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2,336,900 | Probing the sweet determinants of brazzein: wild-type brazzein and a tasteless variant, brazzein-ins(R18a-I18b), exhibit different pH-dependent NMR chemical shifts. | Brazzein is a small, intensely sweet protein. As a probe of the functional properties of its solvent-exposed loop, two residues (Arg-Ile) were inserted between Leu18 and Ala19 of brazzein. Psychophysical testing demonstrated that this mutant is totally tasteless. NMR chemical shift mapping of differences between this m... |
2,336,901 | Hemoglobin H hydrops fetalis syndrome resulting from the association of the - -SEA deletion and the alphaQuong Szealpha mutation in a Chinese woman. | A case with Hb H hydrops fetalis syndrome resulting from the association of the - -(SEA) deletion and the alpha(Quong Sze)alpha mutation is reported. This is the first description of Hb H hydrops associated with the Hb Quong Sze mutation. |
2,336,902 | A novel polymorphism in the 5' untranslated region of the porcine cytochrome b5 (CYB5) gene is associated with decreased fat androstenone level. | Raising intact male pigs would have a significant economic impact on the pork industry; however, the presence of 16-androstene (a major cause of boar taint) in meat from male pigs would be highly objectionable to consumers. In pigs, a positive correlation has been found between cytochrome b5 (CYB5) and production of 16... |
2,336,903 | Instability of chimaeric antibody secretion by anti-carcinoembryonic antigen producing hybridoma cells after gene targeting. | To produce a chimaeric version of the 11-285-14 anti-carcinoembryonic antigen (CEA) monoclonal antibody using a gene targeting approach.</AbstractText>A replacement vector was constructed to insert the human constant gamma1 gene within the mouse heavy chain locus of 11-285-14 hybridoma cells. The mouse constant gamma1 ... |
2,336,904 | Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis. | In the Arabian Gulf region, hemoglobin (Hb) H disease usually results from homozygosity or compound heterozygosity involving the alpha2-globin gene polyadenylation (poly A) signal (AATAAA-->AATAAG) mutation (alpha(T)alpha). Here we document the clinical and hemato logical characteristics of children with Hb H diseas... |
2,336,905 | Mutations associated with beta-thalassemia intermedia in Kuwait. | To identify the beta-globin gene mutations associated with beta-thalassemia (beta-thal) intermedia in Kuwait.</AbstractText>Eighteen patients from 13 unrelated families, mean age 12.7 +/- 8.1 years, range 4-31 years, were involved in the study. They did not require regular blood transfusion. Complete blood count and ca... |
2,336,906 | Variability of the 3'APOB minisatellite locus in Eastern Slavonic populations. | To describe and compare the 3' apolipoprotein (Apo) B minisatellite allele frequency distributions of Eastern Slavonic populations and their Uralic, Altaic, and Caucasian speaking neighbors.</AbstractText>Healthy individuals of 10 populations among Russians, Byelorussians, Komis and Bashkirs were studied for variable n... |
2,336,907 | Mect1-Maml2 fusion oncogene linked to the aberrant activation of cyclic AMP/CREB regulated genes. | Malignant salivary gland tumors can arise from a t(11;19) translocation that fuses 42 residues from Mect1/Torc1, a cyclic AMP (cAMP)/cAMP-responsive element binding protein (CREB)-dependent transcriptional coactivator, with 982 residues from Maml2, a NOTCH receptor coactivator. To determine if the Mect1-Maml2 fusion on... |
2,336,908 | A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. | Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial malformation caused by null mutations in the TCOF1 gene. High inter and intra familial clinical variability, ranging from mild malar hypoplasia to perinatal death due to airway collapse is observed, but, to date, no genotype-phenotype correlation has... |
2,336,909 | Construction and enzymatic degradation of multilayered poly-l-lysine/DNA films. | The layer-by-layer (LbL) self-assembly of poly-l-lysine (PLL) and deoxyribonucleic acid (DNA) was used to construct the enzymatic biodegradable multilayered films. The LbL build up of DNA multilayers was monitored by UV-vis spectrometry, and atomic force microscopy (AFM). AFM, UV-vis spectrometry and fluorescence spect... |
2,336,910 | Neuromuscular synaptogenesis in wild-type and mutant zebrafish. | Genetic screens for synaptogenesis mutants have been performed in many organisms, but few if any have simultaneously screened for defects in pre- and postsynaptic specializations. Here, we report the results of a small-scale genetic screen, the first in vertebrates, for defects in synaptogenesis. Using zebrafish as a m... |
2,336,911 | Clinical genotyping: the need for interrogation of single nucleotide polymorphisms and mutations in the clinical laboratory. | Detection of single nucleotide polymorphisms (SNPs) and gene mutations is becoming more routine to the clinical laboratory.</AbstractText>Completion of the Human Genome Project has led to new scientific knowledge of human disease processes that has revealed the most fundamental of abnormalities in nucleic acids while a... |
