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排序方式: 共有96条查询结果,搜索用时 15 毫秒
11.
PD Dr. N. Wolf 《Medizinische Genetik》2007,19(4):414-417
Dental anomalies in children with neuropediatric disorders are easy to diagnose and can be essential in the diagnosis of different entities. They are present in well-known disorders as Incontinentia pigmenti, but also in rare diseases as in Kohlschütter-Tönz syndrome or the recently described ataxia, delayed dentition and hypomyelination. Anomalies of dental shape, enamel and in this case also teeth color, dental number and eruption are all encountered. Knowledge of these abnormalities is important for both clinical geneticist and child neurologist. 相似文献
12.
Because of their high prevalence, cases of coronary artery disease (CAD) and myocardial infarction (MI) are frequently found when asking for a patient’s family history. It is common knowledge that a positive familial history constitutes a risk factor for CAD in its own right, in addition to smoking, increased alcohol intake, diabetes, obesity, hypertension, and hyperlipidemia. Nevertheless, for correct risk assessment it is crucial to accurately distinguish between sporadic and true familial cases of CAD and MI. Familial disposition is present when at least one male first-grade relative under the age of 55 or one female first-grade relative under the age of 65 has/had been diagnosed with myocardial infarction or significant coronary artery disease. In the review presented here, we compile the relevant epidemiological and genetic studies that constitute the scientific basis of this risk assessment. Furthermore, a short overview of the state of the art of genetic CAD/MI research is given. 相似文献
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T. Ripperger B. Schlegelberger PD Dr. rer. nat. D. Steinemann 《Medizinische Genetik》2012,24(1):33-39
Juvenile myelomonocytic leukemia (JMML) is a unique myeloproliferative disorder of early childhood in which mutations in NRAS, KRAS, PTPN11, NF1 and CBL are frequently found. Using high-resolution oligo array-based comparative genomic hybridization (aCGH), 20 JMML samples were investigated for submicroscopic genomic copy number alterations. Besides known cytogenetic aberrations, ten samples displayed additional submicroscopic alterations. Interestingly, an almost identical gain of chromosome 8 was identified in two patients. Subsequently, fluorescence in situ hybridization indicated a constitutional partial trisomy 8 mosaic (cT8M) in both patients. A survey on 27 cT8M patients with reported malignancies showed a predominance of myeloid malignancies including JMML. Our results dramatically reduce the critical region on chromosome 8 to 8p11.21q11.21. To determine how constitutional partial trisomy 8 mosaicisms may contribute to leukemogenesis in different mutational subtypes of JMML and other myeloid malignancies, further investigations are required. 相似文献
15.
PD Dr. Stefan Pelzer 《当今生物学》2012,42(2):98-106
Tailor‐made microorganisms Microbial diversity provides unlimited resources for the development of novel industrial processes and products. Since the beginning of the 20th century microorganisms have been successfully applied for the large scale production of bio‐based products. In recent years, modern methods of strain development and Synthetic Biology have enabled biotech engineers to design even more sophisticated and tailor‐made microorganisms. These microbes serve industrial processes for the production of bulk chemicals, enzymes, polymers, biofuels as well as plant‐derived ingredients such as Artemisinin in an ecologically and economically sustainable and attractive fashion. In the future, production of advanced biofuels, microbial fuel cells, CO2 as feedstock and microbial cellulose are research topics as well as challenges of global importance. Continuous efforts in microbiology and biotechnology research will be pivotal for white biotechnology to gain more momentum in transforming the chemical industry towards a knowledge based bio‐economy. 相似文献
16.
Abraham JE Maranian MJ Spiteri I Russell R Ingle S Luccarini C Earl HM Pharoah PD Dunning AM Caldas C 《BMC medical genomics》2012,5(1):19-6
ABSTRACT: BACKGROUND: The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and acceptable for both patients and clinicians. This study investigated the feasibility of using saliva-extracted DNA in comparison to blood-derived DNA, across two genotyping platforms: Applied Biosystems Taqman TM and Illumina Beadchip TM genome-wide arrays. METHOD: Patients were recruited from the Pharmacogenetics of Breast Cancer Chemotherapy (PGSNPS) study. Paired blood and saliva samples were collected from 79 study participants. The Oragene DNA Self-Collection kit (DNAgenotek(R)) was used to collect and extract DNA from saliva. DNA from EDTA blood samples (median volume 8 ml) was extracted by GenProbe, Livingstone, UK. DNA yields, standard measures of DNA quality, genotype call rates and genotype concordance between paired, duplicated samples were assessed. RESULTS: Total DNA yields were lower from saliva (mean 24 ug, range 0.2-52 ug) than from blood (mean 210 ug, range 58-577 ug) and a 2-fold difference remained after adjusting for the volume of biological material collected. Protein contamination and DNA fragmentation measures were greater in saliva DNA. 78/79 saliva samples yielded sufficient DNA for use on Illumina Beadchip arrays and using Taqman assays. Four samples were randomly selected for genotyping in duplicate on the Illumina Beadchip arrays. All samples were genotyped using Taqman assays. DNA quality, as assessed by genotype call rates and genotype concordance between matched pairs of DNA was high (>97%) for each measure in both blood and saliva-derived DNA. CONCLUSION: We conclude that DNA from saliva and blood samples is comparable when genotyping using either Taqman assays or genome-wide chip arrays. Saliva sampling has the potential to increase participant recruitment within clinical trials, as well as reducing the resources and organisation required for multicentre sample collection. 相似文献
17.
PD Dr. D. Wieczorek 《Medizinische Genetik》2009,21(2):224-230
Clarification of the cause of mental retardation, which has a prevalence of 2–3%, is a common reason for genetic consultation. On the basis of the cardinal sign of microcephaly, which also has a prevalence of 2–3%, an overview on different conditions with developmental delay/mental retardation is given according to the mode of inheritance. The current version of the Winter–Baraitser Dysmorphology Database lists 558 conditions with the combination of microcephaly and developmental delay/mental retardation. This makes clear that the following overview gives only a limited look at the comprehensive field of clinical genetics/dysmorphology. 相似文献
18.
Renate Radek PD Dr. 《当今生物学》2009,39(4):242-248
Three new, membrane‐bounded organelles were detected in the last decade. Acidocalcisomes which occur in pro‐ and eukaryotes are acidic and store calcium, and further also phosphate, oxygen, magnesium, zink, sodium, potassium, and iron. Furthermore, they are engaged in osmoregulation, pH‐ and Ca2+‐homeostasis. Mitosomes are strongly reduced mitochondria of different parasitic protists, which were previously grouped as primarily mitochondria‐free organisms. Apicoplasts are the strongly reduced plastids of the parasitic apicomplexans (formerly sporozoa). They are a target for the development of new drugs, e.g. against the cause of malaria, Plasmodium. 相似文献
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Dipl. Geol. Volker Thiel Dr. Martina Merz-Preiß Prof. Dr. Joachim Reitner PD Dr. Walter Michaelis 《Facies》1997,36(1):163-172
Summary Biomarker investigations are applied to the free lipid fractions of a naturally grown freshwater microbial mat, constructed
by calcifying cyanobacteria (Scytonema sp. andSchizothrix sp.). The absolute and relative concentrations of hydrocarbons, free alcohols and carboxylic acids are studied and their
probable biological precursors are discussed. A significant signal of cyanobacterial lipids is recognized by the strong predominance
ofn-heptadecane (C17),n-heptadecene, two monomethyl-heptadecanes, and the pentacyclic triterpenoid diploptene. Their occurrences parallel the lipid
distributions found in pure cultured cyanobacteria and in recent cyanobacterial mats grown in particular environments (hypersaline,
lagoonal, hot spring). The observed compound signature appears to be a suitable reference for environments, where cyanobacteria
are directly associated with theloci of carbonate precipitation and thus, rock formation. In the studied material, a significant contribution of organic matter
from other sources, especially higher plants is characterized by the occurrence of several specific marker compounds, namely
lup-20(29)-ene-3-ol, high molecular weightn-alkanes and carboxylic acids. Although these components comprise a notably high portion of the sample’s lipid inventory,
they are shown to be distinguished easily from the signal left by the predominant mat building organisms. 相似文献