gebhart/patrepeval huggingface dataset:
Splitting and lumping in the nosology of XLMR (2000)

Although it is assumed that genes that influence cognitive function are ubiquitous in the human genome, to date, more such genes have been found on the X chromosome than on any other comparable segment of the autosomes. This is in large measure because of the power of hemizygosity in exposing mutations of X-linked genes in males. Clinical manifestations, mapping of gene loci by linkage analysis or chromosome rearrangements, and gene identification by positional cloning or mutational analysis of candidate genes have permitted extensive lumping and splitting within the large and heterogeneous category of X-linked mental retardation (XLMR). Approximately 130 XLMR syndromes have been identified, 25 gene loci have been mapped and cloned, and 55 other loci have been mapped but not cloned. Well-recognized syndromes (e.g., Fragile X and Coffin-Lowry syndromes) and syndromes represented by only a single family (e.g., Arena and monoamine oxidase-A syndromes) are among these more or less well-defined entities. In addition, more than 75 families with nonsyndromal XLMR have been regionally mapped and 7 causative genes have been identified.
First Steps toward a Genetic Chemistry (1957)

The development of a genetic chemistry -- a chemistry of the genetic substance -- will undoubtedly be a long and exacting and inspiring task. As genetics is a central theme in the science of biology, so we may expect genetic chemistry to become, in time, an integrating core for cellular biochemistry.
New Methods of Dielectric Measurement in the Centimeter Wave Region II (1954)

In the above, 1) we let the light be projected on the region of the grating which extends from y=0 to y=1, 2) we let the focal-lengths of the lenses placed before and behind the grating be fA and fa respectively, and3) r= 4-1 (or -1), according as 0 is the angle formed with the positive sense (or the negative sense) of the x-axis.From (1), we can derive i) the inclination of the system of spectra as a whole,ii) the change of the distance between two spectra of different orders,
Polypeptide Adsorption on a Synthetic Montmorillonite: A Combined Solid‐State NMR Spectroscopy, X‐ray Diffraction, Thermal Analysis and N<sub>2</sub> Adsorption Study (2003)

Abstract Two homopolypeptides, polylysine and polyglutamic acid, were adsorbed on a synthetic montmorillonite clay, in acidic medium. These organic‐inorganic complexes can be heated up to 110 °C without any degradation of the polypeptide. 1 H‐ 13 C CP‐MAS NMR spectra show that these polypeptides, which exhibit a mixture of α‐helical and random coil conformations in the bulk, tend to unfold and adopt a more extended random coil structure on adsorption on the phyllosilicate. The values of the basal spacing measured by X‐ray diffraction on dehydrated samples clearly indicate that in the presence of adsorbed polypeptide, the silicate layers do not collapse. The incorporation of polypeptide fragments within the interlayer space is also revealed by the decrease in the specific surface areas measured by N 2 ‐adsorption BET experiments. (© Wiley‐VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2003)
Reply to van Vught et al.: P413L <i>CHGB</i> as risk factor for ALS (2010)

Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans the biological, physical, and social sciences.
Impact of segmental chromosomal duplications on leaf size in the <i>grandifolia‐D</i> mutants of <i>Arabidopsis thaliana</i> (2009)

The number of cells in an organ is a major factor that specifies its size. However, the genetic basis of cell number determination is not well understood. To obtain insight into this genetic basis, three grandifolia-D (gra-D) mutants of Arabidopsis thaliana were characterized that developed huge leaves with two to three times more cells than the wild-type. Genetic and microarray analyses showed that a large segmental duplication had occurred in all the gra-D mutants, consisting of the lower part of chromosome 4. In the duplications, genes were found that encode AINTEGUMENTA (ANT), a factor that extends the duration of cell proliferation, and CYCD3;1, a G(1)/S cyclin. The expression levels of both genes increased and the duration of cell proliferation in the leaf primordia was extended in the gra-D mutants. Data obtained by RNAi-mediated knockdown of ANT expression suggested that ANT contributed to the huge-leaf phenotype, but that it was not the sole factor. Introduction of an extra genomic copy of CYCD3;1 into the wild-type partially mimicked the gra-D phenotype. Furthermore, combined elevated expression of ANT and CYCD3;1 enhanced cell proliferation in a cumulative fashion. These results indicate that the duration of cell proliferation in leaves is determined in part by the interaction of ANT and CYCD3;1, and also demonstrate the potential usefulness of duplication mutants in the elucidation of genetic relationships that are difficult to uncover by standard single-gene mutations or gain-of-function analysis. We also discuss the potential effect of chromosomal duplication on evolution of organ size.
On the Metabolism of D-Glucuronic Acid by Pseudomonas ovalis (1958)