2,336,912 | Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection. | As we enter the post-genome sequencing era and begin to sift through the enormous amount of genetic information now available, the need for technologies that allow rapid, cost-effective, high-throughput detection of specific nucleic acid sequences becomes apparent. Multiplexing technologies, which allow for simultaneou... |
2,336,913 | Present and future of rapid and/or high-throughput methods for nucleic acid testing. | Behind the success of 'completing' the human genome project was a more than 30-year history of technical innovations for nucleic acid testing.</AbstractText>Discovery of specific restriction endonucleases and reverse transcriptase was followed shortly by the development of the first diagnostic nucleic acid tests in the... |
2,336,914 | DRD2 genotypes and substance use in adolescent children of alcoholics. | Research has identified children of alcoholics (COAs) as a population at increased risk for developing substance use problems. Genetic studies support the Al allele of the D2 dopamine receptor gene (DRD2) as a risk marker for alcoholism and substance use disorders. In this study, substance use was assessed in 48 adoles... |
2,336,915 | Gene transfer for hemophilia: can therapeutic efficacy in large animals be safely translated to patients? | Gene transfer is a novel area of therapeutics in which the active agent is a nucleic acid rather than a protein or small molecule. As early as 1997, investigators reported long-term expression of therapeutic levels of factor IX using gene transfer techniques in hemophilia B mice, and similar data were thereafter report... |
2,336,916 | The alpha-toxin of Clostridium septicum is essential for virulence. | Clostridium septicum is the causative agent of spontaneous gas gangrene or atraumatic myonecrosis, a sudden and frequently fatal infection that is increasingly associated with malignancy of the colon. Little is known about the disease process although the focus of virulence studies has been the alpha-toxin, a pore-form... |
2,336,917 | Genetic resistance to bovine tuberculosis in the Iberian wild boar. | Bovine tuberculosis (bTB) is an important re-emerging zoonotic disease, causing major economic losses and constraining international trade of animals and their products. Despite eradication programmes, some countries continue to encounter outbreaks, mainly due to wildlife acting as primary hosts or reservoirs. While th... |
2,336,918 | Genetic testing for inherited breast cancer risk in African Americans. | As genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations is increasingly integrated into the clinical management of high-risk women, it will be important to understand barriers and motivations for genetic counseling among women from underserved minority groups to ensure equitable access to these services. Therefore, ... |
2,336,919 | Family history: the three-generation pedigree. | The collection of a family history ranges from simply asking patients if family members have the same presenting illness to diagramming complex medical and psychosocial relationships as part of a family genogram. The three-generation pedigree provides a pictorial representation of diseases within a family and is the mo... |
2,336,920 | African Jordanian population genetic database on fifteen short tandem repeat genetic loci. | To establish a genetic database of the African-Jordanian population for forensic and paternity testing purposes.</AbstractText>Allelic distribution at fifteen short tandem repeat (STR) loci was determined for 95 healthy unrelated African-Jordanians. The 15 autosomal STR loci, included within the GenePrint PowerPlex 16 ... |
2,336,921 | RETIRED: Fetal soft markers in obstetric ultrasound. | This document has been archived because it contains outdated information. It should not be consulted for clinical use, but for historical research only. Please visit the journal website for the most recent guidelines. |
2,336,922 | HaploChIP: an in vivo assay. | The characterization of protein-deoxyribonucleic acid (DNA) interactions occurring at an allele-specific level is important to resolving the functional consequences of genetic variation in non-coding DNA for gene expression and regulation. The approach of haplotype-specific chromatin immunoprecipitation (i.e., haploChI... |
2,336,923 | Measuring paternal discrepancy and its public health consequences. | Paternal discrepancy (PD) occurs when a child is identified as being biologically fathered by someone other than the man who believes he is the father. This paper examines published evidence on levels of PD and its public health consequences. Rates vary between studies from 0.8% to 30% (median 3.7%, n = 17). Using info... |
