... Saethre-Chotzen Syndrome: Clinical andMolecular Genetic Aspects Kress, W.; Collmann, H (Würzburg) Chapter 10 Craniofrontonasal Syndrome: Molecular Genetics, EFNB1MutationsandtheConceptofCellularInterference ... al defined these expression domains further by determining the expression patterns ofthe IIIb and IIIc isoforms of each of these receptors [42] In many areas ofthe embryo the IIIb and IIIc FGF ... by virtue ofthe dramatic consequences of their dysregulation The primary focus of this review then is on regulation of bone growth in the cranium by these three families: The ephrins, the fibroblast...
... used the fixed-effects model andthe random-effects model based on the Mantel-Haenszel method andthe DerSimonian and Laird method, respectively, to combine values from each ofthe studies When the ... homogenous, the fixed-effects model was then used; otherwise, the random-effects model was more appropriate We also computed the power ofthe selected studies by using the DSTPLAN4.2 software, in ... evaluated the risk ofthe variant genotypes (Pro/Pro, Val/ Val), compared with the wild-type genotype (Arg/Arg, Ile/ Ile) Then we calculated the ORs ofthe polymorphisms, using both dominant and recessive...
... independently of concentration and type of salt The three single mutants also presented the same profiles In the presence of NaCl, the recovery of activity was always higher than with KCl; andthe highest ... ofthe chelating agent, the enzyme is completely inactive, regardless ofthe NaCl concentration Therefore, the substitution of D38 by C38 in the protein has weakened the binding of zinc ion The ... between the protein andthe 2’-phosphate of NADP+ andthe 2’- and 3’hydroxyls of NAD+ (Chen et al., 1995) In the NAD-binding site, the introduction of positively charged residues changes the preference...
... eliminate the possibility ofthe functional roles ofthe )643T>C and )1219G>A SNPs as part ofthe extended APOH promoter transcriptional machinery To further substantiate the functional relevance ofthe ... conjunction with the luciferase gene in pGL3basic vector The nucleotides are numbered from the translation start site The effect ofthe wild-type and mutants was measured as the mean ofthe firefly luciferase ... tested 12 ofthe 14 sequence variants located within the 1418 bp ofthe 5¢ flanking region of APOH for allele-specific regulatory effects on the expression ofthe dual luciferase reporter gene and by...
... independently of concentration and type of salt The three single mutants also presented the same profiles In the presence of NaCl, the recovery of activity was always higher than with KCl; andthe highest ... ofthe chelating agent, the enzyme is completely inactive, regardless ofthe NaCl concentration Therefore, the substitution of D38 by C38 in the protein has weakened the binding of zinc ion The ... between the protein andthe 2’-phosphate of NADP+ andthe 2’- and 3’hydroxyls of NAD+ (Chen et al., 1995) In the NAD-binding site, the introduction of positively charged residues changes the preference...
... comprised of three cells, the excretory cell, the duct cell andthe pore cell [8] Destruction of any of these cells by laser ablation causes the animal to swell with fluid and die [9] The excretory ... anteriorly and posteriorly from the cell body A fluid-filled excretory canal is surrounded by the cell cytoplasm The basal pole ofthe cell faces either the pseudocoel or hypodermis whereas the apical ... cell surrounds the upper two-thirds ofthe duct and a pore cell surrounds the lower third The excretory cell is a single-cell ‘epithelium’ that secretes solutes and water into the excretory canal...
... the process His modus operandi became very well known, and was widely adopted in the United States following the publication of his book Treatise on the Culture ofthe Apple and Pear and on the ... DNA ANDTHE GENETIC CODE How can something as small as the nucleus of a cell control the metabolic activity and properties of that cell, and ultimately the properties of a complex, multicellular ... barley (Hordeum vulgare), adapt their biosynthetic pathways by reducing the synthesis of glycine and serine, but increasing the synthesis of many other kinds of amino acid, including those with...
... the process His modus operandi became very well known, and was widely adopted in the United States following the publication of his book Treatise on the Culture ofthe Apple and Pear and on the ... DNA ANDTHE GENETIC CODE How can something as small as the nucleus of a cell control the metabolic activity and properties of that cell, and ultimately the properties of a complex, multicellular ... barley (Hordeum vulgare), adapt their biosynthetic pathways by reducing the synthesis of glycine and serine, but increasing the synthesis of many other kinds of amino acid, including those with...
