The molecular basis of phenylketonuria in Koreans
... In the BH4-non-responsive patients, the phenylalanine level remained at the same level as the starting point (Fig. 1). Some moderate PKU patients (patient 49 and 72) did not respond to the BH4. This result suggests that BH4 responsiveness requires some residual enzyme activity, but all the cases wit ...
... In the BH4-non-responsive patients, the phenylalanine level remained at the same level as the starting point (Fig. 1). Some moderate PKU patients (patient 49 and 72) did not respond to the BH4. This result suggests that BH4 responsiveness requires some residual enzyme activity, but all the cases wit ...
Toxicity Mechanisms Identification via Gene Set
... molecular toxicity response is also dose-dependent.18 Transition of dominant function or pathway at different dose concentrations has been observed in previous studies, which provided extra mechanistic information beyond the traditional phenotypic dose-response curves.19−22 The ability to reveal if a ...
... molecular toxicity response is also dose-dependent.18 Transition of dominant function or pathway at different dose concentrations has been observed in previous studies, which provided extra mechanistic information beyond the traditional phenotypic dose-response curves.19−22 The ability to reveal if a ...
paper
... Figure 2 | Cell divisions during oogenesis and spermatogenesis. S, stem cells; G, gonial cells; M, meiotic cells. The total number of cell divisions in the life history of an egg is 24. In males this depends on the number of stem-cell divisions, which is greater in older males. (Figure adapted from ...
... Figure 2 | Cell divisions during oogenesis and spermatogenesis. S, stem cells; G, gonial cells; M, meiotic cells. The total number of cell divisions in the life history of an egg is 24. In males this depends on the number of stem-cell divisions, which is greater in older males. (Figure adapted from ...
Albinism - andoverhighanatomy
... x chromosome. Occurs in males. Men with this albinism have developmental and functional vision problems while the skin, hair, and eye color are all normal. ...
... x chromosome. Occurs in males. Men with this albinism have developmental and functional vision problems while the skin, hair, and eye color are all normal. ...
Localized Aggressive Periodontitis in a Six-year-old
... denticola, and high levels of A actinomycetemcomitans. P intermedia, E corrodens, B forsythus, and F nucleatum were at negative levels. Test results of the distofacial of tooth no. 24 reported that P intermedia and T denticola levels were low and E corrodens, B forsythus, and F nucleatum were modera ...
... denticola, and high levels of A actinomycetemcomitans. P intermedia, E corrodens, B forsythus, and F nucleatum were at negative levels. Test results of the distofacial of tooth no. 24 reported that P intermedia and T denticola levels were low and E corrodens, B forsythus, and F nucleatum were modera ...
Solid Tumour Section Nervous system: Astrocytic tumors Atlas of Genetics and Cytogenetics
... whether the neoplasm undergoes progression to a more malignant phenotype; in pilocytic astrocytomas, total cure is possible after total resection; in fibrillary astrocytomas reccurrence is frequent. In anaplastic astrocytomas and in glioblastomas, evaluation of the extent of resection can be a progn ...
... whether the neoplasm undergoes progression to a more malignant phenotype; in pilocytic astrocytomas, total cure is possible after total resection; in fibrillary astrocytomas reccurrence is frequent. In anaplastic astrocytomas and in glioblastomas, evaluation of the extent of resection can be a progn ...
Kinds and Rates of Human Heritable Mutations
... phenotypes that occur in the population most often are the ones most likely to be recorded. Phenotypes that are so severe as to cause prenatal death, or so mild as to be indistinguishable from the normal variety of phenotypic traits, are difficult or impossible to include in these population surveys ...
... phenotypes that occur in the population most often are the ones most likely to be recorded. Phenotypes that are so severe as to cause prenatal death, or so mild as to be indistinguishable from the normal variety of phenotypic traits, are difficult or impossible to include in these population surveys ...
Prions: an evolutionary perspective
... of these helixes and their conversion into β strands. However, PrPSC preserves a large part of α helix (30% versus 43% β strand) [9, 31]. These results suggest that at least a large part of the β pleated sheet domains are originated from the amino-terminal region of PrPC, which is less structured [4 ...
... of these helixes and their conversion into β strands. However, PrPSC preserves a large part of α helix (30% versus 43% β strand) [9, 31]. These results suggest that at least a large part of the β pleated sheet domains are originated from the amino-terminal region of PrPC, which is less structured [4 ...
Ehlers-Danlos syndrome type VIIA and VIIB result from splice
... treated with braces until the age of 3 years, when bilateral surgical repair of both hips was performed successfully. At the age of 4 years, she had hypermobility of all large and small joints, soft skin without marked scarring, and had had no fractures. Family F. The sixth index case was a 25-year- ...
... treated with braces until the age of 3 years, when bilateral surgical repair of both hips was performed successfully. At the age of 4 years, she had hypermobility of all large and small joints, soft skin without marked scarring, and had had no fractures. Family F. The sixth index case was a 25-year- ...
