Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report Open Access
... neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely Parkinsonism ...
... neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely Parkinsonism ...
Gene Transfer
... 1990). Those studies examined the frequency of repair of partial deletion mutations in copies of tandemly inserted genes in culture under carefully controlled conditions. Studies in whole plants suggest less frequent events (Assaad and Signer, 1992; Swoboda et al., 1994) and have also demonstrated t ...
... 1990). Those studies examined the frequency of repair of partial deletion mutations in copies of tandemly inserted genes in culture under carefully controlled conditions. Studies in whole plants suggest less frequent events (Assaad and Signer, 1992; Swoboda et al., 1994) and have also demonstrated t ...
Gene sequences useful for predicting relatedness of whole
... call for identification of a set of such genes (Stackebrandt et al., 2002). The committee’s consensus was that analysis of at least five genes of diverse chromosomal loci and wide distribution could provide sufficient information to distinguish a bacterial species from related taxa. Once a species w ...
... call for identification of a set of such genes (Stackebrandt et al., 2002). The committee’s consensus was that analysis of at least five genes of diverse chromosomal loci and wide distribution could provide sufficient information to distinguish a bacterial species from related taxa. Once a species w ...
View/print full test page
... If microarray analysis is performed, it will be done using a high resolution, single nucleotide polymorphism (SNP) platform designed to interrogate the whole genome at a resolution much higher than is possible using traditional karyotyping or fluorescence in situ hybridization (FISH) methodologies. ...
... If microarray analysis is performed, it will be done using a high resolution, single nucleotide polymorphism (SNP) platform designed to interrogate the whole genome at a resolution much higher than is possible using traditional karyotyping or fluorescence in situ hybridization (FISH) methodologies. ...
A haploid-specific transcriptional response to
... gene expression in three isogenic sets of yeast strains differing only in terms of ploidy, which were subjected to wholegenome expression analysis. The results obtained confirmed the existence of both ploidy-dependent and mating-typespecific gene expression patterns under normal growth condi- 50 tio ...
... gene expression in three isogenic sets of yeast strains differing only in terms of ploidy, which were subjected to wholegenome expression analysis. The results obtained confirmed the existence of both ploidy-dependent and mating-typespecific gene expression patterns under normal growth condi- 50 tio ...
chapt10_lecture - Globe
... • Accidental changes in genes are called mutations mutations occur only rarely and almost always result in recessive alleles • not eliminated from the population because they are not usually expressed in most individuals (heterozygotes) • in some cases, particular mutant alleles have become more c ...
... • Accidental changes in genes are called mutations mutations occur only rarely and almost always result in recessive alleles • not eliminated from the population because they are not usually expressed in most individuals (heterozygotes) • in some cases, particular mutant alleles have become more c ...
Unusual mutations in high functioning fragile X males
... are called full fragile X mutations and usually coincide with hypermethylation of the expanded repeat5 6 and of upstream promoter elements.' This results in downregulation of transcription8 and absence of FMR1 protein (FMRP) in cells normally expressing the FMR1 gene."-1' Most patients with full mut ...
... are called full fragile X mutations and usually coincide with hypermethylation of the expanded repeat5 6 and of upstream promoter elements.' This results in downregulation of transcription8 and absence of FMR1 protein (FMRP) in cells normally expressing the FMR1 gene."-1' Most patients with full mut ...
Nature Genetics - David Page Lab
... occurs in embryogenesis but the gene partially reactivates during later stages of development7. Mouse SMCX appears to be in an intermediate state in which Y function is normal but X inactivation has not been completely successful. These data demonstrate that the X-inactivation system has embraced th ...
... occurs in embryogenesis but the gene partially reactivates during later stages of development7. Mouse SMCX appears to be in an intermediate state in which Y function is normal but X inactivation has not been completely successful. These data demonstrate that the X-inactivation system has embraced th ...
Genome Annotation
... A novel search for controlling element motifs. All genes are controlled by sequences upstream of the transcriptional start site. A number of the sequences are important because they represent the site to which transcription factor, proteins that control gene expression, bind. A major goal of annota ...
... A novel search for controlling element motifs. All genes are controlled by sequences upstream of the transcriptional start site. A number of the sequences are important because they represent the site to which transcription factor, proteins that control gene expression, bind. A major goal of annota ...
Selective Pressures on Genomes in Molecular Evolution
... probability of faithfully transmitting genetic information to the next generation, which we have assumed is maximized by evolution, must account for the noise affecting the transmission process. However, just like there are many ways to express a concept in English words, there are many messages (se ...
... probability of faithfully transmitting genetic information to the next generation, which we have assumed is maximized by evolution, must account for the noise affecting the transmission process. However, just like there are many ways to express a concept in English words, there are many messages (se ...
Competency in Mismatch Repair Prohibits Clonal Expansion of
... The phenotype of MNNG resistance in cultured cells can be attributed in part to adequate expression of MGMT (4, 7). However, some cells which lack MGMT show resistance to MNNG despite the formation of alkylated guanine nucleotides (1, 8), and are now known to be hypermutable because of defects in th ...
... The phenotype of MNNG resistance in cultured cells can be attributed in part to adequate expression of MGMT (4, 7). However, some cells which lack MGMT show resistance to MNNG despite the formation of alkylated guanine nucleotides (1, 8), and are now known to be hypermutable because of defects in th ...
Test Info Sheet
... sporadic. Aniridia may be caused by heterozygous mutations in the PAX6 gene. PAX6 mutations have also been described in a host of other ocular developmental abnormalities that appear clinically distinct from aniridia, including: microphthalmia with or without coloboma; optic nerve hypoplasia and oth ...
