Case Report Novel Sonic Hedgehog Mutation in a Couple
... 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 environmental influences may contribute as gene modifie ...
... 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 environmental influences may contribute as gene modifie ...
Title: Evolution of dosage compensation in Anolis carolinensis, a
... male- or female-heterogametic sex determination. In addition, dosage compensation in XX/XY systems may not be as complete as previously thought. About 15–25% of X-linked genes escape inactivation in humans, with the proportion differing greatly among regions of the X chromosome (Carrel and Willard 2 ...
... male- or female-heterogametic sex determination. In addition, dosage compensation in XX/XY systems may not be as complete as previously thought. About 15–25% of X-linked genes escape inactivation in humans, with the proportion differing greatly among regions of the X chromosome (Carrel and Willard 2 ...
Recurrent Pregnancy Loss and Its Relation to Combined Parental
... RPL is classically defined as the occurrence of three or more consecutive losses of clinically recognized pregnancies prior to the 20th week of gestation (ectopic and molar pregnancies are not included). The ASRM defines RPL as two or more failed pregnancies (by ultrasound or histopathological exami ...
... RPL is classically defined as the occurrence of three or more consecutive losses of clinically recognized pregnancies prior to the 20th week of gestation (ectopic and molar pregnancies are not included). The ASRM defines RPL as two or more failed pregnancies (by ultrasound or histopathological exami ...
... missing heritability, geneticists also call for the rescue of the concept of gene-gene epistatic interrelations [70] that would increase significantly the role of found gene variants [71, 72], a hypothesis that remains yet impossible to prove but has a lot of biological rationale. Epistatic interact ...
the molecular similarity between Mowat-Wilson syndrome
... ipsilateral neocortical axonal growth29,30. A recent study demonstrated that de novo heterozygous Zeb2 KO mice, which were established by inducing the Zeb2 mutation in germ cells, develop multiple defects relevant to MOWS, including craniofacial abnormalities and defective corpus callosum formation2 ...
... ipsilateral neocortical axonal growth29,30. A recent study demonstrated that de novo heterozygous Zeb2 KO mice, which were established by inducing the Zeb2 mutation in germ cells, develop multiple defects relevant to MOWS, including craniofacial abnormalities and defective corpus callosum formation2 ...
MUTATION STUDIES AT THE A, LOCUS IN MAIZE. I. A
... 2/3 of the a class counts from both classes. Thus 0.73 - 2/3 (0.73) = 0.24 dots for each a gene per seed and 98.0 - 2/3 (0.73) = 97.5 dots for each a" gene per seed. The frequency of a" dots is, therefore, 97.5/0.24 or 406 times as great as a. This is misleading as a large portion of the am dots are ...
... 2/3 of the a class counts from both classes. Thus 0.73 - 2/3 (0.73) = 0.24 dots for each a gene per seed and 98.0 - 2/3 (0.73) = 97.5 dots for each a" gene per seed. The frequency of a" dots is, therefore, 97.5/0.24 or 406 times as great as a. This is misleading as a large portion of the am dots are ...
The Ehlers-Danlos syndrome: on beyond collagens
... is uncompensated and leads to a reduction in COL5A1 mRNA and α1(V) procollagen chains. This accounts for 30–50% of classical EDS cases. (b) Many proline and lysine residues in the translated procollagen chains are hydroxylated by lysyl- and proline hydroxylases. Hydroxylation is essential for subseq ...
... is uncompensated and leads to a reduction in COL5A1 mRNA and α1(V) procollagen chains. This accounts for 30–50% of classical EDS cases. (b) Many proline and lysine residues in the translated procollagen chains are hydroxylated by lysyl- and proline hydroxylases. Hydroxylation is essential for subseq ...
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... active. Chromosome silencing of one X chromosome, normally chosen at random, then occurs coincident with cellular differentiation. Once chromosome silencing has been established it is stably maintained through all subsequent cell divisions. We are trying to understand developmental regulation of X i ...