From the results obtained by the method of successive adaptation and paper chromatography of reaction mixtures by intact cells, it was presumed that D-glucuronic acid was first converted through D-galacturonic acid to 5-keto-L-galactonic acid and then further oxidized. The accumulation of pyruvic acid was observed in the reaction mixtures under aerobic incubation when the enzyme system was blocked with sodium arsenite. Moreover, α-ketoglutaric acid was also found in the reaction mixtures with D-glucuronic or D-galacturonic acid as a substrate under aerobic incubation. Resting cells of the tested organisms showed the ability to oxidize all members of Krebs' tricarboxylic acid cycle, pyruvic and acetic acids. It is therefore proposed that the oxidation of D-glucuronic acid by Pseudomonas oxaliss assume the following pathway: D-glucuronic acid→D-galacturonic acid→5-keto-L-glactonic acid→unknown→ pyruvic acid→Krebs' tricarboxylic cycle→ CO2+H2O
Toward the Creation of NMR Databases in Chiral Solvents for Assignments of Relative and Absolute Stereochemistry:  NMR Desymmetrization of Meso Compounds (2001)

[structure: see text] Examples of (13)C NMR desymmetrization of meso compounds are presented. On analysis of the NMR profiles of 1,3-diols, the additivity is recognized to predict the NMR profiles of 1,3,5-tirols.
Field measurements of transformer single-phase exciting current as a diagnostic tool, and influence of load tap changers (1994)

The single-phase exciting-current test can be used to detect undesirable conditions in single- and three-phase transformers. Normally the test results are analyzed by comparing currents between all three phases in a given transformer and between similar single-phase units. Certain problems, however, can be detected on the basis of current change when the measurements are performed on different load tap changer positions. Accordingly, understanding how the load tap changer affects the current magnitude of individual phases is essential for developing proper analysis. This paper identifies twelve patterns of test result behavior, and an attempt is made to show different load tap changer designs as they affect the measurement. The test results and test circuit diagrams are given. The derived patterns will be implemented in a DOS-based expert system in combination with a data acquisition system which is currently used in the field by more than 80 utilities.< <ETX xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink">></ETX>
Mehrstufige Polarogramme II (1952)

Abstract I. Die Theorie der Wasserstoffionenverarmung bei der Polarographie von organischen Stoffen in ungenügend gepufferter Lösung wird näher begründet und durch weitere Experimente bestätigt. Die Theorie gestattet, mehrstufige Polarogramme zu berechnen, welche mit den experimentell gefundenen übereinstimmen. Sie gibt in richtiger Weise wieder: 1. die Kurvenform; 2. die Abhängigkeit der Kurvenform vom pH; 3. den Einfluss der Dissoziationskonstanten der vorhandenen Puffersäuren.
Photorefractive two-wave mixing in the presence of high-speed optical phase modulation (1993)

Equations that describe the steady-state dependence of the coherent-coupling properties of photorefractively induced refractive-index gratings on high-speed periodic biphase, sinusoidal, and triangular phase modulation impressed on one of the input optical beams are found and solved for both depleted and undepleted pump conditions. The period of the phase modulation wave form was kept short compared with the grating-formation time but did not cause significant spectral broadening. The results obtained were verified with data obtained from measurements of two-wave mixing in the photorefractive material, InP:Fe.
Non-modulation as an intermediate phenotype in essential hypertension. (1992)

Non-modulation is a trait characterized by abnormal angiotensin-mediated control of aldosterone release and the renal blood supply. To determine whether non-modulation defines a specific subgroup of the hypertensive population and its utility as an intermediate phenotype, we have studied the distribution of this quantitative trait, whether its features are reproducible on repeated testing, and whether there is concordance of its multiple features. Essential hypertensive patients (224) and normotensive subjects (119) received an infusion of angiotensin II (Ang II) at 3 ng.kg-1.min-1 for 30-45 minutes. p-Aminohippurate (PAH) clearance was assessed as an index of renal plasma flow while the subjects were on a 200 meq sodium diet; plasma aldosterone levels were measured while the subjects were on a 10 meq sodium diet. In 54 subjects, diuretic-induced volume depletion superimposed on a low salt diet was substituted for the Ang II infusion. The results of each study were submitted to maximum likelihood analysis to assess bimodality. In response to both diuretic-induced volume depletion (p < 0.000023) and Ang II infusion (p < 0.0009), aldosterone responses were bimodally distributed in the essential hypertensive but not in the normotensive subjects, suggesting that this trait identifies a discrete subgroup. In the 59 subjects who had both an adrenal and renal study, 50 (85%) were concordant. Finally, in 27 subjects studied two to six times over a span of 1-60 months, the intraclass correlations of the adrenal, PAH, or both responses were highly significant (p values between 0.001 and 0.00007), indicating high reproducibility of results on repeated testing.(ABSTRACT TRUNCATED AT 250 WORDS)
Effects of the emulsion refractive index on achromatic grating interferometer applications (1981)

Get PDF Email Share Share with Facebook Tweet This Post on reddit Share with LinkedIn Add to CiteULike Add to Mendeley Add to BibSonomy Get Citation Copy Citation Text Anthony M. Tai and Kim A. Winick, "Effects of the emulsion refractive index on achromatic grating interferometer applications," Appl. Opt. 20, 3478-3480 (1981) Export Citation BibTex Endnote (RIS) HTML Plain Text Citation alert Save article
Endocyclic α,β-Unsaturated Ketones. IV. Reaction of 4,4-Dimethyl-1-keto-1,4-dihydronaphthalene with Cyclohexylmagnesium Bromide (1955)

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTEndocyclic α,β-Unsaturated Ketones. IV. Reaction of 4,4-Dimethyl-1-keto-1,4-dihydronaphthalene with Cyclohexylmagnesium BromideRichard D. Campbell and Norman H. CromwellCite this: J. Am. Chem. Soc. 1955, 77, 19, 5169–5171Publication Date (Print):October 1, 1955Publication History Published online1 May 2002Published inissue 1 October 1955https://pubs.acs.org/doi/10.1021/ja01624a068https://doi.org/10.1021/ja01624a068research-articleACS PublicationsRequest reuse permissionsArticle Views76Altmetric-Citations6LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InRedditEmail Other access optionsGet e-Alertsclose Get e-Alerts
Augmenting the nasal tip using the open approach and sutures (1995)

Journal Article Augmenting the Nasal Tip Using the Open Approach and Sutures Get access John B. Tebbetts, MD John B. Tebbetts, MD Dallas, TX Search for other works by this author on: Oxford Academic PubMed Google Scholar Aesthetic Surgery Journal, Volume 15, Issue 4, December 1995, Page 21, https://doi.org/10.1016/S1090-820X(05)80037-8 Published: 01 December 1995
103 The Development of Atomic Force Microscopy (AFM) Using "van der Pol"-type Self-excitation for the Probe-cantilever : 2^<nd> Report: Experiments Using a Self-actuation-Self-sensing-type Micro-cantilever (2006)

バイオテクノロジーの発展にナノテクノロジーが融合して"ナノバイオテクノロジー"の時代に入った今日、原子間力顕微鏡(AFM)の高性能化の要求は尽きることはない。特に、今後、 DNAやタンパク質をはじめとする生体高分子などのその場(in-situ)観察において、 AFMによる液中観察の機会は急激に増大することが予想される。しかし、柔軟で表面に凹凸の多い生体関連試料をダイナミックモードAFMにてその場(in-situ)観察するには、カンチレバーによって試料表面が損傷しないために50pN以下の接触力を実現せねばならないとされ、理想的には完全なる非接触モードの実現が望まれている。前記課題の達成方法として、著者らは、カンチレバーの振動速度の正帰還による単なる自励発振だけではなく、非線形フィードバック項を付加することによってファンデルポール型自励振動系を用いる手法を提案してきた。(図A1参照)一方、AFMによる生体高分子の高精度液中観察におけるプローブカンチレバーとして、Si製マイクロカンチレバー上にPZT層を成膜し、電極をセンサ部分とアクチュエータ部分に分割した自己駆動・自己検知型が注目されている。と言うのは、従来AFMの光てこ法と異なり、レーザー光の光点合わせが不要、検出部分をコンパクトにまとめられる、アラインメントや加振も直接行えるなどの利点を十全に享受できるためである(図A2参照)。現在までに、自己駆動・自己検知型マイクロカンチレバーを試作、自励発振系の実装、そして発振の実験に成功したので報告する。
Exogenous Runx2 Expression Enhances <i>in Vitro</i> Osteoblastic Differentiation and Mineralization in Primary Bone Marrow Stromal Cells (2004)

Bone marrow stromal cells represent a promising cell source for cell-based therapeutic and bone tissue-engineering applications, but are restricted by a low frequency in healthy marrow, an age-related decrease in osteogenic capacity, and a propensity for dedifferentiation during in vitro expansion. To address these limitations, retroviral gene delivery was used to examine the effects of sustained and elevated expression of the Runx2 osteoblastic transcription factor on osteoblastic gene and protein expression and mineralization in primary rat bone marrow stromal cells. Runx2 overexpression upregulated several osteoblast-specific genes, including collagen type I and osteocalcin, and enhanced alkaline phosphatase activity and biological mineral deposition. Forced Runx2 expression in combination with dexamethasone increased matrix mineralization compared with exogenous Runx2 expression or dexamethasone treatment alone, whereas dexamethasone-free control cultures displayed minimal mineralization. These additive effects suggest complementary interactions between Runx2 and dexamethasone-responsive regulatory factors. Finally, Runx2 overexpression in stromal cell cultures undergoing considerable in vitro expansion resulted in higher matrix mineralization capacity compared with controls, which completely lost the ability to produce mineralized matrix even in the presence of dexamethasone. These findings provide a novel strategy for cell-based therapeutic applications requiring significant numbers of osteogenic cells to synthesize mineralized constructs for the treatment of large bone defects.
Quantifying the Presence of Unwanted Fluorescent Species in the Study of Pyrene-Labeled Macromolecules (2011)

In order to mimic the effect that unwanted fluorescent species have on the process of excimer formation between pyrene labels covalently attached onto macromolecules, the steady-state fluorescence spectra and time-resolved fluorescence decays were acquired for mixtures of pyrene monolabeled and doubly end-labeled 2K poly(ethylene oxide) referred to as Py(1)-PEO(2K) and Py(2)-PEO(2K), respectively, and mixtures of 1-pyrenebutyric acid (PyBA) and a fourth generation dendron end-capped with pyrene (Py(16)-G4-PS). Monolabeled polymers like Py(1)-PEO(2K) and unattached fluorescent labels like PyBA are among the most typical fluorescent impurities that are encountered in the study of fluorescently labeled macromolecules. Our fluorescence experiments revealed that addition of minute amounts of Py(1)-PEO(2K) or PyBA to, respectively, Py(2)-PEO(2K) or Py(16)-G4-PS solutions induced a dramatic reduction of the ratio of the fluorescence intensity of the pyrene excimer to that of the pyrene monomer, namely the I(E)/I(M) ratio. Although the extreme sensitivity of fluorescence in general and the I(E)/I(M) ratio in particular to the presence of fluorescent impurities is a great concern, it is nevertheless reassuring that this effect can be quantitatively accounted for by analyzing the fluorescence decays of the pyrene monomer and excimer globally, according to a protocol which is described in detail in this study. The experiments presented herein demonstrate the importance of studying fluorescently labeled macromolecules that are of the highest purity when probing the rapid internal dynamics of a macromolecule by fluorescence.
Crystal Structure of Heparinase II from Pedobacter heparinus and Its Complex with a Disaccharide Product (2006)

Heparinase II depolymerizes heparin and heparan sulfate glycosaminoglycans, yielding unsaturated oligosaccharide products through an elimination degradation mechanism. This enzyme cleaves the oligosaccharide chain on the nonreducing end of either glucuronic or iduronic acid, sharing this characteristic with a chondroitin ABC lyase. We have determined the first structure of a heparin-degrading lyase, that of heparinase II from Pedobacter heparinus (formerly Flavobacterium heparinum), in a ligand-free state at 2.15 A resolution and in complex with a disaccharide product of heparin degradation at 2.30 A resolution. The protein is composed of three domains: an N-terminal alpha-helical domain, a central two-layered beta-sheet domain, and a C-terminal domain forming a two-layered beta-sheet. Heparinase II shows overall structural similarities to the polysaccharide lyase family 8 (PL8) enzymes chondroitin AC lyase and hyaluronate lyase. In contrast to PL8 enzymes, however, heparinase II forms stable dimers, with the two active sites formed independently within each monomer. The structure of the N-terminal domain of heparinase II is also similar to that of alginate lyases from the PL5 family. A Zn2+ ion is bound within the central domain and plays an essential structural role in the stabilization of a loop forming one wall of the substrate-binding site. The disaccharide binds in a long, deep canyon formed at the top of the N-terminal domain and by loops extending from the central domain. Based on structural comparison with the lyases from the PL5 and PL8 families having bound substrates or products, the disaccharide found in heparinase II occupies the "+1" and "+2" subsites. The structure of the enzyme-product complex, combined with data from previously characterized mutations, allows us to propose a putative chemical mechanism of heparin and heparan-sulfate degradation.
Influence of precursors of Li2O and MgO on surface and catalytic properties of Li-promoted MgO in oxidative coupling of methane (2000)

The influence of the catalyst precursors (for Li2O and MgO) used in the preparation of Li-doped MgO (Li/Mg = 0.1) on its surface properties (viz basicity, CO2 content and surface area) and activity/selectivity in the oxidative coupling of methane (OCM) process at 650–750 °C (CH4/O2 feed ratio = 3.0–8.0 and space velocity = 5140–20550 cm3 g−1 h−1) has been investigated. The surface and catalytic properties are found to be strongly affected by the precursor for Li2O (viz lithium nitrate, lithium ethanoate and lithium carbonate) and MgO (viz magnesium nitrate, magnesium hydroxide prepared by different methods, magnesium carbonate, magnesium oxide and magnesium ethanoate). Among the Li–MgO (Li/MgO = 0.1) catalysts, the Li–MgO catalyst prepared using lithium carbonate and magnesium hydroxide (prepared by the precipitation from magnesium sulfate by ammonia solution) and lithium ethanoate and magnesium acetate shows high surface area and basicity, respectively. The catalysts prepared using lithium ethanoate and magnesium ethanoate, and lithium nitrate and magnesium nitrate have very high and almost no CO2 contents, respectively. The catalysts prepared using lithium ethanoate or carbonate as precursor for Li2O, and magnesium carbonate or ethanoate, as precursor for MgO, showed a good and comparable performance in the OCM process. The performance of the other catalysts was inferior. No direct relationship between the basicity of Li-doped MgO or surface area and its catalytic activity/selectivity in the OCM process was, however, observed. © 2000 Society of Chemical Industry
Faecal bacterial molecular profiles of Crohn’s disease patients differ from their healthy relatives and matched healthy controls. (2007)

peer reviewed
Evidence for a Spatial and Temporal Regulation of Prostaglandin-Endoperoxide Synthase 2 Expression in Human Amnion in Term and Preterm Parturition (2010)

PTGS2 expression in the amnion shows a distinct spatial and temporal regulation. Spontaneous labor at term and pathological preterm labor clearly differ in amniotic PTGS2 and PGE(2) abundance. Our observations underscore the biological significance of the amnion and amniotic fluid in human parturition.
Processing of rat liver apoprotein E primary translation product. (1984)

The primary translation product of rat liver apoE mRNA was isolated from wheat germ cell-free translation systems. Plasma apoE and the primary translation product migrated similarly on SDS-polyacrylamide gels, had similar partial proteolytic peptide maps, and bound to and coeluted from heparin-Sepharose columns. Comparison of the partial amino acid sequence of the primary translation product with the amino-terminal sequence of plasma apoE indicated that rat apoE is initially synthesized with an 18 amino acid amino-terminal extension. This entire segment was removed cotranslationally by canine microsomes possessing signal peptidase activity. The microsome-processed translation product did not contain an endoglycosidase H-sensitive oligosaccharide, suggesting that rat apoE is O-glycosylated.
Cyclic Peptides Bearing a Side‐Chain Tail: A Tool to Model the Structure and Reactivity of Protein Zinc Sites (2008)

Ein fast perfektes Modell: Kurze Peptide mit cyclischen und linearen Komponenten konnten so entworfen werden, dass sie die Struktur und Reaktivität von Tetracysteinatzinkzentren in Proteinen nachahmen, wie die Überlagerung des Zn(Cys)4-Zentrums von Hsp33 (blau) mit seinem 20-Aminosäuren-Modell (grün) illustriert.