Sequence requirements for function of the
... gene loci (Asano and Wharton, 1999; Calvi et al., 1998; Royzman et al., 1999). The data demonstrate that Drosophila chorion gene amplification uses evolutionarily conserved machinery for initiation; however, some mechanism must exist to uniquely mark the chorion gene loci origins for activation duri ...
... gene loci (Asano and Wharton, 1999; Calvi et al., 1998; Royzman et al., 1999). The data demonstrate that Drosophila chorion gene amplification uses evolutionarily conserved machinery for initiation; however, some mechanism must exist to uniquely mark the chorion gene loci origins for activation duri ...
Genomic rearrangements account for more than one
... was co-amplified together with the wild-type transcript (Fig. 3A); sequence analysis of the gel purified bands revealed transcripts missing those exons that showed hemizygosity in the MLPA analysis as well as transcripts that lacked exons otherwise present in the genomic DNA (Table 1). These unexpec ...
... was co-amplified together with the wild-type transcript (Fig. 3A); sequence analysis of the gel purified bands revealed transcripts missing those exons that showed hemizygosity in the MLPA analysis as well as transcripts that lacked exons otherwise present in the genomic DNA (Table 1). These unexpec ...
The molecular genetics of von Willebrand disease
... recent evidence that some type 1 cases have subtle losses of the highest molecular weight VWF multimers, likely as a result, at least in part, of increased ADAMTS13mediated proteolysis. However, these abnormalities are unlikely to be appreciated in most diagnostic laboratories using their routine mu ...
... recent evidence that some type 1 cases have subtle losses of the highest molecular weight VWF multimers, likely as a result, at least in part, of increased ADAMTS13mediated proteolysis. However, these abnormalities are unlikely to be appreciated in most diagnostic laboratories using their routine mu ...
Variable Expression of the Mutation in Familial Defective
... would not explain the normal plasma LDL level in III 1, who inherited from his mother a non-FDB allele (with haplotype a) that was different from the non-FDB allele in his heterozygous uncle (II 3). Moreover, the ICJOS of LDL from II 1 and II 3 were increased to the same extent. This is not compatib ...
... would not explain the normal plasma LDL level in III 1, who inherited from his mother a non-FDB allele (with haplotype a) that was different from the non-FDB allele in his heterozygous uncle (II 3). Moreover, the ICJOS of LDL from II 1 and II 3 were increased to the same extent. This is not compatib ...
PDF
... into the correct chromosomal var upstream region. This design enables rapid positive selection for integration into the desired locus as described by Wang et al. [18]. The constructs, cloning strategy, and expression patterns are shown in Figures 1–5. var loci are found in both subtelomeric and inte ...
... into the correct chromosomal var upstream region. This design enables rapid positive selection for integration into the desired locus as described by Wang et al. [18]. The constructs, cloning strategy, and expression patterns are shown in Figures 1–5. var loci are found in both subtelomeric and inte ...
User`s Manual - Mendel`s Accountant
... The actual design and code features of MENDEL are described in detail elsewhere [Sanford et al., 2007. SCPE 8(2): 147-165 - also available on this web site]. Following is a simple outline of how the program operates. 1. Based on user input, Mendel creates a virtual population with the specified numb ...
... The actual design and code features of MENDEL are described in detail elsewhere [Sanford et al., 2007. SCPE 8(2): 147-165 - also available on this web site]. Following is a simple outline of how the program operates. 1. Based on user input, Mendel creates a virtual population with the specified numb ...
Frequent, independent transfers of a catabolic gene from bacteria to
... Indeed, gene duplications (followed by evolution of new functions) and other genomic rearrangements have shaped eukaryotic genomes [1]. However, genetic innovation can also result from the acquisition of exogenous genes by horizontal gene transfer (HGT). Prokaryotes adapt largely by HGT, and strains ...
... Indeed, gene duplications (followed by evolution of new functions) and other genomic rearrangements have shaped eukaryotic genomes [1]. However, genetic innovation can also result from the acquisition of exogenous genes by horizontal gene transfer (HGT). Prokaryotes adapt largely by HGT, and strains ...
Haploidy, Diploidy and Evolution of Antifungal Drug Resistance Saccharomyces cerevisiae
... adaptive advantage in a given environment (Wahl and Krakauer 2000). Cultures were then batch transferred at a dilution rate of 1:100 for the next 50 generations. For the first few transfers after their establishment, the maximum density of the batch cultures with FLC was reduced 30–50%, relative to ...
... adaptive advantage in a given environment (Wahl and Krakauer 2000). Cultures were then batch transferred at a dilution rate of 1:100 for the next 50 generations. For the first few transfers after their establishment, the maximum density of the batch cultures with FLC was reduced 30–50%, relative to ...
alpha-amylase from bacillus licheniformis
... these products, Novozymes A/S, submitted a dossier to JECFA containing detailed information about the α-amylase and α-amylase preparation (Novozymes A/S, 2002). This Chemical and Technical Assessment is based on Novozyme’s dossier. The α-amylase was developed from another thermo-stable α-amylase (Te ...
... these products, Novozymes A/S, submitted a dossier to JECFA containing detailed information about the α-amylase and α-amylase preparation (Novozymes A/S, 2002). This Chemical and Technical Assessment is based on Novozyme’s dossier. The α-amylase was developed from another thermo-stable α-amylase (Te ...
International Journal of Antimicrobial Agents ksgA mutations confer
... Bell Flower Clinic Bell Flower Clinic Bell Flower Clinic Bell Flower Clinic ...
... Bell Flower Clinic Bell Flower Clinic Bell Flower Clinic Bell Flower Clinic ...
Prenatal Diagnosis of Rare Familial Unbalanced Translocation of
... a parent with a balanced translocation. Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes. It was shown that the deletion of 7q24 and 7q36 was assoc ...
... a parent with a balanced translocation. Understanding the individuals’ phenotype in association with the gain and loss of copy number is important and can further provide us with information on that particular region of the named chromosomes. It was shown that the deletion of 7q24 and 7q36 was assoc ...
PHA (Pulmonary Hypoplasia with Anasarca)
... recently been confirmed by DNA testing in several breeds of cattle, including Dexters. The questions and answers presented herein are based on the conclusion that Pulmonary Hypoplasia with Anasarca (PHA) is the result of a mutation in a specific gene on cattle chromosome 6. Dr. Jon Beever, of AgriGe ...
... recently been confirmed by DNA testing in several breeds of cattle, including Dexters. The questions and answers presented herein are based on the conclusion that Pulmonary Hypoplasia with Anasarca (PHA) is the result of a mutation in a specific gene on cattle chromosome 6. Dr. Jon Beever, of AgriGe ...
"Tooth Agenesis". - Thimios Mitsiadis
... sequences found in humans with tooth agenesis, it can be predicted that the consequences of the genetic defects are either severely truncated proteins or proteins with a deficient capacity to bind to DNA. Thus, in a heterozygous condition where one allele is mutated whereas the other allele is normal ...
... sequences found in humans with tooth agenesis, it can be predicted that the consequences of the genetic defects are either severely truncated proteins or proteins with a deficient capacity to bind to DNA. Thus, in a heterozygous condition where one allele is mutated whereas the other allele is normal ...
Novel familial cases of ICCA (infantile convulsions with paroxysmal
... Paroxysmal dyskinesia (PD) is a rare disorder characterized by the episodic occurrence of involuntary abnormal movements which manifest as attacks of choreoathetosis or dystonia. They are clinically and genetically heterogeneous and various classifications have been proposed (Bruno et al., 2004). Pa ...
... Paroxysmal dyskinesia (PD) is a rare disorder characterized by the episodic occurrence of involuntary abnormal movements which manifest as attacks of choreoathetosis or dystonia. They are clinically and genetically heterogeneous and various classifications have been proposed (Bruno et al., 2004). Pa ...
Leukaemia Section T-lineage acute lymphoblastic leukemia (T-ALL) Atlas of Genetics and Cytogenetics
... TRG@ (7p14) The TRG@(TCRG) locus (7p14) may be restricted to T-cell tumors in patients with ataxia telangiectasia. The TRG@ locus is not involved in translocations in TALL. Historically, it was thought that the inv(7)(p15;q34) or t(7;7)(p15;q34) juxtaposed TRB@ to TRG@, but recently it was shown tha ...
... TRG@ (7p14) The TRG@(TCRG) locus (7p14) may be restricted to T-cell tumors in patients with ataxia telangiectasia. The TRG@ locus is not involved in translocations in TALL. Historically, it was thought that the inv(7)(p15;q34) or t(7;7)(p15;q34) juxtaposed TRB@ to TRG@, but recently it was shown tha ...
Spontaneous Mutations in the CsrRS Two
... pyrogenic exotoxin B (SpeB), and streptokinase [14, 15]. Because CsrR is a transcriptional repressor, mutants that affect the expression or integrity of this protein result in enhanced expression of the regulated genes. Thus, csrR mutants are highly mucoid and produce increased SLS activity and SpeB ...