2,336,924 | Genetic and economic evaluation of Japanese Black (Wagyu) cattle breeding schemes. | Deterministic simulation was used to evaluate 10 breeding schemes for genetic gain and profitability and in the context of maximizing returns from investment in Japanese Black cattle breeding. A breeding objective that integrated the cow-calf and feedlot segments was considered. Ten breeding schemes that differed in th... |
2,336,925 | Disgust in pre-clinical Huntington's disease: a longitudinal study. | Emotion recognition from both face and voice and experience of emotions were investigated in a group of non-symptomatic people at risk of carrying the Huntington's disease gene who presented for genetic testing. Based on the results of the DNA test, a group of people carrying the Huntington's disease gene (HD+), and a ... |
2,336,926 | An exploratory comparison of genetic counselling protocols for HNPCC predictive testing. | Most UK genetics centres offering predictive testing for hereditary non-polyposis colorectal cancer (HNPCC) use an extended counselling protocol originally developed for Huntington's disease. Shortened counselling may be more appropriate in the context of treatable genetic conditions such as HNPCC. Twenty-six high-risk... |
2,336,927 | A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3-p23.3. | Hereditary gingival fibromatosis (HGF) is a rare, benign disorder characterized by slowly progressive fibrous overgrowth of the gingiva. To date, two loci have been mapped in familial cases with autosomal dominant non-syndromic HGF: GINGF (MIM 135300) on chromosome 2p21-p22 and GINGF2 (MIM 605544) on chromosome 5q13-q2... |
2,336,928 | 'Indirect' BRCA1/2 testing: a useful approach in hereditary breast and ovarian cancer families without a living affected relative. | We report an approach for BRCA1/2 testing whereby genetic testing can be offered to families at high risk of hereditary breast and ovarian cancer but where no DNA from affected relatives is available. By testing two or more unaffected relatives at 50% risk of being heterozygous for a potential BRCA1/2 mutation, there i... |
2,336,929 | Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer. | Despite attention to psychological issues during genetic counselling and testing for hereditary breast and ovarian cancer risk, limited information is available on cancer-specific distress among African American women being targeted for participation in counselling and testing. Therefore, the purpose of this study is t... |
2,336,930 | Phaeochromocytoma: current concepts. | The discovery of novel mutations in genes encoding succinate dehydrogenase subunits has revealed that familial phaeochromocytomas are much more common than previously thought. Genetic screening should be offered to patients with apparently sporadic phaeochromocytomas and their first-degree relatives. An increasing prop... |
2,336,931 | Early effect of gene therapy on a direct muscle neurotization model. | Direct nerve-to-muscle neurotization has been the subject of both clinical and experimental studies. In this study, the authors report a new animal model to test the regenerative properties of a nerve (musculocutaneous) implanted in a muscle (biceps). They also report the early effects of the application at the implant... |
2,336,932 | Haplotyping of STR cluster DXS6801-DXS6809-DXS6789 on Xq21 provides a powerful tool for kinship testing. | Short tandem repeat (STR) markers DXS6801 (GATA41B11), DXS6809 (GATA69B129) and DXS6789 (GATA31F01) are located in a 3-Mb region on human chromosome Xq21, spanning approximately 3-6 cM. Theoretically, this cluster could give rise to 1,144 different haplotypes in the German population. In fact, genotyping of 806 males r... |
2,336,933 | The shared epitope is a marker of severity associated with selection for, but not with response to, infliximab in a large rheumatoid arthritis population. | To determine whether joint destruction, indication for, and response to infliximab in rheumatoid arthritis are associated with the shared epitope (SE) or selected cytokine gene polymorphisms (interleukin (IL) 1B, IL1-RN, and tumour necrosis alpha).</AbstractText>In a large rheumatoid arthritis population of 930 patient... |
2,336,934 | Genetics education in a culturally diverse population--lessons learnt, future directions. | To provide equitable genetics education services, the needs of a culturally and linguistically diverse (CALD) population must be addressed. The mission of the Centre for Genetics Education (CGE) in Australia articulates a commitment to fostering community partnerships, implementing educational strategies and evaluating... |
2,336,935 | Strategies for the prevention of hereditary diseases in a highly consanguineous population. | Autosomal recessive hereditary diseases are relatively common in the Saudi population. The consanguinity rate is in excess of 50% and is a practice that remains strongly embedded within Saudi culture. The impact of this practice is recognized and is being addressed. Early detection and treatment of diseases can reduce ... |
