![Caspary T, Anderson KV. Dev Dyn. 2006 Sep;235(9):2412-23. Uncovering the uncharacterized and unexpected: unbiased phenotype-driven screens in the mouse. (Review)](http://s1.studyres.com/store/data/008788886_1-d294275857f401dded1c6113dd4792a3-300x300.png)
Caspary T, Anderson KV. Dev Dyn. 2006 Sep;235(9):2412-23. Uncovering the uncharacterized and unexpected: unbiased phenotype-driven screens in the mouse. (Review)
... 98.7% of the genome, such as the identification of regulatory sequences and other elements of the genome. As a bonus, the sequence of the non-coding portions of the genome has greatly aided in positional cloning efforts because that sequence increases the number of DNA polymorphisms available that c ...
... 98.7% of the genome, such as the identification of regulatory sequences and other elements of the genome. As a bonus, the sequence of the non-coding portions of the genome has greatly aided in positional cloning efforts because that sequence increases the number of DNA polymorphisms available that c ...
PubMed Advanced: Linking PubMed to NCBI Genetics Databases
... Use Limits to narrow to human/animal only ...
... Use Limits to narrow to human/animal only ...
Unusual mutations in high functioning fragile X males
... We report on two further cases of nonretarded males with full mutations who were by segregation analysis classified as normal transmitting males and were the founders of large fragile X families. Both were expected to carry premutations but showed highly unusual patterns of mutations which may not a ...
... We report on two further cases of nonretarded males with full mutations who were by segregation analysis classified as normal transmitting males and were the founders of large fragile X families. Both were expected to carry premutations but showed highly unusual patterns of mutations which may not a ...
Joubert syndrome: Report of a neonatal case
... delayed; she could not control her head, follow objects, roll over or sit up. Respiratory abnormalities have been considered a ‘classic hallmark’ of the condition, present in all four siblings initially described by Joubert and colleagues (1). However, it is not a consistent feature; it was reported ...
... delayed; she could not control her head, follow objects, roll over or sit up. Respiratory abnormalities have been considered a ‘classic hallmark’ of the condition, present in all four siblings initially described by Joubert and colleagues (1). However, it is not a consistent feature; it was reported ...
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 ...
A novel arginine substitution mutation in 1A domain and a novel 27
... Figure 2 Mutational analysis of families A and B. (A) Left side of panel shows normal sequence of K12 exon 1 from unaffected member of family A. Right side of panel shows mutant sequence of K12 exon 1 from affected member of family A, representing a heterozygous ARC transversion (arrow) at the third ...
... Figure 2 Mutational analysis of families A and B. (A) Left side of panel shows normal sequence of K12 exon 1 from unaffected member of family A. Right side of panel shows mutant sequence of K12 exon 1 from affected member of family A, representing a heterozygous ARC transversion (arrow) at the third ...
Glucose-6-Phosphate Dehydrogenase (GGPD) Mutations
... occurring at nt positions 95, 487, 493, 1024, 1360, and 1388 could a l r k derived from an ancient haplotype VI + VII. The 1376 mutation was found to be not only associated with haplo- ...
... occurring at nt positions 95, 487, 493, 1024, 1360, and 1388 could a l r k derived from an ancient haplotype VI + VII. The 1376 mutation was found to be not only associated with haplo- ...
Text S1 Snitkin and Segrè, Epistatic interaction maps relative to
... congruence and common pathway membership. A comparison of the performance of different metrics averaged across all phenotypes shows that while the performance is similar for different metrics across all phenotypes (Figure S2A), it can vary greatly, for a given metric, across different phenotypes (Fi ...
... congruence and common pathway membership. A comparison of the performance of different metrics averaged across all phenotypes shows that while the performance is similar for different metrics across all phenotypes (Figure S2A), it can vary greatly, for a given metric, across different phenotypes (Fi ...
