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  • 1
    Publication Date: 2016-07-08
    Description: Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which were scattered on genome assembly unassigned scaffolds. Read depth analysis at these loci revealed homozygosity or compound heterozygosity for two partially overlapping large deletions in the pseudoautosomal region (PAR) of chromosome X/Y in cases but not in the control pool. One of these deletions removes the entire coding region of the SHOX gene and both deletions remove parts of the CRLF2 gene located downstream of SHOX. The horse reference assembly of the PAR is highly fragmented, and in order to characterize this region we sequenced bacterial artificial chromosome (BAC) clones by single-molecule real-time (SMRT) sequencing technology. This considerably improved the assembly and enabled size estimations of the two deletions to 160–180 kb and 60–80 kb, respectively. Complete association between the presence of these deletions and disease status was verified in eight other affected horses. The result of the present study is consistent with previous studies in humans showing crucial importance of SHOX for normal skeletal development.
    Electronic ISSN: 2160-1836
    Topics: Biology
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  • 2
    Publication Date: 2024-01-12
    Description: The genera Gomphocalyx and Phylohydrax (Rubiaceae) have been invariably placed in the tribe Spermacoceae s.s. based on the uni-ovulate ovary locules and pluri-aperturate pollen grains. Sequence data from the rps16 intron and the rbcL gene here presented exclude Gomphocalyx and Phylohydrax from Spermacoceae s.s. The two genera are closely related and their nearest relatives are found among members of the former tribe Hedyotideae. This position may be surprising at first, because the growth form of Phylohydrax is similar to some observed in Spermacoceae s.s. A detailed survey of morphological and anatomical characters shows, however, that the character states of the two genera are largely consistent with the here-proposed position in Hedyotideae. The creeping growth form, the uni-ovulate ovaries and the pluri-colporate pollen grains of Gomphocalyx and Phylohydrax are the result of convergence between this pair of genera and Spermacoceae s.s. The taxonomic position of Lathraeocarpa, sometimes considered closely related to Gomphocalyx, is also discussed.
    Keywords: convergent evolution ; Gomphocalyx ; Hydrophylax ; Phylohydrax ; Rubiaceae ; Spermacoceae
    Repository Name: National Museum of Natural History, Netherlands
    Type: info:eu-repo/semantics/article
    Format: application/pdf
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  • 3
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Biochemistry 20 (1981), S. 849-855 
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Journal of natural products 50 (1987), S. 944-947 
    ISSN: 1520-6025
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Immunogenetics 36 (1992), S. 202-202 
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Immunogenetics 47 (1997), S. 23-29 
    ISSN: 1432-1211
    Keywords: Key words BdA ; MHC ; Cattle ; Roe deer DRB ; Deletion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  One of the most common cattle major histocompatibility complex DRB3 alleles, * 0201, includes a deletion of codon 65 encoding one residue in the α-helical chain. The mutation is functionally interesting and is likely to influence peptide binding. Exon 2 of two additional del65 alleles, * 3301 and * 4101, have now been sequenced with the aim to investigate the evolutionary relationship of this allelic group. Despite a fairly large genetic distance between the three alleles (11–17 nucleotide substitutions causing 8–11 amino acid substitutions) we found clear indications of a common ancestry. The α-helical region was very similar or identical among the alleles whereas the β-strand region was quite divergent. The results indicated that interallelic recombination has contributed to the diversification of the del65 group. Deletion of codon 65 has also been found in a roe deer DRB1 allele and a cattle DQB3 allele. Sequence comparisons of the cattle and roe deer DRB del65 alleles refuted the possibility of a trans-species persistence of a del65 allelic lineage but the two species may share a short ancestral sequence motif including del65. In addition to del65, the cattle DQB3 allele did not show any striking sequence similarities to the DRB alleles.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 43 (1992), S. 347-350 
    ISSN: 1432-1041