2,336,936 | Prevention of thalassaemia and haemoglobinopathies in remote and isolated communities--the Maldives experience. | The Maldives comprises 1192 islands covering a land mass that amounts to under 1% of the total geographical territory of the country. The population of 280,000 is dispersed across 200 isolated communities, with an average of 1000 people per community. Recent progress in health terms include a reduction in the infant mo... |
2,336,937 | Alpha-thalassaemia and population health in Southeast Asia. | Alpha-thalassaemia mutations are common. In Southeast Asia, they cause Hb H disease and Hb Barts hydrops fetalis. Fetuses with the devastating Hb Barts hydrops fetalis due to the complete lack of alpha-globin gene die in utero or shortly after birth, often during the second or third trimesters. Recent findings on patie... |
2,336,938 | Cancer-specific gene therapy. | Cancer cells transcriptionally activate many genes that are important for uncontrolled proliferation and cell death. Deregulated transcriptional machinery in tumor cells usually consists of increased expression/activity of transcription factors. Ideally, cancer-specific killing can be achieved by delivering a therapeut... |
2,336,939 | DNA sequence variations in the prolyl isomerase Pin1 gene and Alzheimer's disease. | Senile plaques and neurofibrillary tangles (NFT) are the prominent lesions in the brain of Alzheimer's disease (AD) patients. NFT are mainly composed of an abnormally phosphorylated form of tau protein, which has lost its function to bind microtubules and promote their assembly. Tau hyperphosphorylation critically decr... |
2,336,940 | Polymerase chain reaction screening for DNA viruses in paraffin-embedded brains from dogs with necrotizing meningoencephalitis, necrotizing leukoencephalitis, and granulomatous meningoencephalitis. | The objective of this investigation was to determine whether or not herpesvirus (herpes-), adenovirus (adeno-), or canine parvovirus DNA is present in the brains of dogs with necrotizing meningoencephalitis (NME), necrotizing leukoencephalitis (NLE), and granulomatous meningoencephalitis (GME). Paraffin-embedded brain ... |
2,336,941 | Exact family-based association tests for biallelic data. | Family-based study designs have an important role in the search for association between disease phenotypes and genetic markers. Unlike traditional case-control methods, family-based tests use within-family data to avoid identification of spurious associations that may result from population admixture. Many family-based... |
2,336,942 | Identification, characterization, and association analysis of novel genes from the bipolar disorder susceptibility locus on chromosome 4q35. | The cause of bipolar disorder remains unknown, with little knowledge of the underlying biological, anatomical, biochemical, or genetic defect. The disorder is genetically complex, with an increasing number of loci being implicated through genetic linkage studies. We previously identified a bipolar disorder susceptibili... |
2,336,943 | Familial autoinflammatory diseases: genetics, pathogenesis and treatment. | The systemic autoinflammatory diseases are characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. This review focuses mainly on a subset of these illnesses, the hereditary recurrent fevers, which include familial Mediterranean fever, the tumor necrosis factor recept... |
2,336,944 | Microsatellite genotyping for genetic quality testing using sperm cells in the mouse. | We attempted to determine the number of sperm cells required for genotyping of one microsatellite marker. The crude genomic DNA extracted from about 760 or more sperm cells gave sufficient quantity of PCR product using a 20 microl-scale PCR. We also studied the effects of non-ionic detergents on extraction of crude spe... |
2,336,945 | Biochemical and biomechanical properties of lesion and adjacent articular cartilage after chondral defect repair in an equine model. | Chondral defects may lead to degradative changes in the surrounding cartilage, predisposing patients to developing osteoarthritis.</AbstractText>To quantify changes in the biomechanical and biochemical properties of the articular cartilage adjacent to chondral defects after experimental defect repair.</AbstractText>Con... |
2,336,946 | SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. | ALS is believed to be multifactorial in origin with modifying genes affecting its clinical expression. Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive disorder of motor neurons, caused by mutations of the survival motor neuron (SMN) gene. The SMN gene exists in two highly homologous variants: SM... |
2,336,947 | Evaluation of offspring and maternal genetic effects on disease risk using a family-based approach: the "pent" design. | Diseases that develop during gestation may be influenced by the genotype of the mother and the inherited genotype of the embryo/fetus. However, given the correlation between maternal and offspring genotypes, differentiating between inherited and maternal genetic effects is not straightforward. The two-step transmission... |
