CURRICULUM VITAE Name: Antonella Spinazzola Nationality
... The study showed that MNGIE results from a deficiency of thymidine phosphorylase, an enzyme that catalyzes the reversible breakdown of thymidine to thymine plus deoxyribose-1-phosphate. The report underlies the importance of understanding the nature and sources of mitochondrial DNA precursor pools s ...
... The study showed that MNGIE results from a deficiency of thymidine phosphorylase, an enzyme that catalyzes the reversible breakdown of thymidine to thymine plus deoxyribose-1-phosphate. The report underlies the importance of understanding the nature and sources of mitochondrial DNA precursor pools s ...
The DUET gene is necessary for chromosome
... propylene oxide and the samples infiltrated with Araldite resin followed by embedding and curing for 3 days at 60°C. 2 µm sections were cut using a Reichert Ultracut E microtome. Sections were stained with 1% Toluidine Blue in 1% borax for 2-5 minutes and mounted in the Araldite resin. Bright-field ...
... propylene oxide and the samples infiltrated with Araldite resin followed by embedding and curing for 3 days at 60°C. 2 µm sections were cut using a Reichert Ultracut E microtome. Sections were stained with 1% Toluidine Blue in 1% borax for 2-5 minutes and mounted in the Araldite resin. Bright-field ...
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC
... gene as well as 309 control individuals from the general population and the family members of patients with SMA were analyzed. By DHPLC analysis, we could detect the SMA-affected cases efficiently just by recognizing an SMN2-only peak. Furthermore, after specific primer amplification and adjustment ...
... gene as well as 309 control individuals from the general population and the family members of patients with SMA were analyzed. By DHPLC analysis, we could detect the SMA-affected cases efficiently just by recognizing an SMN2-only peak. Furthermore, after specific primer amplification and adjustment ...
understanding heredity
... Amission of facts and interpretations dear to him. But such restrictions make the essentials clear and convin~ing and make the facts easily accessible to the beginner, perrhitting him to see the great outlines of our science not blurred by unending details. The best success this little book could li ...
... Amission of facts and interpretations dear to him. But such restrictions make the essentials clear and convin~ing and make the facts easily accessible to the beginner, perrhitting him to see the great outlines of our science not blurred by unending details. The best success this little book could li ...
Mechanistic Comparison of High-Fidelity and Error
... free energy associated with each step. For deciphering kinetic mechanisms, pre-steady-state analyses are superior to steadystate analyses in that the former can provide rate information for the interconversion of reaction intermediates. Accordingly, when discussing kinetic mechanisms, this review wi ...
... free energy associated with each step. For deciphering kinetic mechanisms, pre-steady-state analyses are superior to steadystate analyses in that the former can provide rate information for the interconversion of reaction intermediates. Accordingly, when discussing kinetic mechanisms, this review wi ...
Molecular Genetics of Bipolar Disorder and Related Traits
... basic mechanisms of biological systems. In this thesis different applications of statistical methods have been used to explore the genetic component of bipolar disorder and related traits. Here, 41 families affected with bipolar disorder have been ascertained from the isolated population of Finland, ...
... basic mechanisms of biological systems. In this thesis different applications of statistical methods have been used to explore the genetic component of bipolar disorder and related traits. Here, 41 families affected with bipolar disorder have been ascertained from the isolated population of Finland, ...
1 - Krishikosh
... metaphase, anaphase and telophase. In prophase, the chromosomes become visible in the light microscope presumably due to coiling, shortening and thickening, and adding protein matrix to their mass as the process continues. By late prophase, the two identical or "sister" chromatids may be seen. The c ...
... metaphase, anaphase and telophase. In prophase, the chromosomes become visible in the light microscope presumably due to coiling, shortening and thickening, and adding protein matrix to their mass as the process continues. By late prophase, the two identical or "sister" chromatids may be seen. The c ...
The Rad50 Signature Motif: Essential to ATP Binding and
... Rad50 and the ABC transporter family include the Walker A and Walker B motifs, the Q loop, a histidine residue in the switch region, a D-loop, and a conserved LSGG sequence.22 – 24,10 This conserved sequence, LSGG, is the most specific and characteristic motif of this family and is thus known as the ...
... Rad50 and the ABC transporter family include the Walker A and Walker B motifs, the Q loop, a histidine residue in the switch region, a D-loop, and a conserved LSGG sequence.22 – 24,10 This conserved sequence, LSGG, is the most specific and characteristic motif of this family and is thus known as the ...
Systematic Studies on the Family Cucurbitaceae
... golden leaf color (go), along with several genes coding for specific proteins. In addition, watermelon breeders have selected for many different characteristics, such as flesh color, rind pattern, plant architecture, and leaf shape, for which the inheritance is unknown so far. Efforts are under way ...
... golden leaf color (go), along with several genes coding for specific proteins. In addition, watermelon breeders have selected for many different characteristics, such as flesh color, rind pattern, plant architecture, and leaf shape, for which the inheritance is unknown so far. Efforts are under way ...
Clinical Features, and Nucleotide Changes in Three Families with
... involvement would be that gene dosage or expression might differ between the right side and the left side. A heterozygous 15-nucleotide deletion in the gene, 1124del15, was found in the daughter with congenital superior oblique muscle palsy in Family No. 2. This deletion was not found in the mother ...