    Keywords: Ibuprofen ; Codeine ; Analgesia ; acetylsalicylic acid ; dental ; postoperative pain ; drug combination ; adverse events
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary A double-blind, randomised analgesic trial was carried out in 165 patients undergoing surgical removal of one impacted lower wisdom tooth. In a two-dose regimen, the analgesic efficacy of the combination ibuprofen-codeine 200 mg : 30 mg was compared with that of acetylsalicylic acid-codeine 500 mg : 30 mg and codeine 30 mg. Each dose was taken when the patient needed pain relief. The intensity of the pain was measured on a visual analogue scale during the 10-h period after the first dose. The mean pain reduction by Dose 1 in patients on ibuprofen-codeine, acetylsalicylic acid-codeine and codeine was 64%, 45% and 26%, respectively, and the mean duration of effect was 8.3, 6.3 and 5.6 h. According to the pain reduction, duration of effect and pain reduction index after Doses 1 and 1 + 2. there was a significant difference between ibuprofen-codeine and the other two drugs. The maximum pain reduction within 4 hours was 84% with ibuprofen-codeine. This was significantly different from the reduction achieved both with acetylsalicylic acid-codeine (64 %) and codeine (35 %). Seventeen patients reported adverse events: 5 on ibuprofen-codeine, 4 on acetylsalicylic acid-codeine and 8 on codeine. The most common events were tiredness and vertigo. It is concluded that the combination ibuprofen-codeine 200 mg :30 mg had greater analgesic efficacy compared to the combination acetylsalicylic acid-codeine 500 mg : 30 or codeine 30 mg in patients with pain after removal of the lower third molars.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 115 (2001), S. 1158-1165 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: We introduce a discretized coherent state representation (DCSR) for quantum dynamics. Expansion of a wave function in the nonorthogonal slightly overcomplete set is made with an identity operator computed using an iterative refinement method. Calculating the inverse of the overlap matrix is not necessary. The result is an accurate and efficient representation, where you only put basis functions in the region of phase space where the wave function is nonvanishing. Compared to traditional spatial grid methods, fewer grid points are needed. The DCSR can be viewed as an application of the Weyl–Heisenberg frame and extends it into a useful computational method. A scheme for fully quantum mechanical propagation is constructed and applied to the realistic problem of highly excited vibration in the heavy diatomic molecule Rb2. Compared to split-operator propagation in a conventional spatial grid, an order of magnitude longer time steps can be taken and fewer grid points are needed. The computational effort scales linearly with the number of basis functions. Nonreflecting boundary conditions are a natural property of the representation and is illustrated in a model of predissociation. © 2001 American Institute of Physics.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Polymorphism of the bovine DRB, DQA, DQB, DYA, DOB and DIB genes was investigated using restriction fragment length polymorphism (RFLP) analysis, isoelectric focusing (IEF), class II serology and polymerase chain reaction (PCR) based typing techniques. The simultaneous application of multiple typing techniques and the characterization of multiple genes resulted in a greatly enhanced picture of the bovine class II regions. Thirty-eight class IIa (DR-DQ) and 5 class lib (DYA-DOB-DIB) haplotypes were defined. It was found that IEF types were associated with DRB3 polymorphism defined by DRB3 PCR-RFLP and DRB3 microsatellite PCR. Serologically defined polymorphism was associated with distinct molecular/IEF motifs and, therefore, DR and DQ specificities could be tentatively distinguished. Although the DR and DQ genes are tightly linked, neither DR nor DQ typing defined all of the class IIa region polymorphism. Furthermore, even the most powerful DRB3 typing technique, DRB3 PCR-RFLP, failed to detect all expressed DRB3 polymorphism. All detected DRB3 polymorphism could, however, be distinguished with a combination of two molecular techniques: DRB3 PCR-RFLP and DRB3 microsatellite PCR. RFLP typing with transmembrane probes detected significantly less polymorphism than typing with cDNA or exon probes. However, the transmembrane probes were useful because they were locus specific. The presence of only 5 of 12 possible class lib haplotypes was unexpected and indicates that the DYA, DOB and DIB genes are tightly linked.
    Type of Medium: Electronic Resource
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