2,336,948 | Limb-girdle muscular dystrophy in childhood. | LGMD refers to a class of muscular dystrophies with onset in the proximal muscles. They are genetically heterogeneous, with both autosomal recessive and dominant forms. The autosomal recessive forms are more common and in general follow a more severe course compared to the dominant forms. It is important to reach a spe... |
2,336,949 | The diagnosis of muscular dystrophy. | Pediatricians should be familiar with the common presenting signs and symptoms of MD so that they can make a clinical diagnosis of possible MD based on the patient's medical history, a physical examination, and a CK screen. Appropriate referral to a neuromuscular specialist will then enable the precise diagnosis of MD ... |
2,336,950 | [Chronic beryllium disease: a model of interaction between environmental exposure and genetic predisposition. Pathogenesis and clinical features (Part 2)]. | Chronic beryllium disease (CBD) is an occupational lung disease caused by the inhalation of beryllium dust, fumes or metallic salts.</AbstractText>Beryllium affects the lungs via particles deposited in the pulmonary alveoli. These are ingested by alveolar macrophages which act as antigen presenting cells to CD4+ T lymp... |
2,336,951 | IL-2 and IL-4 polymorphisms as candidate genes in schizophrenia. | An immune process, characterized by a relative predominance of the T helper-2 (Th2) system and possibly induced by a viral infection,may be involved in the pathophysiology of schizophrenia. In this context, functional polymorphisms in the Interleukin-2 (IL-2) and Interleukin-4 (IL-4) genes appear to be principal candid... |
2,336,952 | Chromosomal aberrations in squamous cell carcinomas of the upper aerodigestive tract: biologic insights and clinical opportunities. | Oncogenesis results from a progressive accumulation of genetic aberrations consequent to a complex interplay between carcinogenic factors and innate infidelity of DNA surveillance mechanisms. Although the development of genetic aberrations is random, those conferring survival advantages are selected for in a Darwinian ... |
2,336,953 | DNA hybridization detection at heated electrodes. | The detection of DNA hybridization is of central importance to the diagnosis and treatment of genetic diseases. Due to cost limitations, small and easy-to-handle testing devices are required. Electrochemical detection is a promising alternative to evaluation of chip data with optical readout. Independent of the actual ... |
2,336,954 | High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. | Molecular testing for mutations in the gene encoding connexin-26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non-syndromic hearing impairment (ARNSHI). The spectrum of mutations in GJB2 varies considerably among the populations, different alleles... |
2,336,955 | Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. | We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep approach. We first analysed 36 unrelated probands for EXT1 mutatio... |
2,336,956 | Genetic diversity of Plasmodium falciparum histidine-rich protein 2 (PfHRP2) and its effect on the performance of PfHRP2-based rapid diagnostic tests. | Rising costs of antimalarial agents are increasing the demand for accurate diagnosis of malaria. Rapid diagnostic tests (RDTs) offer great potential to improve the diagnosis of malaria, particularly in remote areas. Many RDTs are based on the detection of Plasmodium falciparum histidine-rich protein (PfHRP) 2, but repo... |
2,336,957 | Genetics of cystic fibrosis. | Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein expressed in the apical membrane of exocrine epithelial cells. CFTR functions principally as a cyclic adenosine monophosphate (cAMP)-induced chloride channel and appears capable of regulating o... |
2,336,958 | A review of alpha-1 antitrypsin deficiency. | Alpha-1 antitrypsin (AAT) is a protein that prevents enzymes such as elastin from degrading normal host tissue. Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic anti... |
2,336,959 | Segregation of microsatellite alleles in gynogenetic diploid Pacific abalone (Haliotis discus hannai). | Inheritance of 9 microsatellite loci was examined in 3 families of gynogenetic Pacific abalone Haliotis discus hannai produced by fertilizing eggs with UV-irradiated sperm followed by inhibition of the second meiotic division. The proportion of heterozygous progeny was used to estimate marker-centromere (M-C) distances... |
2,336,960 | Differential gene expression in ovarian tumors reveals Dusp 4 and Serpina 5 as key regulators for benign behavior of serous borderline tumors. | Ovarian serous borderline tumors (SBT) are characterized by arborizing papillae lined by stratified epithelial cells, varying atypia, and absence of stromal invasion. Originally, these tumors have been classified as borderline because they behaved in a remarkably indolent manner, even with widespread tumor deposits cal... |
2,336,961 | Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. | Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.</AbstractText>To present the results of clinical and molecular analysis of 8 patients with dysferlinopathy from 5 unrelated fam... |
2,336,962 | Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. | Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary mo... |
2,336,963 | Tandem repeat copy-number variation in protein-coding regions of human genes. | Tandem repeat variation in protein-coding regions will alter protein length and may introduce frameshifts. Tandem repeat variants are associated with variation in pathogenicity in bacteria and with human disease. We characterized tandem repeat polymorphism in human proteins, using the UniGene database, and tested wheth... |
2,336,964 | Identification of mislabeled specimen by molecular methods: case report and review. | Specimen misidentification is a common cause of errors in surgical pathology. We report a case where bone-marrow biopsies from patients of different genders were mislabeled and molecular methods were applied to resolve the identity. A short tandem repeat (STR)-polymerase chain reaction-based assay, commonly used in pat... |
2,336,965 | Genetic markers for retinitis pigmentosa. | To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis.</AbstractText>Literature search of MEDLINE from 1988 to 2005 using the following key words: 'retinitis pigmentosa', 'rhodopsin', 'RP1', 'RPGR', and 'genetic ... |
2,336,966 | Using progenitor strain information to identify quantitative trait nucleotides in outbred mice. | We have developed a fast and economical strategy for dissecting the genetic architecture of quantitative trait loci at a molecular level. The method uses two pieces of information: mapping data from crosses that involve more than two inbred strains and sequence variants in the progenitor strains within the interval con... |
2,336,967 | Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families. | To confirm alkaptonuria and ochronotic arthropathy diagnosis by mutation screening of the homogentisate 1,2-dioxygenase (HGD) gene. Try to establish a genotype-phenotype correlation in the five subjects with a molecular study on HGD gene.</AbstractText>We report 14 alkaptonuria cases (10 men and four women) in 11 Alger... |
2,336,968 | Risks and benefits of population-based genetic testing for Mendelian subsets of common diseases were examined using the example of colorectal cancer risk. | Genetic testing for adult-onset, common diseases is becoming more commonplace in clinical medicine. We modeled the proportions of hypothetic populations that would potentially benefit or suffer harm from widespread predisposition testing.</AbstractText>Using the traditional two-by-two table from the discipline of epide... |
2,336,969 | A buccal cell model comet assay: development and evaluation for human biomonitoring and nutritional studies. | The comet assay is a widely used biomonitoring tool for DNA damage. The most commonly used cells in human studies are lymphocytes. There is an urgent need to find an alternative target human cell that can be collected from normal subjects with minimal invasion. There are some reports of buccal cells, collected easily f... |
2,336,970 | Tissues from population-based cancer registries: a novel approach to increasing research potential. | Population-based cancer registries, such as those included in the Surveillance, Epidemiology, and End-Results (SEER) Program, offer tremendous research potential beyond traditional surveillance activities. We describe the expansion of SEER registries to gather formalin-fixed, paraffin-embedded tissue from cancer patien... |
2,336,971 | Preimplantation genetic diagnosis for aneuploidy screening in women older than 37 years. | To provide background information about the average aneuploidy and implantation rates of older patients after IVF with preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) when the patients are subdivided into age categories; and to compare pregnancy outcome data after PGD-AS in this group of patients wi... |
2,336,972 | Genome-wide scan for myopia in the Old Order Amish. | To identify myopia susceptibility genes influencing common myopia in 34 Old Order Amish families, a genetically well-defined founder population.</AbstractText>A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia.</AbstractText>Extended families consisting of at lea... |
2,336,973 | Functional reinnervation from remaining DA terminals induced by GDNF lentivirus in a rat model of early Parkinson's disease. | Glial cell-line derived neurotrophic factor (GDNF) is a good candidate agent for restoring functional reinnervation and/or neuroprotection of dopamine (DA) nigrostriatal system and thus for the treatment of Parkinson's disease (PD). Viral delivery is currently the most likely in vivo strategy for delivery of the therap... |
2,336,974 | High follicular phase luteinizing hormone levels in young healthy BRCA1 mutation carriers: implications for breast and ovarian cancer risk. | BRCA1 mutation carriers have up to 80% life-time risk of developing breast cancer and 20-40% risk of developing ovarian cancer. High LH levels have been linked to increased risks of both breast and ovarian cancers in some studies and it is unknown whether gonadotropin levels are associated with BRCA1 mutation status. T... |
2,336,975 | Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. | The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. It is caused by deficiency in the basal lamina of muscle fibers of t... |
2,336,976 | Chemical stress sensitive luminescent human cells: molecular biology approach using inducible Drosophila melanogaster hsp22 promoter. | A whole-cell bioassay has been developed for the total toxicity testing of liquid samples. The method is based on the induction of the bioluminescent activity of genetically manipulated mammalian cells. For that purpose, transfection was used to introduce, in HeLa cells, a DNA sensing element that responds to chemical ... |
2,336,977 | Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Previous uncontrolled studies have suggested that patients with hepatic iron overload have a poor outcome after liver transplantation. We examined the effect of HFE mutations on posttransplantation survival in patients with hepatic iron overload.</Abst... |
2,336,978 | Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Mutations in the mismatch repair genes cause hereditary nonpolyposis colorectal cancer (HNPCC) syndrome and convey high lifetime cancer risks for colorectal (CRC) and endometrial cancer. Currently, cancer risks for individuals with HNPCC are based on d... |
2,336,979 | Diagnosing protan heterozygosity using the Medmont C-100 colour vision test. | A surprisingly high 15 per cent of women in Caucasian societies are carriers of the genes for abnormal colour vision but there is no clinical method to identify them. It has long been known that heterozygotes for the protan colour vision deficiencies can demonstrate a reduced luminous sensitivity to red light. This is ... |
2,336,980 | The use and control of heel prick blood samples. | The human body is assuming new meanings and value. When tissue, such as hair, blood and saliva is subjected to DNA analysis, detailed intimate information can be revealed about a person that may predict information about behavioural traits and future disorders. Such genetic information may lead to the development of be... |
2,336,981 | A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage. | We present a patient with minor dysmorphic features and a mosaic karyotype with two different abnormal cell lines, both involving abnormalities of chromosome 18. Twenty percent of cells studied (4/20) had 46 chromosomes with a large derivative pseudoisodicentric chromosome 18. This chromosome was deleted for 18pter and... |
2,336,982 | No association of serotonin transporter gene (SLC6A4) with schizophrenia and bipolar disorder in Japanese patients: association analysis based on linkage disequilibrium. | Serotonin transporter gene (SLC6A4) is one of the most promising candidate genes for psychiatric disorders such as schizophrenia (SCZ) and bipolar disorder (BP). Two functional polymorphisms, 5HTTLPR and 5HTTVNTR, have been a focus for genetic association analyses; however, no conclusive results have been obtained. We ... |
2,336,983 | Comparison of cryopreservation techniques for long-term storage of ash (Fraxinus excelsior L.). | The main purpose of this study was to develop a cryopreservation protocol for ash and to highlight the importance of testing different clones and plant material of different ontogenetic states. In vitro-grown ash (Fraxinus excelsior L.) shoot tips were successfully cryopreserved following optimization of the PVS2-vitri... |
2,336,984 | Factor XI mutation in a Holstein cow with repeat breeding in Japan. | Factor XI deficiency is an autosomal recessive coagulopathy in Holstein cattle. Affected cows have a tendency to show repeat breeding. Forty repeat breeding Holstein Friesian cows were selected and tested for the Factor XI mutation. Genomic DNA was isolated from the blood of the cows (n=40). Exon 12 of the Factor XI ge... |
2,336,985 | Modern diagnostics of Chlamydia trachomatis infections. | Chlamydia trachomatis (C. trachomatis) is the most common agent of sexually transmitted infections. The clinical spectrum of the disease ranges from urethritis to infertility in women and to trachoma. Intracellular localisation of the pathogen creates a challenge for routine diagnostics. In this review possible diagnos... |
2,336,986 | Model for assessment of proficiency of human immunodeficiency virus type 1 sequencing-based genotypic antiretroviral assays. | Use of sequencing-based genotyping as a diagnostic assay for human immunodeficiency virus (HIV) antiretroviral resistance is increasing. Periodic evaluation of the proficiency of laboratories performing this assay should be established. It is important to identify components of the assay that influence the generation o... |