... pyrogenic exotoxin B (SpeB), and streptokinase [14, 15]. Because CsrR is a transcriptional repressor, mutants that affect the expression or integrity of this protein result in enhanced expression of the regulated genes. Thus, csrR mutants are highly mucoid and produce increased SLS activity and SpeB ...
Chromosomes in Saccharomyces cerevisiae
... telomeres, or the presence on natural chromosomes of previously unidentified specialized sequences that are required for accurate chromosome segregation. We examined the role of telomere-centromere separation by analyzing the behavior of telocentric derivatives of chromosome III. We made a full-leng ...
... telomeres, or the presence on natural chromosomes of previously unidentified specialized sequences that are required for accurate chromosome segregation. We examined the role of telomere-centromere separation by analyzing the behavior of telocentric derivatives of chromosome III. We made a full-leng ...
The Effects of Zygotic Lethal Mutations on Female Germ
... Three categories of effects were found. In the first group (13 out of 48), no maternal effect was detected. The second set (20 out of 48) exhibited maternal effects on oogenesis, embryogenesis, or both. In 13 of this last group, only a few eggs were produced before a progressive deterioration of dev ...
... Three categories of effects were found. In the first group (13 out of 48), no maternal effect was detected. The second set (20 out of 48) exhibited maternal effects on oogenesis, embryogenesis, or both. In 13 of this last group, only a few eggs were produced before a progressive deterioration of dev ...
Keratins and skin disorders
... causatively with human pathology (more than 400 keratin mutations are now logged on an internet database, www.interfil.org) has begun to draw attention to a number of facts about keratins and keratin disorders which were less well recognized previously. Firstly, keratin-associated disorders are not ...
... causatively with human pathology (more than 400 keratin mutations are now logged on an internet database, www.interfil.org) has begun to draw attention to a number of facts about keratins and keratin disorders which were less well recognized previously. Firstly, keratin-associated disorders are not ...
CFTR mutation classifications toward genotype
... characteristics. It is often difficult to assess the association between CFTR mutations and clinical entities that, in some cases, may have other non-CFTR related aetiologies. Other factors, such as the environment, modifier genes and the progression of the disease with age, can also affect the clin ...
... characteristics. It is often difficult to assess the association between CFTR mutations and clinical entities that, in some cases, may have other non-CFTR related aetiologies. Other factors, such as the environment, modifier genes and the progression of the disease with age, can also affect the clin ...
FRIZZY PANICLE Drives Supernumerary
... feature of MRS lines is that they have a large number of spikelets emerging from each rachis node, in most cases in the lower third of the spike (Fig. 1, B and C). The central and upper thirds of the spike generally have only three spikelets per node, similar to the spike architecture of six-rowed b ...
... feature of MRS lines is that they have a large number of spikelets emerging from each rachis node, in most cases in the lower third of the spike (Fig. 1, B and C). The central and upper thirds of the spike generally have only three spikelets per node, similar to the spike architecture of six-rowed b ...
Journal of Bacteriology
... phase II colonies, thereby regulating the production of secondary metabolites and exoenzymes. Complementation and sequence analysis of 26 phase II mutants and of 13 wild-type phase II sectors growing out of phase I colonies showed that in all these cases the phase II phenotype is caused by spontaneo ...
... phase II colonies, thereby regulating the production of secondary metabolites and exoenzymes. Complementation and sequence analysis of 26 phase II mutants and of 13 wild-type phase II sectors growing out of phase I colonies showed that in all these cases the phase II phenotype is caused by spontaneo ...
PERSPECTIVES IN HUMAN GENETICS Mendelian Inheritance in
... each AV consists of the title of the trait (phenotype) determined by the mutation, the gene symbol and the shorthand description of the mutation,10–12 text providing a varying amount of information on the family(ies) or population(s) studied, the details of the specific DNA change, and peculiarities ...
... each AV consists of the title of the trait (phenotype) determined by the mutation, the gene symbol and the shorthand description of the mutation,10–12 text providing a varying amount of information on the family(ies) or population(s) studied, the details of the specific DNA change, and peculiarities ...
Gene Section ALDOB (aldolase B, fructose-bisphosphate) Atlas of Genetics and Cytogenetics
... Tolan DR. Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose1,6-bisphosphate aldolase. J Biol Chem. 2003 May ...
... Tolan DR. Spatial clustering of isozyme-specific residues reveals unlikely determinants of isozyme specificity in fructose1,6-bisphosphate aldolase. J Biol Chem. 2003 May ...
Saethre–Chotzen syndrome
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.