Questions - Vanier College
... The genetic counsellor is familiar with hemophilia and factor VIII deficiency, but decides to do her due diligence regardless and do some background research. What she finds is that the gene encoding the factor VIII protein is called F8, and that this gene is expressed primarily in the liver. Once ...
... The genetic counsellor is familiar with hemophilia and factor VIII deficiency, but decides to do her due diligence regardless and do some background research. What she finds is that the gene encoding the factor VIII protein is called F8, and that this gene is expressed primarily in the liver. Once ...
Clinical Laboratory Reports in Molecular Pathology
... stated. This is expressed as a normal range for a quantitative test, along with the units of measurement. Interassay reproducibility is an important parameter that allows a clinician to determine whether 2 sequential test results are significantly different from each other, and information about ass ...
... stated. This is expressed as a normal range for a quantitative test, along with the units of measurement. Interassay reproducibility is an important parameter that allows a clinician to determine whether 2 sequential test results are significantly different from each other, and information about ass ...
Cytogenetics
... common diagnosed cancer in males Second to lung cancer causing death Identified linked polymorphism on 1q When an affected first degree relative, the risk increases by 2 to 3x About 5-10% of prostate cancer are result of inherited mutation Environmental factor - a high-fat diet Readily d ...
... common diagnosed cancer in males Second to lung cancer causing death Identified linked polymorphism on 1q When an affected first degree relative, the risk increases by 2 to 3x About 5-10% of prostate cancer are result of inherited mutation Environmental factor - a high-fat diet Readily d ...
PraderWilli syndrome resulting from an unbalanced translocation
... Prader–Willi syndrome (PWS) is caused by lack of expression of paternally inherited genes on chromosome 15q11!15q13. Most cases result from microdeletions in proximal chromosome 15q. The remainder results from maternal uniparental disomy of chromosome 15, imprinting center defects, and rarely from b ...
... Prader–Willi syndrome (PWS) is caused by lack of expression of paternally inherited genes on chromosome 15q11!15q13. Most cases result from microdeletions in proximal chromosome 15q. The remainder results from maternal uniparental disomy of chromosome 15, imprinting center defects, and rarely from b ...
EFFECT OF FSH β-SUB UNIT AND FSHR GENES
... affecting alteration of FSH function. Since same homozygous in human affecting azoospermia in male (Lindstedt et al., 1998; Phillip et al., 1998; Layman et al., 2002), did not detect CC genotype in bulls, it might have been caused by elimination in selection process (Dai et al., 2009). In the presen ...
... affecting alteration of FSH function. Since same homozygous in human affecting azoospermia in male (Lindstedt et al., 1998; Phillip et al., 1998; Layman et al., 2002), did not detect CC genotype in bulls, it might have been caused by elimination in selection process (Dai et al., 2009). In the presen ...
Growth hormone genotyping by MspI restriction enzyme and PCR
... and pulsatile manner, the pattern of which plays important role in postnatal longitudinal growth and development, tissue growth, lactation, reproduction, as well as protein, lipid and carbohydrate metabolism (Dybus et al. 2002). GH gene with its functional and positional potential has been widely us ...
... and pulsatile manner, the pattern of which plays important role in postnatal longitudinal growth and development, tissue growth, lactation, reproduction, as well as protein, lipid and carbohydrate metabolism (Dybus et al. 2002). GH gene with its functional and positional potential has been widely us ...
A Molecularly Defined Duplication Set for the X Chromosome of
... that these regions of the Drosophila genome cannot be stably cloned in Escherichia coli. Generation of transgenic Drosophila lines: The P[acman] clones in the tiling path were injected into embryos that carried the VK33 attP docking site at polytene location 65B2 on chromosome arm 3L (Venken et al. ...
... that these regions of the Drosophila genome cannot be stably cloned in Escherichia coli. Generation of transgenic Drosophila lines: The P[acman] clones in the tiling path were injected into embryos that carried the VK33 attP docking site at polytene location 65B2 on chromosome arm 3L (Venken et al. ...