... involvement would be that gene dosage or expression might differ between the right side and the left side. A heterozygous 15-nucleotide deletion in the gene, 1124del15, was found in the daughter with congenital superior oblique muscle palsy in Family No. 2. This deletion was not found in the mother ...
Genetic Basis for Osmosensitivity and Genetic Instability of the Wine
... ALD4, and ALD6 are induced in response to sugar-induced osmotic stress (Erasmus et al. 2003). The current literature, therefore, is confusing and even contradictory as to which ALD genes are responsible for acetic acid formation. Depending on wine style, acetic acid levels >0.7 g/L detract from wine ...
... ALD4, and ALD6 are induced in response to sugar-induced osmotic stress (Erasmus et al. 2003). The current literature, therefore, is confusing and even contradictory as to which ALD genes are responsible for acetic acid formation. Depending on wine style, acetic acid levels >0.7 g/L detract from wine ...
Primer on Molecular Biology
... a membrane bound nucleus DNA is divided between two or more chromosomes ...
... a membrane bound nucleus DNA is divided between two or more chromosomes ...
Genetic divergence and the genetic architecture of complex traits in
... C57BL/6J (B6) inbred strain with the corresponding chromosome from the A/J strain [11]. Additional mammalian CSS panels have subsequently been made for mice [12] and rats [13]. Although their genetic constitution is highly unusual, CSSs have many unique attributes for gene discovery, functional stud ...
... C57BL/6J (B6) inbred strain with the corresponding chromosome from the A/J strain [11]. Additional mammalian CSS panels have subsequently been made for mice [12] and rats [13]. Although their genetic constitution is highly unusual, CSSs have many unique attributes for gene discovery, functional stud ...
DIFFERENTIAL GENE RESPONSE TO MUTAGENS IN
... within a gene locus. The mutational sites within the locus affected by proflavin were different from those affected by 5bromouracil and the induced mutations did not occur at the sites which most frequently mutated spontaneously. While the evidence for differential mutability in microorganisms is ov ...
... within a gene locus. The mutational sites within the locus affected by proflavin were different from those affected by 5bromouracil and the induced mutations did not occur at the sites which most frequently mutated spontaneously. While the evidence for differential mutability in microorganisms is ov ...
illustra bacteria genomicPrep Mini Spin Kit
... consistent, reproducible yields of gDNA. In comparative tests with QIAamp DNA Mini Kit, the yield from genomicPrep was 20% more than that from QIAamp (Table 2). Additionally, the coefficient of variation for genomicPrep yields was about half of that for QIAamp (25.5% vs 50%, respectively), which dem ...
... consistent, reproducible yields of gDNA. In comparative tests with QIAamp DNA Mini Kit, the yield from genomicPrep was 20% more than that from QIAamp (Table 2). Additionally, the coefficient of variation for genomicPrep yields was about half of that for QIAamp (25.5% vs 50%, respectively), which dem ...
Bridging the transgenerational gap with epigenetic memory
... It is textbook knowledge that inheritance of traits is governed by genetics, and that the epigenetic modifications an organism acquires are largely reset between generations. Recently, however, transgenerational epigenetic inheritance has emerged as a rapidly growing field, providing evidence sugges ...
... It is textbook knowledge that inheritance of traits is governed by genetics, and that the epigenetic modifications an organism acquires are largely reset between generations. Recently, however, transgenerational epigenetic inheritance has emerged as a rapidly growing field, providing evidence sugges ...
Got Lactase? The Co-evolution of Genes and Culture
... You may want to discuss this information with your students. Why did the researchers from the University of Manchester conclude that there was something wrong with the lactase enzyme based on their observations with the two siblings? At first researchers thought lactose intolerance was an “abnormal” ...
... You may want to discuss this information with your students. Why did the researchers from the University of Manchester conclude that there was something wrong with the lactase enzyme based on their observations with the two siblings? At first researchers thought lactose intolerance was an “abnormal” ...
Cytogenetics
... Results from errors in division during meiosis, where a daughter cell receives both pairs of a particular chromosome (nondisjunction errors). Addition of an extra chromosome, trisomy, has been described for all the chromosomes but only three autosomal trisomies survive to birth. Those are trisomies ...
... Results from errors in division during meiosis, where a daughter cell receives both pairs of a particular chromosome (nondisjunction errors). Addition of an extra chromosome, trisomy, has been described for all the chromosomes but only three autosomal trisomies survive to birth. Those are trisomies ...
A component of calcium-activated potassium channels encoded by
... restriction fiagrnent within this cosmid. In slo4, the 3-kb Eco RI genomic fragment at 96F5-8 is broken into two parts, each juxtaposed to DNA sequences from the slo locus at 96A17. A phage containing one of these junction fiagments was isolated by probing a slo4 genomic library with the 3-kb wild-t ...
... restriction fiagrnent within this cosmid. In slo4, the 3-kb Eco RI genomic fragment at 96F5-8 is broken into two parts, each juxtaposed to DNA sequences from the slo locus at 96A17. A phage containing one of these junction fiagments was isolated by probing a slo4 genomic library with the 3-kb wild-t ...
Site-specific recombinase technology
Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse