Genotype–phenotype correlations in laminopathies
... The LMNA gene is alternatively spliced to produce the type V intermediate filament proteins lamin A, C, C2 and del10. Together with B-type lamins, lamin A and C are the major components of the nuclear lamina (a fibrous proteinaceous meshwork underlying the nuclear envelope). The nuclear lamina funct ...
... The LMNA gene is alternatively spliced to produce the type V intermediate filament proteins lamin A, C, C2 and del10. Together with B-type lamins, lamin A and C are the major components of the nuclear lamina (a fibrous proteinaceous meshwork underlying the nuclear envelope). The nuclear lamina funct ...
LAPTh - CNRS
... • Existence of replication-coupled strand asymmetries in human genome • Replication origins correspond to large transitions of skew profiles • These transitions are conserved in mammalian genomes • Detection of more than one thousand putative origins active in germ-line cells ...
... • Existence of replication-coupled strand asymmetries in human genome • Replication origins correspond to large transitions of skew profiles • These transitions are conserved in mammalian genomes • Detection of more than one thousand putative origins active in germ-line cells ...
the loci of evolution: how predictable is genetic
... The coding region is the part of a gene that encodes the final gene product, either a protein or a mature RNA (Fig. 1). One can distinguish three main types of mutations: (1) coding changes, which alter the amino-acid sequence or the mature RNA nucleotide sequence; (2) cis-regulatory changes, which ...
... The coding region is the part of a gene that encodes the final gene product, either a protein or a mature RNA (Fig. 1). One can distinguish three main types of mutations: (1) coding changes, which alter the amino-acid sequence or the mature RNA nucleotide sequence; (2) cis-regulatory changes, which ...
Gene Section SRSF1 (serine/arginine rich splicing factor 1) -
... pathological conditions the expression levels are altered. ...
... pathological conditions the expression levels are altered. ...
The Co-Evolution of Genes and Culture Pedigrees
... lactose tolerant. They can also be referred to as being lactase persistent, meaning that lactase production persists beyond childhood. (People who no longer produce lactase as adults are called lactase nonpersistent.) Genetic studies suggest that lactose tolerance arose among human populations in th ...
... lactose tolerant. They can also be referred to as being lactase persistent, meaning that lactase production persists beyond childhood. (People who no longer produce lactase as adults are called lactase nonpersistent.) Genetic studies suggest that lactose tolerance arose among human populations in th ...
Differential Regulation of a-Lactalbumin and
... and lactation. Casein mRNA levels in the glands rose continuously, increasing 20-fold from Day 5 of pregnancy a-Lactalbuminand Casein mRNA in Pregnantand Lac to Day 15 of lactation (Chart 9A). The important of hormonal tating Glands.Total mRNAwasisolatedfrom rat mammary control of casein mRNA is sug ...
... and lactation. Casein mRNA levels in the glands rose continuously, increasing 20-fold from Day 5 of pregnancy a-Lactalbuminand Casein mRNA in Pregnantand Lac to Day 15 of lactation (Chart 9A). The important of hormonal tating Glands.Total mRNAwasisolatedfrom rat mammary control of casein mRNA is sug ...
Case Report Novel Sonic Hedgehog Mutation in a Couple
... mutation found in this case is at position 127 (TGG for TGA), which suggests that mutations in this adjacent residues are associated with an important phenotypic clinical variability. The etiology of the wide phenotypic spectrum is not yet understood, and it has been proposed that other genes or env ...
... mutation found in this case is at position 127 (TGG for TGA), which suggests that mutations in this adjacent residues are associated with an important phenotypic clinical variability. The etiology of the wide phenotypic spectrum is not yet understood, and it has been proposed that other genes or env ...
Genomic analysis of clinical samples with serologic ABO blood
... Various medical conditions associated with ABO discrepancies. Nineteen patients with nonhematologic malignancies (mainly adenocarcinomas of the colon, rectum, or uterus but also 3 cases with brain tumors) and gastrointestinal infections showed serologic results compatible with a form of polyagglutin ...