... sporadic. Aniridia may be caused by heterozygous mutations in the PAX6 gene. PAX6 mutations have also been described in a host of other ocular developmental abnormalities that appear clinically distinct from aniridia, including: microphthalmia with or without coloboma; optic nerve hypoplasia and oth ...
Genetic Imprinting in Maize Bhavani P1*, Harinikumar K. M1
... phenotype while maternally inherited R allele gives solid phenotype (Kermicle, 1970). The imprinting of R allele appears to be due to differential expression of the maternal allele in relation to paternal allele rather than silencing of paternal allele (Kermicle and Alleman, 1990). Alpha-tubulin gen ...
... phenotype while maternally inherited R allele gives solid phenotype (Kermicle, 1970). The imprinting of R allele appears to be due to differential expression of the maternal allele in relation to paternal allele rather than silencing of paternal allele (Kermicle and Alleman, 1990). Alpha-tubulin gen ...
Characterisation of novel defective thiopurine S
... even fatal hematopoietic toxicity when they are treated with standard doses of thiopurine drugs [3–5]. The human TPMT gene exhibits genetic polymorphism and 90% of Caucasians inherit high TPMT activity, 10% intermediate TPMT activity and 0.3% low TPMT activity [6]. Three major variants, TPMT*2 (c.23 ...
... even fatal hematopoietic toxicity when they are treated with standard doses of thiopurine drugs [3–5]. The human TPMT gene exhibits genetic polymorphism and 90% of Caucasians inherit high TPMT activity, 10% intermediate TPMT activity and 0.3% low TPMT activity [6]. Three major variants, TPMT*2 (c.23 ...
Sunbeds and skin cancer Sunbeds aren`t a safe alternative to
... your skin coarse, leathery and wrinkled. Boosting your tan by having two sunbed sessions within 24 hours or after sunbathing is particularly harmful. Get your beauty sleep in your own bed, rather than on a sunbed. Sunbed tanning is no safer than sun tanning Sunbeds are not a 'safe' alternative to su ...
... your skin coarse, leathery and wrinkled. Boosting your tan by having two sunbed sessions within 24 hours or after sunbathing is particularly harmful. Get your beauty sleep in your own bed, rather than on a sunbed. Sunbed tanning is no safer than sun tanning Sunbeds are not a 'safe' alternative to su ...
length of exons and introns in genes of some human chromosomes
... and number of introns in genes was similar and the high correlation coefficients were also presented too (Table 1). In the group with low gene density (3 genes/Mbp) the gene lengths increased from 27194 nt (1–2 introns in a gene) to 332554 nt (15 and more introns in a gene). The chromosomes 2, 21 an ...
... and number of introns in genes was similar and the high correlation coefficients were also presented too (Table 1). In the group with low gene density (3 genes/Mbp) the gene lengths increased from 27194 nt (1–2 introns in a gene) to 332554 nt (15 and more introns in a gene). The chromosomes 2, 21 an ...
Genetic Manipulation of Kinetoplastida
... A second example concerns a glycosomal membrane protein, TbPEX11, which is the homologue of a yeast gene that is required for division of peroxisomes. (Glycosomes are evolutionarily related to peroxisomes.) After the addition of tetracycline to trypanosomes containing an inducible PEX11 gene, the ce ...
... A second example concerns a glycosomal membrane protein, TbPEX11, which is the homologue of a yeast gene that is required for division of peroxisomes. (Glycosomes are evolutionarily related to peroxisomes.) After the addition of tetracycline to trypanosomes containing an inducible PEX11 gene, the ce ...
subunit gene. - Radboud Repository
... program. Amino acids in black boxes are identical with the consensus sequence (not shown), while those in shaded boxes represent similar residues. The nucleotide sequences have been submitted to the EMBL database, with accession numbers Y08200 and Y08201 for RABGGTA and RABGGTB respectively. ...
... program. Amino acids in black boxes are identical with the consensus sequence (not shown), while those in shaded boxes represent similar residues. The nucleotide sequences have been submitted to the EMBL database, with accession numbers Y08200 and Y08201 for RABGGTA and RABGGTB respectively. ...
Leukaemia Section del(11)(p12p13) Atlas of Genetics and Cytogenetics in Oncology and Haematology
... the proximal LMO2 promoter. In one T-ALL case, this recurrent deletion resulted in a RAG2-LMO2 fusion gene, bringing the LMO2 gene under the control of RAG2 promoter sequences. However, it was shown that promoter substitution was not the main activational mechanism as none of the other del(11)(p12p1 ...
... the proximal LMO2 promoter. In one T-ALL case, this recurrent deletion resulted in a RAG2-LMO2 fusion gene, bringing the LMO2 gene under the control of RAG2 promoter sequences. However, it was shown that promoter substitution was not the main activational mechanism as none of the other del(11)(p12p1 ...
Identification of a novel duplication in the APC gene using multiple
... Among a series of unrelated patients clinically diagnosed with FAP, 15 negative results were obtained by screening for APC germline mutations using dHPLC and direct sequencing of all samples exhibiting abnormal dHPLC profiles. We then used MLPA analysis to screen those samples for exon deletions or ...
... Among a series of unrelated patients clinically diagnosed with FAP, 15 negative results were obtained by screening for APC germline mutations using dHPLC and direct sequencing of all samples exhibiting abnormal dHPLC profiles. We then used MLPA analysis to screen those samples for exon deletions or ...
Oncogenomics
Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.