Hypotonic infants and the Prader-Willi Syndrome
... syndrome (PWS) due to hypotonia, poor sucking, slight facial anomalies and minor abnormalities of hands and feet. PWS is a neurobehavioural disorder characterized by two distinct phases; in the first, the neonate presents variable degree of hypotonia, feeding problems with none or poor sucking; hypo ...
... syndrome (PWS) due to hypotonia, poor sucking, slight facial anomalies and minor abnormalities of hands and feet. PWS is a neurobehavioural disorder characterized by two distinct phases; in the first, the neonate presents variable degree of hypotonia, feeding problems with none or poor sucking; hypo ...
7) NATURAL SELECTION: the process by which forms of life having
... A gene (two alleles working together) controls a trait. This gene could be the one that determines the larkey’s eye color, or perhaps the pattern of its fur. Let’s say it determines eye color. The larkey has four features of interest to us. Each feature is controlled by one gene. Each of the four g ...
... A gene (two alleles working together) controls a trait. This gene could be the one that determines the larkey’s eye color, or perhaps the pattern of its fur. Let’s say it determines eye color. The larkey has four features of interest to us. Each feature is controlled by one gene. Each of the four g ...
With the inclusion of incomplete dominance
... is the MN blood groups of humans. The M and N alleles are expressed in the form of an M or N antigen present on the surface of red blood cells. Homozygotes (LMLM and LNLN) express either the M or the N allele, and heterozygotes (LMLN) express both alleles equally. In a selfcross between heterozygot ...
... is the MN blood groups of humans. The M and N alleles are expressed in the form of an M or N antigen present on the surface of red blood cells. Homozygotes (LMLM and LNLN) express either the M or the N allele, and heterozygotes (LMLN) express both alleles equally. In a selfcross between heterozygot ...
Sporadic ALS with compound heterozygous mutations in the
... patients with heterozygous SQSTM1 mutations [20]. However, in the LMNs of the present ALS patient with compound heterozygous SQSTM1 mutations, NCIs positive for only p62 were observed, and Bunina bodies were absent. These results suggest that the neuropathological features of ALS with SQSTM1 mutatio ...
... patients with heterozygous SQSTM1 mutations [20]. However, in the LMNs of the present ALS patient with compound heterozygous SQSTM1 mutations, NCIs positive for only p62 were observed, and Bunina bodies were absent. These results suggest that the neuropathological features of ALS with SQSTM1 mutatio ...
Questions and Problems, 19.1 How can inducible and repressible
... Constitutive mutations produce elevated enzyme levels at all times; they may be of two types: Oc or I . Assume that all other DNA present is wild-type. Outline how the two constitutive mutants can be distinguished with respect to (a) map position, (b) regulation of enzyme levels in Oc/O+ versus I /I ...
... Constitutive mutations produce elevated enzyme levels at all times; they may be of two types: Oc or I . Assume that all other DNA present is wild-type. Outline how the two constitutive mutants can be distinguished with respect to (a) map position, (b) regulation of enzyme levels in Oc/O+ versus I /I ...
Coc - ARVO Journals
... locus resides on chromosome 16. Further mapping with additional markers from chromosome 16 for all 103 backcrossed progeny positioned Coc between markers D16MU134 and D16MU63. This region is syntenic to human chromosome 3. Conclusions. Mapping of the Coc locus to mouse chromosome 16 provides the pos ...
... locus resides on chromosome 16. Further mapping with additional markers from chromosome 16 for all 103 backcrossed progeny positioned Coc between markers D16MU134 and D16MU63. This region is syntenic to human chromosome 3. Conclusions. Mapping of the Coc locus to mouse chromosome 16 provides the pos ...
Saethre–Chotzen syndrome
![](https://commons.wikimedia.org/wiki/Special:FilePath/Sutures_from_top.png?width=300)
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.