... Various medical conditions associated with ABO discrepancies. Nineteen patients with nonhematologic malignancies (mainly adenocarcinomas of the colon, rectum, or uterus but also 3 cases with brain tumors) and gastrointestinal infections showed serologic results compatible with a form of polyagglutin ...
Genetics: Mendelian Genetics Patterns of Inheritance
... P: Red x White (RR x R’R’) F1:Pink (RR’) F2: ¼ Red(RR), 2/4 Pink(RR’), ¼ White(R’R’) ...
... P: Red x White (RR x R’R’) F1:Pink (RR’) F2: ¼ Red(RR), 2/4 Pink(RR’), ¼ White(R’R’) ...
Genetics of Bacteriophage P22. II. Gene Order and Gene Function.
... been carried out on many combinations of mutants in these genes. The method is exactly the same as the standard cross (see below) except that an appropriate nonpermissive host is used. In cases involving ts mutants, the test is carried out at 40 °. In most cases a standard cross in a permissive host ...
... been carried out on many combinations of mutants in these genes. The method is exactly the same as the standard cross (see below) except that an appropriate nonpermissive host is used. In cases involving ts mutants, the test is carried out at 40 °. In most cases a standard cross in a permissive host ...
Identification of Genes Needed for Regeneration, Stem Cell
... phenotypes resulting from dsRNA treatment could reflect incomplete gene loss of function. The RNAi by feeding methodology used for our screen involves expressing dsRNA from a planarian gene in bacteria and suspending those bacteria with blended liver and agarose (Newmark et al., 2003). We optimized ...
... phenotypes resulting from dsRNA treatment could reflect incomplete gene loss of function. The RNAi by feeding methodology used for our screen involves expressing dsRNA from a planarian gene in bacteria and suspending those bacteria with blended liver and agarose (Newmark et al., 2003). We optimized ...
Enhancement of the Essential Amino Acid Composition of Food
... transaminases which transfer the alpha amino group of glutamate to the alpha-keto acid of an amino acid. In plants, groups of amino acids [8] exist that derive their carbon skeletons from glycerate-3-phosphate (ser, cys, gly), phosphoenol pyruvate (try, phe, tyr), pyruvate (leu, val, ala) in glycoly ...
... transaminases which transfer the alpha amino group of glutamate to the alpha-keto acid of an amino acid. In plants, groups of amino acids [8] exist that derive their carbon skeletons from glycerate-3-phosphate (ser, cys, gly), phosphoenol pyruvate (try, phe, tyr), pyruvate (leu, val, ala) in glycoly ...
Genomic Analysis of Hox Clusters in the Sea Lamprey
... clone, which had a unique restriction map. Nucleotide sequences are available in GenBank, accession numbers AF410908–AF410925. The deduced amino acid sequences are shown aligned to mouse and amphioxus sequences in Figure 2. To assign genes to Hox cognate groups, the complete homeodomain amino acid s ...
... clone, which had a unique restriction map. Nucleotide sequences are available in GenBank, accession numbers AF410908–AF410925. The deduced amino acid sequences are shown aligned to mouse and amphioxus sequences in Figure 2. To assign genes to Hox cognate groups, the complete homeodomain amino acid s ...
Tracing the origin of our species through palaeogenomics
... length. These sequences had then to be mapped to the phylogenetically closest genome available, in this case the one of present-day humans, since a de novo assemblage of an ancient genome based on these short molecules is not possible. The sequences may contain mistakes due to the damages that occur ...
... length. These sequences had then to be mapped to the phylogenetically closest genome available, in this case the one of present-day humans, since a de novo assemblage of an ancient genome based on these short molecules is not possible. The sequences may contain mistakes due to the damages that occur ...
Principles of Life - bli-research-synbio-2014-session-2
... Figure 9.18 Spontaneous and Induced Mutations (Part 1) ...
... Figure 9.18 Spontaneous and Induced Mutations (Part 1) ...
1030examII
... The phase of mitosis in which the centromeres split and sister chromatids are pulled to opposite poles of the cell is: A. B. C. D. E. ...
... The phase of mitosis in which the centromeres split and sister chromatids are pulled to opposite poles of the cell is: A. B. C. D. E. ...