... preparation ofthe manuscript JLC assisted in the design ofthe study and manuscript preparation HW conceived ofthe study, participated in its design and coordination, and drafted the manuscript ... genetic modification, but on ionic or other interactions between the peptides andthe vehicle Because ofthe potency of PTDtat in mediating cellular uptake of small and large molecules, in this study, ... membrane of many, if not all, mammalian cells [16-20] Among these peptides, the PTD ofthe Tat protein (PTDtat) of human immunodeficiency viruses types and (HIV-1 and HIV-2) has been one ofthe most...
... parameters, the SR model has n-1, andthe SRDT model has n-2 (a tree of n tips) In the LRT ofthe fit ofthe SR and SRDT models compared with the DR, if the SR model is rejected in favor ofthe DR ... enabling the analysis of clusters andofthe rate of viral evolution Furthermore, the maximum likelihood (ML) method enables an estimation ofthe evolutionary time scale [14] Using these methods, ... (LRT) ofthe fit ofthe models and timescale evolution ofthe HN coding region in HPIV1 by the ML method Based on the SRDT model [24,26], we constructed another phylogenetic tree consisting of dated...
... The serum samples from ofthe IgM negative cases were taken days after rash onset when the sensitivity of IgM detection is low Comparison ofthe N gene sequences ofthe Turkish viruses with the ... fact, the N gene sequences of 21 of these MV isolates were identical, though they came from different regions of Turkey Although the Turkish viruses were clearly in genotype D6, the sequences ofthe ... province and number of measles virus isolates obtained during 2000–2001 were more closely related to the sequences ofthe European, and Brazilian genotype D6 viruses than the sequences ofthe Turkish...
... analysis ofthe SRV-2 sequences revealed the presence of six separate clusters of sequences (Figure 1B) These clusters represent six molecular subtypes of SRV-2 The subtype SRV-2A cluster included the ... Multiple alignment ofthe complete env sequences of representative prototypes ofthe SRV-2 subtypes Multiple alignment ofthe complete env sequences of representative prototypes ofthe SRV-2 subtypes ... samples and participated in the design and coordination ofthe study C.C-T provided a large number of RF and non-RF tissue samples from his study collection TMR conceived ofthe study, and participated...
... preparation ofthe manuscript JLC assisted in the design ofthe study and manuscript preparation HW conceived ofthe study, participated in its design and coordination, and drafted the manuscript ... genetic modification, but on ionic or other interactions between the peptides andthe vehicle Because ofthe potency of PTDtat in mediating cellular uptake of small and large molecules, in this study, ... membrane of many, if not all, mammalian cells [16-20] Among these peptides, the PTD ofthe Tat protein (PTDtat) of human immunodeficiency viruses types and (HIV-1 and HIV-2) has been one ofthe most...
... between the Lake Baikal and Mongolia The biogeographic position of Buryatia is interesting because the taiga corridor zone south ofthe Lake Baikal has been important for the exchange of eastern and ... protein of PUUV, HOKV, and MUJV were ofthe same length (433 aa residues), a clear sign of their close genetic ties and shared evolution Furthermore, the N protein sequence of Muhorshibir767 strain ... in the screening of rodent samples, performed RT-PCR and sequencing, participated in the genetic analysis and contributed to writing ofthe manuscript JL, JN and BP participated in fieldwork and...
... performed the majority ofthe experiments and wrote the manuscript DF helped in the conception ofthe study, its design and coordination and helped to draft the manuscript MS participated in themolecular ... genome of L-Zagreb strain, in the first andthe second experiment respectively (Fig 1) The distribution ofthe heterogenic positions seem to be at random except for the region between approx 2000 and ... seem at random and not relevant for the virus, the in vivo impact of these minor variants should not be minimized Previous study [7] indicated the existence of multiple genetic markers and a need...
... in the COOH-terminus ofthe nucleoprotein gene were available and then sequenced All of 59 measles isolates in this study clustered within genotype H1 The results ofthe phylogenetic analysis of ... circulating in China in 2004 and to complement the database of genetic characteristics of China measles strains during the control phase ofthe disease Table 1: Number of wild-type measles viruses ... region ofthe nucleoprotein (N) gene, of 59 measles isolates in this study, together with the WHO reference strains were shown in Fig The clustering of measles viruses in China 2004 within the genotype...
... replication of these viral genomes is not known However, the frequency ofmutations (number ofmutations relative to the consensus, divided by the number of nucleotides sequenced) as well as the substitution ... Phenotypic effect ofmutationsThe IR-, AC1- and AC3-mutants, and one ofthe AV1mutants were tested For each mutant, virus accumulation and its effect on the total dry weight ofthe infected plants ... representation ofthe infectious construct p1.01TYLC and position ofmutations detected in the progeny Schematic Schematic representation ofthe infectious construct p1.01TYLC and position of mutations...