correlation between lateral compartment acceleration and translation was observed in ACL-injured knees [rho = 0.36, p < 0.05), but not in uninjured knees (rho = 0.17, not significant (n.s.)]. A moderate correlation between acceleration and translation was demonstrated in ACL-injured knees with lateral meniscus tears (rho = 0.53, p < 0.05), but not in knees with isolated ACL-injury (rho = 0.32, n.s.), ACL and medial meniscus tears (rho = 0.14, n.s.), or ACL and combined medial and lateral meniscus tears (rho = 0.40, n.s.). A moderate correlation between acceleration and translation was seen in males (rho = 0.51, p < 0.05), but not in females (rho = 0.21, n.s.). Largest correlations were observed in males with ACL and lateral meniscus tears (rho = 0.75, p < 0.05). Conclusion Lateral compartment acceleration and translation were moderately correlated in ACL-injured knees, but largely correlated in males with combined ACL and lateral meniscus tears. ACL and lateral meniscus injury in males might, therefore, be suspected when both lateral compartment acceleration and translation are elevated. Surgeons should have a greater degree of suspicion for high-grade rotatory knee laxity in ACL-injured males with concomitant lateral meniscus tears. Future studies should investigate how these two distinct components of rotatory knee laxity-lateral compartment acceleration and translation-are correlated with patient outcomes and affected by ACL surgery.
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| 5. |
- Nilsson, R. Henrik, 1976, et al.
(författare)
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Taxonomic annotation of public fungal ITS sequences from the built environment - a report from an April 10-11, 2017 workshop (Aberdeen, UK)
- 2018
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Ingår i: Mycokeys. - : Pensoft Publishers. - 1314-4057 .- 1314-4049. ; :28, s. 65-82
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Tidskriftsartikel (refereegranskat)abstract
- Recent DNA-based studies have shown that the built environment is surprisingly rich in fungi. These indoor fungi - whether transient visitors or more persistent residents - may hold clues to the rising levels of human allergies and other medical and building-related health problems observed globally. The taxonomic identity of these fungi is crucial in such pursuits. Molecular identification of the built mycobiome is no trivial undertaking, however, given the large number of unidentified, misidentified, and technically compromised fungal sequences in public sequence databases. In addition, the sequence metadata required to make informed taxonomic decisions - such as country and host/substrate of collection - are often lacking even from reference and ex-type sequences. Here we report on a taxonomic annotation workshop (April 10-11, 2017) organized at the James Hutton Institute/University of Aberdeen (UK) to facilitate reproducible studies of the built mycobiome. The 32 participants went through public fungal ITS bar-code sequences related to the built mycobiome for taxonomic and nomenclatural correctness, technical quality, and metadata availability. A total of 19,508 changes - including 4,783 name changes, 14,121 metadata annotations, and the removal of 99 technically compromised sequences - were implemented in the UNITE database for molecular identification of fungi (https://unite.ut.ee/) and shared with a range of other databases and downstream resources. Among the genera that saw the largest number of changes were Penicillium, Talaromyces, Cladosporium, Acremonium, and Alternaria, all of them of significant importance in both culture-based and culture-independent surveys of the built environment.
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| 6. |
- Johansson, Anette, et al.
(författare)
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Prevalence of shoulder pain in Swedish flatwater kayakers and its relation to range of motion and scapula stability of the shoulder joint
- 2016
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Ingår i: Journal of Sports Sciences. - : Informa UK Limited. - 0264-0414 .- 1466-447X. ; 34:10, s. 951-958
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Tidskriftsartikel (refereegranskat)abstract
- Few studies have investigated the incidence of injuries in kayakers. The aim was to study the prevalence of shoulder pain in competitive flatwater kayakers and to evaluate any differences in range of motion or scapula stability of the shoulder joint among kayakers with or without the history of shoulder pain. Thirty-one kayakers were participated in the study, and a questionnaire including background data was used. Shoulder range of motion was measured with a goniometer, and the participants were observed for scapula dyskinesis in flexion and abduction. Of the participating kayakers, 54.8% (n=17) had experienced shoulder pain. Kayakers who had experienced shoulder pain showed a significantly lower degree of internal rotational range of motion versus kayakers with no reported shoulder pain, with a mean degree of internal rotation in the right shoulder 49.3 vs 60.0 (P=0.017) and the left shoulder 51.9 vs 66.0 (P=0.000). Kayakers who had experienced shoulder pain were also observed with a scapular dyskinesis (n=15 of 17 kayakers) to a significantly higher degree (P=0.001) than kayakers with no reported shoulder pain. Findings suggest that screening for scapular dyskinesis and testing for rotational range of motion in the shoulder joint is essential in order to treat and maybe prevent shoulder pain in kayakers.
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| 8. |
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| 9. |
- Spirin, V., et al.
(författare)
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New records of intrahymenial heterobasidiomycetes (Basidiomycota) in north Europe
- 2016
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Ingår i: Nordic Journal of Botany. - : Wiley. - 0107-055X. ; 34:4, s. 475-477
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Tidskriftsartikel (refereegranskat)abstract
- The first records of Occultifur corticiorum, Spiculogloea occulta, S. subminuta (Pucciniomycotina), Phragmoxenidium mycophilum and Serendipita sigmaspora (Agaricomycotina) from Norway and Sweden are presented, and morphological characters and ecology of these species are discussed. In addition, Spiculogloea limonispora and S. minuta are reported as new to Russia, and Serendipita evanescens as new to USA.
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