Cost-Sharing for Emergency Animal disease Responses
... examined and accepted in principle. Several outstanding concerns remained in relation to disease categorisation, management of multi-species disease, the start and end dates for outbreaks and the costs to be covered by the Agreement. Animal Health Australia subsequently appointed an Expert Group und ...
... examined and accepted in principle. Several outstanding concerns remained in relation to disease categorisation, management of multi-species disease, the start and end dates for outbreaks and the costs to be covered by the Agreement. Animal Health Australia subsequently appointed an Expert Group und ...
CH # 13-3
... Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought of as negative because they disrupt the normal function of genes. However, without mutations, organisms cannot evolve, because mutations are the source of gen ...
... Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought of as negative because they disrupt the normal function of genes. However, without mutations, organisms cannot evolve, because mutations are the source of gen ...
Mutations
... Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought of as negative because they disrupt the normal function of genes. However, without mutations, organisms cannot evolve, because mutations are the source of gen ...
... Whether a mutation is negative or beneficial depends on how its DNA changes relative to the organism’s situation. Mutations are often thought of as negative because they disrupt the normal function of genes. However, without mutations, organisms cannot evolve, because mutations are the source of gen ...
Chapter 12. Population Genetics
... No new mutations -or mutational equilibrium, even new mutations have little effect on allele frequencies from one generation to the next Random mating -no assortive mating or mating by genotype No natural selection -all genotypes reproduce with equal success ...
... No new mutations -or mutational equilibrium, even new mutations have little effect on allele frequencies from one generation to the next Random mating -no assortive mating or mating by genotype No natural selection -all genotypes reproduce with equal success ...
Molecular and Functional Characterization of Novel Glycerol
... cardiac channelopathies such as Brugada syndrome (BrS). Type 1 BrS, caused by mutations in the SCN5A-encoded sodium channel, accounts for ⬇20% of BrS. Recently, a novel mutation in the glycerol-3-phosphate dehydrogenase 1–like gene (GPD1-L) disrupted trafficking of SCN5A in a multigenerational famil ...
... cardiac channelopathies such as Brugada syndrome (BrS). Type 1 BrS, caused by mutations in the SCN5A-encoded sodium channel, accounts for ⬇20% of BrS. Recently, a novel mutation in the glycerol-3-phosphate dehydrogenase 1–like gene (GPD1-L) disrupted trafficking of SCN5A in a multigenerational famil ...
Obtaining genetic testing in pediatric epilepsy
... a hydrophobic amino acid in a transmembrane domain of a protein for a hydrophilic amino acid). Prediction modeling also considers conservation of specific amino acid sequences across species. A highly conserved residue (i.e., the same in multiple levels of organisms) is presumed to be important for ...
... a hydrophobic amino acid in a transmembrane domain of a protein for a hydrophilic amino acid). Prediction modeling also considers conservation of specific amino acid sequences across species. A highly conserved residue (i.e., the same in multiple levels of organisms) is presumed to be important for ...
Acidaminococcus intestini sp. nov., isolated from human clinical
... The 16S rRNA gene sequences (1365 nt) were aligned against sequences of representative strains and clones retrieved in the GenBank database using the DIALIGN program (Morgenstern, 2002). An evolutionary tree based on the 16S rRNA sequences was inferred using the maximumlikelihood (ML) (Olsen et al., ...
... The 16S rRNA gene sequences (1365 nt) were aligned against sequences of representative strains and clones retrieved in the GenBank database using the DIALIGN program (Morgenstern, 2002). An evolutionary tree based on the 16S rRNA sequences was inferred using the maximumlikelihood (ML) (Olsen et al., ...
Genetic evaluation with major genes and polygenic inheritance
... between genotype at the major gene and the phenotype can be estimated using standard EM-REML or Gibbs sampling. Prediction of breeding values with genotypes at the major gene can use multiple-trait BLUP software. Major genes with more than two alleles can be considered by including negative covarian ...
... between genotype at the major gene and the phenotype can be estimated using standard EM-REML or Gibbs sampling. Prediction of breeding values with genotypes at the major gene can use multiple-trait BLUP software. Major genes with more than two alleles can be considered by including negative covarian ...
Physiological and phylogenetic analysis of rhizobia isolated from
... The fixation of N2 by legumes plays a key role in agricultural sustainability. Moreover, the further assessment of rhizobial genetic diversity is contributing both to the worldwide knowledge of biodiversity of soil microorganisms and to the usefulness of rhizobial collections, and it is developing l ...
... The fixation of N2 by legumes plays a key role in agricultural sustainability. Moreover, the further assessment of rhizobial genetic diversity is contributing both to the worldwide knowledge of biodiversity of soil microorganisms and to the usefulness of rhizobial collections, and it is developing l ...