Strategies for Improving Soluble Protein Production in E. coli
... Express toxic proteins by tightly controlling expression Expresso Rhamnose Cloning and Expression System Improve protein solubility, express toxic proteins Expresso SUMO Systems Expresso Solubility and Expression Screening System Express membrane proteins from T7 promoter OverExpress™ C41 (D ...
... Express toxic proteins by tightly controlling expression Expresso Rhamnose Cloning and Expression System Improve protein solubility, express toxic proteins Expresso SUMO Systems Expresso Solubility and Expression Screening System Express membrane proteins from T7 promoter OverExpress™ C41 (D ...
Leukaemia Section 11q23 rearrangements in leukaemia Atlas of Genetics and Cytogenetics
... - t(X;11)(q13;q23): rare; ANLL; the gene involved in Xq13 is AFX1, a transcription regulator. - t(1;11)(p32;q23): rare; ALL and ANLL; the gene involved in 1p32 is AF1P. - t(1;11)(q21;q23): rare; mostly M4 ANLL; the gene involved in 1q21 is AF1q. - t(2;11)(p21;q23): rare; ANLL and MDS; may be found a ...
... - t(X;11)(q13;q23): rare; ANLL; the gene involved in Xq13 is AFX1, a transcription regulator. - t(1;11)(p32;q23): rare; ALL and ANLL; the gene involved in 1p32 is AF1P. - t(1;11)(q21;q23): rare; mostly M4 ANLL; the gene involved in 1q21 is AF1q. - t(2;11)(p21;q23): rare; ANLL and MDS; may be found a ...
Elke Winterhager (Ed.) Gap Junctions in Development
... These are challenging times for scientists characterizing signaling pathways of their special interest, because the techniques employed to analyze molecular functions or interactions have developed rapidly in recent years. With regard to gap junctions, molecular cloning of the different connexin iso ...
... These are challenging times for scientists characterizing signaling pathways of their special interest, because the techniques employed to analyze molecular functions or interactions have developed rapidly in recent years. With regard to gap junctions, molecular cloning of the different connexin iso ...
Re-sequencing and genotyping the VRN-H, PPD-H, FR
... (Additional File 2) and found 37 genotypes with the dominant and 65 with the recessive allele (Additional File 1). While the dominant allele was conserved and had just one haplotype, six promoter haplotypes led to the recessive allele (Additional File 4). Eighty-one accessions, including one with wi ...
... (Additional File 2) and found 37 genotypes with the dominant and 65 with the recessive allele (Additional File 1). While the dominant allele was conserved and had just one haplotype, six promoter haplotypes led to the recessive allele (Additional File 4). Eighty-one accessions, including one with wi ...
Gene as the unit of genetic material - E
... of two copies of ribosomal DNA sequence mostly found as inverted repeats. The symbiotic origin of the chloroplast: Due to certain characteristics the chloroplast is comparable to a symbiotic organism living inside the plant cell. They divide, grow and differentiate. They contain circular DNA, ...
... of two copies of ribosomal DNA sequence mostly found as inverted repeats. The symbiotic origin of the chloroplast: Due to certain characteristics the chloroplast is comparable to a symbiotic organism living inside the plant cell. They divide, grow and differentiate. They contain circular DNA, ...
Surveying Saccharomyces Genomes to Identify Functional Elements
... sequences within proteins, but has been less useful for identifying functional sequence elements in nonprotein-coding DNA because the relatively rapid rate of change of nonprotein-coding sequences and the relative simplicity of non-coding regulatory sequence elements necessitates the comparison of s ...
... sequences within proteins, but has been less useful for identifying functional sequence elements in nonprotein-coding DNA because the relatively rapid rate of change of nonprotein-coding sequences and the relative simplicity of non-coding regulatory sequence elements necessitates the comparison of s ...
RNA-Seq
RNA-seq (RNA sequencing), also called whole transcriptome shotgun sequencing (WTSS), is a technology that uses the capabilities of next-generation sequencing to reveal a snapshot of RNA presence and quantity from a genome at a given moment in time.