Neonatal diabetes mellitus: A model for personalized medicine
... of every 100,000 live births. It can be either permanent or transient, and recent studies indicate that is likely to have an underlying genetic cause, particularly when diagnosed before 6 months of age. Permanent neonatal diabetes is most commonly due to activating mutations in either of the genes e ...
... of every 100,000 live births. It can be either permanent or transient, and recent studies indicate that is likely to have an underlying genetic cause, particularly when diagnosed before 6 months of age. Permanent neonatal diabetes is most commonly due to activating mutations in either of the genes e ...
Marfan syndrome: from molecular pathogenesis to clinical treatment
... The paradoxical findings in Loeys-Dietz syndrome suggest that heterozygous TGFBR mutations either trigger unproductive compensatory events or have themselves gain-of-function properties. It also seems possible that some phenotypic manifestations of LoeysDietz syndrome reflect blunted TGFb responsive ...
... The paradoxical findings in Loeys-Dietz syndrome suggest that heterozygous TGFBR mutations either trigger unproductive compensatory events or have themselves gain-of-function properties. It also seems possible that some phenotypic manifestations of LoeysDietz syndrome reflect blunted TGFb responsive ...
Testing the ABC floral-organ identity model: expression of
... but overlapping domains. Only cells in the second and third whorl presumptive region (where both genes are expressed) continue to express AP3 and PI past stage 4. Neither AP3 nor PI are expressed past stage 4 in either Ap3 or Pi lossof-function mutants. Expression of PI throughout the flower leads t ...
... but overlapping domains. Only cells in the second and third whorl presumptive region (where both genes are expressed) continue to express AP3 and PI past stage 4. Neither AP3 nor PI are expressed past stage 4 in either Ap3 or Pi lossof-function mutants. Expression of PI throughout the flower leads t ...
Genetic studies of psoriasis and psoriatic arthritis
... locus on chromosome 6, although different alleles within this locus have been found to associate with the respective diseases. While this is the strongest and most replicated locus, other susceptibility loci have also been identified through genome-wide linkage studies and candidate gene approaches. ...
... locus on chromosome 6, although different alleles within this locus have been found to associate with the respective diseases. While this is the strongest and most replicated locus, other susceptibility loci have also been identified through genome-wide linkage studies and candidate gene approaches. ...
The revised Ghent nosology for the Marfan syndrome
... Current status of the Ghent nosology The Ghent criteria have found worldwide application in helping physicians to diagnose MFS appropriately. New molecular techniques allow the detection of FBN1 mutations in up to 97% of Marfan patients who fulfil the Ghent criteria.7 8 This suggests that the current ...
... Current status of the Ghent nosology The Ghent criteria have found worldwide application in helping physicians to diagnose MFS appropriately. New molecular techniques allow the detection of FBN1 mutations in up to 97% of Marfan patients who fulfil the Ghent criteria.7 8 This suggests that the current ...
Imprinting in the endosperm: a possible role in preventing wide
... placenta, are regulated by a range of epigenetic mechanisms that are globally termed imprinting. Imprinted genes are characterized by their uniparental expression, the other parental allele being silenced. Normal development of the endosperm thus requires a highly specific balance of gene expression ...
... placenta, are regulated by a range of epigenetic mechanisms that are globally termed imprinting. Imprinted genes are characterized by their uniparental expression, the other parental allele being silenced. Normal development of the endosperm thus requires a highly specific balance of gene expression ...
Left-right axis asymmetry determining human Cryptic gene is
... highlights the ability of Snail to control gene expression to the prospective right side of the organism and emphasizes the need to identify the very initial events and genes that are regulated by Snail leading to asymmetric positioning of the organs. As part of the Nodal signalling, the EGF-CFC fam ...
... highlights the ability of Snail to control gene expression to the prospective right side of the organism and emphasizes the need to identify the very initial events and genes that are regulated by Snail leading to asymmetric positioning of the organs. As part of the Nodal signalling, the EGF-CFC fam ...
Intellectual property rights and innovation: Evidence from
... the expression of a gene into a trait such as the presence or absence of a disease. For each gene, I collect data on publications investigating potential genotype-phenotype links, on successfully generated scientific knowledge about genotype-phenotype links, and on the development of genebased diagn ...
... the expression of a gene into a trait such as the presence or absence of a disease. For each gene, I collect data on publications investigating potential genotype-phenotype links, on successfully generated scientific knowledge about genotype-phenotype links, and on the development of genebased diagn ...
rec-mediated recombinational hot spot activity in bacteriophage
... Crosses employing either of two different pure deletion phage strains exhibit recombinational hot spot activity located near the right end of the X chromosome, between the cl and R genes. This hot spot activity persists when unlimited DNA synthesis is allowed. Crosses employing bioi-substituted phag ...
... Crosses employing either of two different pure deletion phage strains exhibit recombinational hot spot activity located near the right end of the X chromosome, between the cl and R genes. This hot spot activity persists when unlimited DNA synthesis is allowed. Crosses employing bioi-substituted phag ...
Hox patterning of the vertebrate axial skeleton
... HOX PATTERNING OF THE VERTEBRATE AXIAL SKELETON 2455 ...
... HOX PATTERNING OF THE VERTEBRATE AXIAL SKELETON 2455 ...