Introduction - HobbsAPBiology
... from the F2 generation of a dihybrid cross, we can predict the probabilities that it will fit a specific genotype of phenotype. 2. Mendel’s experiments succeeded because he counted so many offspring and was able to discern this statistical feature of inheritance and had a keen sense of the rules of ...
... from the F2 generation of a dihybrid cross, we can predict the probabilities that it will fit a specific genotype of phenotype. 2. Mendel’s experiments succeeded because he counted so many offspring and was able to discern this statistical feature of inheritance and had a keen sense of the rules of ...
2015_06_CV Roger Colobran
... 14th Annual Meeting of the Federation of Clinical Immunology Societies (FOCIS 2013). Chicago 2014 POSTER: Identification and molecular characterization of two new mutations causing C5 deficiency in two non-related north-african families. Roger Colobran, Clara Franco-Jarava, Andrea Martín-Nalda, Laur ...
... 14th Annual Meeting of the Federation of Clinical Immunology Societies (FOCIS 2013). Chicago 2014 POSTER: Identification and molecular characterization of two new mutations causing C5 deficiency in two non-related north-african families. Roger Colobran, Clara Franco-Jarava, Andrea Martín-Nalda, Laur ...
![2610//16 1 Allele-specific expression, ASE [1] Defini8on of allele](http://s1.studyres.com/store/data/006248723_1-82195dc62ecf1cc4d0499f4ecaf3249f-300x300.png)
2610//16 1 Allele-specific expression, ASE [1] Defini8on of allele
... A list of tools that can detect ASE, given specified input data: • cisASE – paired genomic+transcriptomic data, Liu et al., 2016 • MutRSeq – nonsynonomous SNVs from RNA-seq data, Fu et al., 2016 • GeneiASE – unphased RNA-seq data, Edsgärd et al., 2016 • ASE-TIGAR – parental data required, bay ...
... A list of tools that can detect ASE, given specified input data: • cisASE – paired genomic+transcriptomic data, Liu et al., 2016 • MutRSeq – nonsynonomous SNVs from RNA-seq data, Fu et al., 2016 • GeneiASE – unphased RNA-seq data, Edsgärd et al., 2016 • ASE-TIGAR – parental data required, bay ...
Agammaglobulinemia- X-Linked and Autosomal Recessive
... beginning with stem cells located in the bone marrow. The stem cells give rise to immature lymphocytes, called pro-B-lymphocytes. Pro-B-lymphocytes next develop into pre-B-cells, which then give rise to B-lymphocytes. Each B-lymphocyte bears on its cell surface a small amount of the immunoglobulin t ...
... beginning with stem cells located in the bone marrow. The stem cells give rise to immature lymphocytes, called pro-B-lymphocytes. Pro-B-lymphocytes next develop into pre-B-cells, which then give rise to B-lymphocytes. Each B-lymphocyte bears on its cell surface a small amount of the immunoglobulin t ...
Gene Section CASP8 (Caspase 8, Apoptosis-Related Cysteine Peptidase) Atlas of Genetics and Cytogenetics
... Therefore, it is suggested that caspase-8L is recruited into the DISC but remains proteolytically inert, interfering with the transduction of the signal from the DISC (Himeji et al., 2002). An isoform that is detected in bone marrow mononuclear cells is named caspase-8 short. Although it only contai ...
... Therefore, it is suggested that caspase-8L is recruited into the DISC but remains proteolytically inert, interfering with the transduction of the signal from the DISC (Himeji et al., 2002). An isoform that is detected in bone marrow mononuclear cells is named caspase-8 short. Although it only contai ...
Cancer Prone Disease Section Alport syndrome and diffuse leiomyomatosis
... AS is a rare hereditary glomerular nephropathy, its incidence is estimated at 1 in 5000 individuals. It was first described by Alport in 1927. AS is a progressive hematuric nephropathy with progression to renal failure, due to changes in the collagen IV of the glomerular basement membrane. The hemat ...
... AS is a rare hereditary glomerular nephropathy, its incidence is estimated at 1 in 5000 individuals. It was first described by Alport in 1927. AS is a progressive hematuric nephropathy with progression to renal failure, due to changes in the collagen IV of the glomerular basement membrane. The hemat ...
Cloning and characterisation of a cysteine proteinase gene
... containing the hydrophobic amino acids characteristic of the signal sequence (Fig. 2) identified by the SignaIP Server (http://www.cbs.dtu.dk/services/SignaIP). The pro-region is cleaved between amino acid residues 128 and 129 generating a glycine. The putative motifs of MHC I and MHC II were also i ...
... containing the hydrophobic amino acids characteristic of the signal sequence (Fig. 2) identified by the SignaIP Server (http://www.cbs.dtu.dk/services/SignaIP). The pro-region is cleaved between amino acid residues 128 and 129 generating a glycine. The putative motifs of MHC I and MHC II were also i ...