bluuebunny/crossref_metadata_2025_split huggingface dataset:
Longitudinal evolution of unidentified bright objects in children with neurofibromatosis‐1
Authors: Kraut Michael A. , Gerring Joan P. , Cooper Karen L. , Thompson Richard E. , Denckla Martha B. , Kaufmann Walter E. 
Published: June 2004

AbstractNeurofibromatosis type‐1 (NF‐1) is the most common autosomal dominant disorder affecting the central nervous system. Magnetic resonance imaging (MRI) has revealed distinctive T2‐weighted hyperintense foci (termed unidentified bright objects, UBOs) which appear to represent spongiform changes in the white matter. Cross‐sectional and longitudinal analyses suggest that UBOs disappear over time; however, none of these studies have examined comprehensively these foci. We conducted a quantitative MRI longitudinal study of number of affected regions, number of UBOs per region, and UBO volume per region, in a sample of 12 children with NF‐1. We applied semi‐automatic morphometric methods and comprehensive statistical approaches, within a detailed anatomical parcellation framework. Our data demonstrate that, despite a similar UBO regional distribution (e.g., prevalent globus pallidus/internal capsule (GP/IC) location), UBO evolution was more complex than previously reported. In some subjects, the total number of UBO‐occupied locations demonstrated a decrease between approximately ages 7 and 12 years, followed by a progressive increase during adolescence. This pattern was also found for UBO number and/or volume for all regions, with the exception of the cerebellar hemispheres. This REGIONAL distinction may reflect differences in white matter structure between affected long tract fiber bundles and that of cerebral and cerebellar myelinated fibers. The findings are also discussed in the context of previous MR and behavioral studies. We conclude that studies like the present one, in association with other MR modalities, are necessary to characterize more completely the nature and evolution of UBOs and their role in the cognitive phenotype of NF‐1. © 2004 Wiley‐Liss, Inc.
Inheritance of most X‐linked traits is not dominant or recessive, just X‐linked
Authors: Dobyns William B. , Filauro Allison , Tomson Brett N. , Chan April S. , Ho Allen W. , Ting Nicholas T. , Oosterwijk Jan C. , Ober Carole 
Published: June 2004

AbstractThe existence of X‐linked disorders in humans has been recognized for many centuries, based on lessons in religious texts and observations of specific human families (e.g., color blindness or Daltonism). Our modern concepts of Mendelian (including X‐linked) inheritance originated just after the turn of the last century. Early concepts of dominance and recessiveness were first used in conjunction with autosomal traits, and then applied to “sex”‐linked traits to distinguish X‐linked recessive and X‐linked dominant inheritance. The former was defined as vertical transmission in which carrier women pass the disorder to affected sons, while the latter was defined as vertical transmission in which daughters of affected males are always affected, transmitting the disorder to offspring of both sexes. However, many X‐linked disorders such as adrenoleukodystrophy, fragile X syndrome, and ornithine transcarbamylase deficiency do not fit these rules. We reviewed the literature on 32 X‐linked disorders and recorded information on penetrance and expressivity in both sexes. As expected, penetrance and an index of severity of the phenotype (defined in our Methods) were both high in males, while the severity index was low in females. Contrary to standard presentations of X‐linked inheritance, penetrance was highly variable in females. Our analysis classified penetrance as high in 28% of the disorders studied, intermediate in 31%, and low in 40%. The high proportion of X‐linked disorders with intermediate penetrance is difficult to reconcile with standard definitions of X‐linked recessive and dominant inheritance. They do not capture the extraordinarily variable expressivity of X‐linked disorders or take into account the multiple mechanisms that can result in disease expression in females, which include cell autonomous expression, skewed X‐inactivation, clonal expansion, and somatic mosaicism. We recommend that use of the terms X‐linked recessive and dominant be discontinued, and that all such disorders be simply described as following “X‐linked” inheritance. © 2004 Wiley‐Liss, Inc.
Mitotic and meiotic instability of a telomere association involving the Y chromosome
Authors: Huang Bing , Martin Christa Lese , Sandlin Constance J. , Wang Shengbiao , Ledbetter David H. 
Published: June 2004

AbstractConstitutional telomere associations and jumping translocations (JTs) are rare events and usually occur post‐zygotically. We report a telomere association involving the Y chromosome which “jumped” during meiosis. A 21‐year‐old woman was referred for amniocentesis due to non‐immune hydrops seen in a previous pregnancy. Cytogenetic analysis of the amniocytes showed a 45,X,tas(Y;15)[4]/45,X[16] karyotype with the long arm of the Y chromosome attached to the end of the short arm of chromosome 15. Parental chromosome analyzes revealed a tas(Y;19)[63]/45,X[7] karyotype in the father with Yq attached to the end of the short arm of chromosome 19. A phenotypically normal male was born and blood chromosome analysis confirmed a 45,X,tas(Y;15)[39]/45,X[10]/46,XY[1] karyotype. Two other male children have 46,XY karyotypes, which further demonstrates the instability of the tas(Y;19) in meiosis. Fluorescence in situ hybridization (FISH) analysis with probes for theY‐centromere, the Yqh region, the shared Xq/Yq telomere and SRY showed hybridization on the tas(Y;19) and tas(Y;15). A chromosome 19p specific subtelomeric probe showed hybridization to the tas(Y;19) in the father. In addition, a probe for the simple telomeric sequences TTAGGG showed positive hybridization to the junction of the associations. The presence of TTAGGG telomere repeats and unique telomere sequences indicate that the Y;15 and Y;19 associations occur with no detectable loss of any sequences. The interstitial telomere sequences at the junction of the telomere association may explain the mitotic and meiotic instability of the association. © 2004 Wiley‐Liss, Inc.
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: First report of a Mexican patient and genotype–phenotype correlation
Authors: Macías‐Gómez Nelly Margarita , Mégarbané André , Leal‐Ugarte Evelia , Rodríguez‐Rojas Lisa Ximena , Barros‐Núñez Patricio 
Published: June 2004

AbstractThe osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2). This group of osteochondrodysplasias shows a continuous spectrum of clinical variability and shares many features in common. Usually, it is difficult to distinguish clinically among these patients. To date, several efforts have been made to correlate mutations in the SLC26A2 gene with phenotypic severity in the patients. We report on a Mexican girl with diastrophic dysplasia presenting some unusual clinical and radiographic features that are usually observed in atelosteogenesis type II. Molecular analysis of the SLC26A2 gene in this patient showed compound heterozygosity for the R178X and R279W mutations. In this patient, the combination of a mild and a severe mutation has apparently led to an intermediate or transitional clinical picture, showing an apparent genotype–phenotype correlation. © 2004 Wiley‐Liss, Inc.
Further delineation of the odonto–onycho–dermal dysplasia syndrome
Authors: Mégarbané Hala , Haddad May , Delague Valérie , Renoux Julien , Boehm Nelly , Mégarbané André 
Published: June 2004

AbstractWe report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto–onycho–dermal dysplasia but with some differing features. © 2004 Wiley‐Liss, Inc.
Spondyloperipheral dysplasia is caused by truncating mutations in the C‐propeptide of COL2A1
Authors: Zankl Andreas , Zabel Bernhard , Hilbert Katja , Wildhardt Gabi , Cuenot Segoleine , Xavier Belinda , Ha‐Vinh Russia , Bonafé Luisa , Spranger Jürgen , Superti‐Furga Andrea 
Published: June 2004

AbstractThe term “spondyloperipheral dysplasia” (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as observed in a small number of individuals. The reported cases show wide clinical variability and the nosologic status and spectrum of this condition are still ill defined. Zabel et al. [1996: Am J Med Genet 63(1):123–128] reported an individual with short stature and SPD who was heterozygous for a frameshift mutation in the C‐propeptide domain of COL2A1. To explain the additional finding of brachydactyly that is not an usual feature of the type II collagenopathies, it was postulated that the nature of the mutation induced precocious calcification and premature fusion of metacarpal and phalangeal growth plates. The C‐propeptide of collagen II had previously been found to promote calcification (“chondrocalcin”). We have ascertained two further individuals with clinical and radiological findings of a type II collagenopathy in infancy who developed brachydactyly type E like changes of fingers and toes in childhood. In both individuals, heterozygosity for novel, distinct mutations in the C‐propeptide coding region of COL2A1 were found. Although all three mutations (the one previously reported and the two novel ones) predict premature termination, their location close to the 3′‐end of the mRNA probably protects them from nonsense‐mediated decay and allows for synthesis of mutant procollagen chains. However, loss of crucial cysteine residues or other sequences essential for trimerization prevents these chains from associating and participating in procollagen helix formation, and thus leads to accumulation in the ER‐consistent with EM findings. The mechanism leading to precocious fusion of phalangeal epiphyses remains to be explored. The consistency of clinical, radiographic, and molecular findings in these three unrelated individuals confirms SPD as a distinct nosologic entity. The diagnosis of SPD is suggested by the appearance of brachydactyly in a child who has clinical and radiographic features of a collagen II disorder. © 2004 Wiley‐Liss, Inc.
Duplication 4p and deletion 4p (Wolf–Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
Authors: Takeno S.S. , Corbani M. , Andrade J.A.D. , Smith M. de A.C. , Brunoni D. , Melaragno M.I. 
Published: June 2004

AbstractWe present clinical and cytogenetic data on a family with a t(4;13)(p16;q11) translocation present in four generations. The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter. © 2004 Wiley‐Liss, Inc.
Synthesis and Antimicrobial Activity of New 2‐[p‐Substituted‐benzyl]‐5‐[substituted‐carbonylamino]benzoxazoles
Authors: Yildiz‐Oren Ilkay , Tekiner‐Gulbas Betul , Yalcin Ismail , Temiz‐Arpaci Ozlem , Akı‐Sener Esin , Altanlar Nurten 
Published: June 2004

AbstractA series of 23 new 2‐[p‐substituted‐benzyl]‐5‐[p‐substituted‐phenyl/benzyl‐carbonylamino]benzoxazole derivatives has been synthesized by reacting 5‐amino‐2‐[p‐substituted‐benzyl]benzoxazoles with the appropriate carboxylic acid chlorides. The structures of the synthesized compounds were confirmed by IR and 1H‐NMR spectral data. Antimicrobial activities of the compounds were investigated using the twofold serial dilution technique against two gram‐positive and two gram‐negative bacteria and three Candida species in comparison with standard drugs. Microbiological results indicated that the newly synthesized 2‐[p‐substituted‐benzyl]‐5‐[p‐substituted‐phenyl/benzyl‐carbonylamino]benzoxazole derivatives (3‐25) possessed a broad spectrum of activity, showing MIC values of 6.25‐200 μg/mL against the gram‐positive and gram‐negative microorganisms tested. Moreover, they showed significant antifungal activity with MIC values of 3.12‐100 μg/mL against the Candida species tested. Especially, with a MIC value of 3.12 μg/mL, 2‐benzyl‐5‐[p‐bromobenzyl‐carbonylamino]benzoxazole 9 displayed the same activity against C. glabrata as the standard drug myconazol.
Synthesis and Evaluation of a Dimer of 2‐(4‐Pyridylmethyl)‐1‐Indanone as a Novel Nonsteroidal Aromatase Inhibitor
Authors: Gupta Ranju , Jindal Dharam Paul , Jit Birinder , Narang Gaurav , Palusczak Anja , Hartmann Rolf W. 
Published: June 2004

AbstractA novel dimer of 2‐(4‐pyridylmethyl)‐1‐indanone (2) was obtained while carrying out aldol condensation of 1‐indanone with pyridine‐4‐carboxaldehyde in potas sium hydroxide. The structure of dimer 3 has been established using various spectral techniques and was screened for its ability to inhibit the cytochrome P450 enzyme aromatase. The dimer showed strong inhibition of human placental aromatase and was found 3 times more potent (RP = 3, IC50 = 10.2 μM) as compared to aminoglutethimide (RP = 1, IC50 = 18.5 μM
Synthesis of Amidinohydrazones and Evaluation of Their Inhibitory Effect towards Aldosterone Synthase (CYP11B2) and the Formation of Selected Steroids
Authors: Voets Marieke , Müller‐Vieira Ursula , Marchais‐Oberwinkler Sandrine , Hartmann Rolf W. 
Published: June 2004

AbstractThe synthesis and biological evaluation of a series of amidinohydrazones (3a‐h, 6a‐c, 8 and 9) as potential nonsteroidal inhibitors of aldosterone synthase (CYP11B2) are described. The compounds were tested in vitro using CYP11B2‐expressing fission yeast; they showed only marginal inhibitory effect. Compound 6c was evaluated for its effect on the formation of aldosterone, cortisol, androstenedione, and DHEA in the adrenocortical tumor cell line NCI‐H295R. It exhibited no significant effect on the production of these products.
In vivo hyperglycemia and its effect on Glut‐1 expression in the embryonic heart
Authors: Joyner Nia T. , Smoak Ida W. 
Published: June 2004