... active. Chromosome silencing of one X chromosome, normally chosen at random, then occurs coincident with cellular differentiation. Once chromosome silencing has been established it is stably maintained through all subsequent cell divisions. We are trying to understand developmental regulation of X i ...
Patterns of Inheritance Family Studies
... Heterogeneity can also occur at the allelic level. In the majority of single-gene disorders (e.g., β-thalassemia) a large number of different mutations have been identified as being responsible (p. 160). There are individuals who have two different mutations at the same locus and are known as compou ...
... Heterogeneity can also occur at the allelic level. In the majority of single-gene disorders (e.g., β-thalassemia) a large number of different mutations have been identified as being responsible (p. 160). There are individuals who have two different mutations at the same locus and are known as compou ...
Genetic association between the PRKCH gene encoding protein
... number of potentially important non-HLA loci were identified. Several loci (e.g., 1p, 1q, 2q, 5q, 13q, 14q, 16p, 18p, and Xq) overlapped ⱖ2 genome screens (8); however, other than the HLA region, no obvious consensus regarding which chromosomal regions would be most likely to contain RA susceptibili ...
... number of potentially important non-HLA loci were identified. Several loci (e.g., 1p, 1q, 2q, 5q, 13q, 14q, 16p, 18p, and Xq) overlapped ⱖ2 genome screens (8); however, other than the HLA region, no obvious consensus regarding which chromosomal regions would be most likely to contain RA susceptibili ...
Studies of the Growth Hormone-Prolactin Gene Family and their
... Nevertheless, the prevalence of functional gene copies seems to be remarkably high. Analysis of the human genome showed that ~5% of the genome sequence consists of recent segmental duplications (90-100% sequence identity, corresponding to the last ~40 million years of human evolution), with the par ...
... Nevertheless, the prevalence of functional gene copies seems to be remarkably high. Analysis of the human genome showed that ~5% of the genome sequence consists of recent segmental duplications (90-100% sequence identity, corresponding to the last ~40 million years of human evolution), with the par ...
Document
... (between locus yY and zZ) and is followed by a genetic exchange mediated by RecA (an exchange between the lagging strand and the leading strand template is shown). (B3) RuvC resolves the first Holliday junction bound by RuvAB. As in pathway A, the outcome, monomeric or dimeric chromosome, depends on ...
... (between locus yY and zZ) and is followed by a genetic exchange mediated by RecA (an exchange between the lagging strand and the leading strand template is shown). (B3) RuvC resolves the first Holliday junction bound by RuvAB. As in pathway A, the outcome, monomeric or dimeric chromosome, depends on ...
characterizing the genetic bases of autosomal recessive disorders
... Autosomal recessive disorders have devastating effects on patients and their families. Elucidating the genetic bases of such disorders is essential to improve their clinical outcome and for implementing effective prevention programs. In this dissertation, the genetic bases of seven autosomal recessi ...
... Autosomal recessive disorders have devastating effects on patients and their families. Elucidating the genetic bases of such disorders is essential to improve their clinical outcome and for implementing effective prevention programs. In this dissertation, the genetic bases of seven autosomal recessi ...
Solid Tumour Section Soft tissue tumors: Ewing's tumors/Primitive neurectodermal tumors (PNET)
... The treatment of Ewing's tumours is generally based on combined therapy with adjuvant chemotherapy, surgical resection and radiotherapy. Prognosis Combined therapies have largely improved the prognosis of Ewing's tumours in the recent years; the prognosis is mainly determined by the presence of meta ...
... The treatment of Ewing's tumours is generally based on combined therapy with adjuvant chemotherapy, surgical resection and radiotherapy. Prognosis Combined therapies have largely improved the prognosis of Ewing's tumours in the recent years; the prognosis is mainly determined by the presence of meta ...
Chromosomal breakpoint positions suggest a direct role for radiation
... properties, but was not sucient for transformation (Santoro et al., 1993). However, malignant phenotype was obtained by cotransfection with H-RAS or K-RAS oncogenes. An alternative to the direct pathway is that radiation does not act directly to produce the RET/PTC3 fusion, but instead may cause pe ...