2,336,987 | Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease. | Lyme disease (LD) is caused by Borrelia burgdorferi and displays different stages, including localized, early disseminated, and persistent infection, all of which are associated with profound inflammatory reactions in the host. Induction of proinflammatory cytokines by B. burgdorferi is mainly mediated by outer surface... |
2,336,988 | Circulating placental RNA in maternal plasma is associated with a preponderance of 5' mRNA fragments: implications for noninvasive prenatal diagnosis and monitoring. | The molecular characteristics of placental RNA circulating in maternal plasma are unknown. We investigated the integrity of circulating placental RNA in maternal plasma and tested the relevance of plasma RNA integrity for noninvasive prenatal diagnosis.</AbstractText>Six different placental transcripts and mRNA of the ... |
2,336,989 | The codon for the methionine at position 129 (M129) in the human prion protein provides an alternative initiation site for translation and renders individuals homozygous for M129 more susceptible to prion disease. | Single amino-acid substitutions in the prion protein have been found to lead to resistance or susceptibility to amyloid fibril formation. In humans, the presence of methionine at position 129 in the prion protein results in increased susceptibility to prion disease, while the presence of valine at that position appears... |
2,336,990 | Fluorescent multiplex PCR--fast method for autosomal dominant spinocerebellar ataxias screening. | Expansion of CAG trinucleotide repeats has been shown to cause a number of autosomal dominant spinocerebellar ataxias such as SCA1, SCA2, SCA3/MJD, SCA6 and SCA7. These disorders are characterized by a wide inter- and intrafamiliar variation in clinical features. The same mutation can result in different phenotypes and... |
2,336,991 | Carotid body paraganglioma and SDHD mutation in a Greek family. | Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes,... |
2,336,992 | [Practical usefulness of the IDENTIFILER system for paternity testing in the Central Poland population]. | The usefulness of the IDENTIFILER multiplex system for paternity testing in the Central Poland population was examined. One hundred excluding cases and one hundred including cases were analysed and the results were estimated for two different types of cases: trios (standard cases) and duos (motherless cases). Efficienc... |
2,336,993 | [Frequency quotient of paternity index Qf in a case of replacement of the natural father within a trio with his brother]. | Cases of trios in which the natural father's near blood-relative instead of the natural father are among the hardest to give an expert opinion on. The goal of this study was to determine with what frequencies specific given values of paternity index appear in trios with the natural father and with the natural father's ... |
2,336,994 | Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? | Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?: We report a Romanian family with a dysmorphic syndrome in three generations: a boy, his mother and maternal grandfather, who all presented with the typical facial appearance, characteristic skeletal and dermatoglyphic findings of Kab... |
2,336,995 | A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. | Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of disorders characterized by shortening of the trunk and limbs. The autosomal dominant SED type Kimberley (SEDK) is associated with premature degenerative arthropathy and has been previously mapped in a multigenerational family to a novel locus on 15... |
2,336,996 | A high-density screen for linkage in multiple sclerosis. | To provide a definitive linkage map for multiple sclerosis, we have genotyped the Illumina BeadArray linkage mapping panel (version 4) in a data set of 730 multiplex families of Northern European descent. After the application of stringent quality thresholds, data from 4,506 markers in 2,692 individuals were included i... |
2,336,997 | Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. | Mutations in the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxia in four patients homozygous for two amino acid changes in POLG: W... |
2,336,998 | Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. | Autism is a common neurodevelopmental disorder with a significant genetic component. Existing research suggests that multiple genes contribute to autism and that epigenetic effects or gene-gene interactions are likely contributors to autism risk. However, these effects have not yet been identified. Gamma-aminobutyric a... |
2,336,999 | An algorithm to construct genetically similar subsets of families with the use of self-reported ethnicity information. | We present a simple algorithm that uses self-reported ethnicity information, pedigree structure, and affection status to group families into genetically more homogeneous subsets. This algorithm should prove useful to researchers who wish to perform genetic analyses on more-homogeneous subsets when they suspect that ign... |
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