Ret/PTC3 is the most frequent form of gene rearrangement
... papillary thyroid carcinomas only for ret/PTC1 rearrangements and found no rearrangement; Ishizaka et al. (1991) found one ret/PTC1 rearrangement among 11 carcinomas, and Wajjwalku et al. (1992) found only one such alteration among 38 carcinomas. On the basis of those observations, RET gene rearrang ...
... papillary thyroid carcinomas only for ret/PTC1 rearrangements and found no rearrangement; Ishizaka et al. (1991) found one ret/PTC1 rearrangement among 11 carcinomas, and Wajjwalku et al. (1992) found only one such alteration among 38 carcinomas. On the basis of those observations, RET gene rearrang ...
The Interplay of Temperature and Genotype on Patterns
... biologists as it provides the opportunity to respond quickly ...
... biologists as it provides the opportunity to respond quickly ...
DIFFERENTIAL GENE RESPONSE TO MUTAGENS IN
... per locus since it will be impossible to eliminate cases due to adaptation or suppressor mutations. How far this error could have affected the phenomenon of differential mutability in bacteria is difficult to assess, but it is certain that it could not be the whole explanation. There are a number of ...
... per locus since it will be impossible to eliminate cases due to adaptation or suppressor mutations. How far this error could have affected the phenomenon of differential mutability in bacteria is difficult to assess, but it is certain that it could not be the whole explanation. There are a number of ...
Epigenetics for behavioral ecologists
... 2006, see Figure 1). Several recent studies have argued that some behavioral variation, and phenotypic plasticity in general, is mediated by epigenetic mechanisms, molecular-level processes (e.g., DNA methylation, histone modification, RNAi) that modify gene expression but do not change DNA sequence ...
... 2006, see Figure 1). Several recent studies have argued that some behavioral variation, and phenotypic plasticity in general, is mediated by epigenetic mechanisms, molecular-level processes (e.g., DNA methylation, histone modification, RNAi) that modify gene expression but do not change DNA sequence ...
Epigenetics & Chromatin Xist through transcriptional control of Dnmt3a
... genes in XX females relative to XY males. Early in development all cells in female embryos inactivate most genes on one of the two X chromosomes. In embryonic lineages X inactivation is normally random, with an equal probability of either the maternal or paternal X undergoing X inactivation in any g ...
... genes in XX females relative to XY males. Early in development all cells in female embryos inactivate most genes on one of the two X chromosomes. In embryonic lineages X inactivation is normally random, with an equal probability of either the maternal or paternal X undergoing X inactivation in any g ...
hemipterous Encodes a Novel Drosophila MAP
... in metazoan development. The cellular and mechanistic aspects of concerted cell movements have been described in several organisms, and a number of studies suggest an important role for cell communication in morphogenesis (for reviews, see Fristrom, ...
... in metazoan development. The cellular and mechanistic aspects of concerted cell movements have been described in several organisms, and a number of studies suggest an important role for cell communication in morphogenesis (for reviews, see Fristrom, ...
HPV - Bowmont Medical Clinic
... Human papillomaviruses are small, double-stranded DNA viruses that infect the epithelium. More than 100 HPV types have been identified; they are differentiated by the genetic sequence of the outer capsid protein L1. Most HPV types infect the cutaneous epithelium and cause common skin warts. About 40 ...
... Human papillomaviruses are small, double-stranded DNA viruses that infect the epithelium. More than 100 HPV types have been identified; they are differentiated by the genetic sequence of the outer capsid protein L1. Most HPV types infect the cutaneous epithelium and cause common skin warts. About 40 ...
lilliputian - Development - The Company of Biologists
... rescue and used as probes to screen various cDNA libraries to isolate a large number of alternatively spliced cDNA clones, including one species that apparently encoded a full-length cDNA (Fig. 1D). Comparison of cDNA sequence to genomic sequence revealed a large transcription unit that spans approx ...
... rescue and used as probes to screen various cDNA libraries to isolate a large number of alternatively spliced cDNA clones, including one species that apparently encoded a full-length cDNA (Fig. 1D). Comparison of cDNA sequence to genomic sequence revealed a large transcription unit that spans approx ...
Granato 1996
... Michael Granato1,*, Fredericus J. M. van Eeden1, Ursula Schach1, Torsten Trowe2, Michael Brand1,†, ...
... Michael Granato1,*, Fredericus J. M. van Eeden1, Ursula Schach1, Torsten Trowe2, Michael Brand1,†, ...
i A Thesis Entitled A Visual Screen for Centriolar Mutants in
... centrioles likely through direct binding of centriolar MT tubulins (Pearson 2009; Bayless 2012; Carvahlo-Santos 2012). Drosophila bld10, poc1c06059, and poc1k245 mutants exhibit short centrioles (Blanchon 2009; Mottier-Pavie 2009). In addition, overexpression of mammalian POC1 leads to over-elongati ...
... centrioles likely through direct binding of centriolar MT tubulins (Pearson 2009; Bayless 2012; Carvahlo-Santos 2012). Drosophila bld10, poc1c06059, and poc1k245 mutants exhibit short centrioles (Blanchon 2009; Mottier-Pavie 2009). In addition, overexpression of mammalian POC1 leads to over-elongati ...
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.