... properties, but was not sucient for transformation (Santoro et al., 1993). However, malignant phenotype was obtained by cotransfection with H-RAS or K-RAS oncogenes. An alternative to the direct pathway is that radiation does not act directly to produce the RET/PTC3 fusion, but instead may cause pe ...
Developmental timing in Dictyostelium is regulated by the Set1 histone methyltransferase
... independent set1 mutant clones and the parental strain AX2 using RNeasy columns (Qiagen). 25 μg of each sample was primed with anchored oligo(dT) and separately labelled with Cy3 and Cy5 using Superscript III reverse transcriptase (Invitrogen). Each set of mutant labelled cDNA was then paired with t ...
... independent set1 mutant clones and the parental strain AX2 using RNeasy columns (Qiagen). 25 μg of each sample was primed with anchored oligo(dT) and separately labelled with Cy3 and Cy5 using Superscript III reverse transcriptase (Invitrogen). Each set of mutant labelled cDNA was then paired with t ...
Role of the p21 Protein in the Fanconi Anemia Pathway
... • Major target of the tumor suppressor transcription factor p53 Figure 8.4 The Biology of Cancer (© Garland Science 2007) ...
... • Major target of the tumor suppressor transcription factor p53 Figure 8.4 The Biology of Cancer (© Garland Science 2007) ...
the PDF file
... can play dramatic roles in shaping geographically or culturally isolated populations, such as Jews. • If the community is small enough, even harmful mutations that drift into the population and tha ...
... can play dramatic roles in shaping geographically or culturally isolated populations, such as Jews. • If the community is small enough, even harmful mutations that drift into the population and tha ...
References - Plant Developmental Biology
... Confocal laser scanning microscopy (CLSM) represents one of the most significant advances in optical microscopy ever developed. This technique enables visualization deep within both living and fixed cells and tissues and affords the ability to collect sharply defined images of cellular components or ...
... Confocal laser scanning microscopy (CLSM) represents one of the most significant advances in optical microscopy ever developed. This technique enables visualization deep within both living and fixed cells and tissues and affords the ability to collect sharply defined images of cellular components or ...
Early assessment of ambiguous genitalia
... avert a salt losing crisis. Rarer forms of CAH (steroidogenic acute regulatory protein (StAR) deficiency, 3b-hydroxysteroid dehydrogenase deficiency) may also present with an adrenal crisis in undervirilised males. Karyotype As the differential diagnosis and a number of subsequent investigations wil ...
... avert a salt losing crisis. Rarer forms of CAH (steroidogenic acute regulatory protein (StAR) deficiency, 3b-hydroxysteroid dehydrogenase deficiency) may also present with an adrenal crisis in undervirilised males. Karyotype As the differential diagnosis and a number of subsequent investigations wil ...
Complete Genome Sequence of Bacillus thuringiensis Strain 407 Cry-
... a biopesticide, and there is a great deal of interest to understand further its pathogenic properties and how host resistance may evolve. Strains of B. thuringiensis vary in their amenability to genetic manipulation, and acrystalliferous strains may have higher transformation frequencies than do cry ...
... a biopesticide, and there is a great deal of interest to understand further its pathogenic properties and how host resistance may evolve. Strains of B. thuringiensis vary in their amenability to genetic manipulation, and acrystalliferous strains may have higher transformation frequencies than do cry ...
Flowering-Time Genes Modulate the Response to
... 35S::LFY is completely epistatic, a late-flowering mutant carrying the 35S::LFY transgene should produce the same number of leaves as 35S::LFY plants in an otherwise wildtype background, indicating that the delay in flowering caused by such a late-flowering mutation is mainly caused by down-regulati ...
... 35S::LFY is completely epistatic, a late-flowering mutant carrying the 35S::LFY transgene should produce the same number of leaves as 35S::LFY plants in an otherwise wildtype background, indicating that the delay in flowering caused by such a late-flowering mutation is mainly caused by down-regulati ...
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.