AbstractBACKGROUNDMaternal diabetes exposes embryos to periods of hyperglycemia. Glucose is important for normal cardiogenesis, and Glut‐1 is the predominant glucose transporter in the embryo.METHODSPregnant mice were exposed to 6 or 12 hr hyperglycemia during organogenesis using intraperitoneal (IP) injections of D‐glucose on gestational day (GD) 9.5 (plug = GD 0.5). Embryos were examined for morphology and total cardiac protein, and embryonic hearts were evaluated for Glut‐1 protein and mRNA expression immediately after treatment (GD 9.75, GD 10.0), as well as on GD 10.5 and GD 12.5.RESULTSIP glucose injections were effective in producing sustained maternal hyperglycemia. Maternal hyperglycemia for 6 or 12 hr on GD 9.5, followed by normoglycemia, produced a decrease in overall size and total cardiac protein in embryos evaluated on GD 10.5 but no difference on GD 12.5. Cardiac Glut‐1 expression was immediately upregulated in embryos exposed to 6 or 12 hr maternal hyperglycemia. On GD 10.5, cardiac Glut‐1 expression was not different in embryos exposed to maternal hyperglycemia for 6 hr but was downregulated in embryos exposed for 12 hr. On GD 12.5, cardiac Glut‐1 expression in embryos exposed to maternal hyperglycemia on GD 9.5 for 6 or 12 hr, followed by normoglycemia, was not different from controls. The temporal pattern was the same for Glut‐1 protein and mRNA expression.CONCLUSIONSHyperglycemia‐induced alterations in Glut‐1 expression likely interfere with balance of glucose available to the embryonic heart that may affect cardiac morphogenesis. Birth Defects Research (Part A), 2004. © 2004 Wiley‐Liss, Inc.
Calmodulin/calmodulin‐dependent protein kinase II mediates SAAF‐induced motility activation of ascidian sperm
Authors: Nomura Mamoru , Yoshida Manabu , Morisawa Masaaki 
Published: June 2004

AbstractCa2+‐influx and membrane hyperpolarization by sperm‐activating and ‐attracting factor (SAAF) released from the unfertilized egg of the ascidians Ciona cause a transient increase in cAMP, which triggers activation of sperm motility. We demonstrated here the presence of Ca2+‐binding protein, calmodulin (CaM), and CaM‐dependent kinase II (CaMKII) in the sperm. CaM antagonist, W‐7, and CaMKII inhibitor, KN‐93, suppressed SAAF‐induced membrane hyperpolarization, increase in cAMP, and activation of sperm motility, but inactive analogues of W‐7 and KN‐93, namely W‐5 and KN‐92, respectively, did not. Subsequent addition of K+ ionophore, valinomycin, hyperpolarized the plasma membrane, increased cAMP, and conferred motility to the immotile sperm even in the presence of W‐7 and KN‐93. Addition of IBMX activated motility of sperm, which has been immobilized by W‐7 and KN‐93. These suggest that increased [Ca2+]i through influx of Ca2+ by SAAF binds to CaM to activate CaMKII. The activated CaMKII may cause membrane hyperpolarization to increase cAMP, which triggers the activation of sperm motility in Ciona. Cell Motil. Cytoskeleton 59:28–37, 2004. © 2004 Wiley‐Liss, Inc.
Random Deposition as a Growth Mode in Atomic Layer Deposition
Authors: Puurunen R.L. 
Published: June 2004

AbstractDespite the increasing number of successful applications of material growth by atomic layer deposition (ALD), the description of many physicochemical processes that occur during ALD growth is still incomplete. The way the material is arranged on the surface during ALD growth, called the ALD growth mode, defines important material properties, such as when the substrate gets fully covered by the ALD‐grown material, and the surface roughness. This work initiates the theoretical description of ALD growth modes by describing the random deposition growth mode, both qualitatively and quantitatively, by using the growth per cycle as a statistical quantity.
MOCVD of LaAlO3 Films from a Molten Precursor Mixture: Characterization of Liquid, Gas, and Deposited Phases
Authors: Malandrino G. , Condorelli G.G. , Lo Nigro R. 
Published: June 2004

AbstractThe capability of “second‐generation” precursors to act as a solvent of other precursor species, thus yielding a molten multi‐component source, has been investigated in detail. In particular, this novel approach has been applied to the MOCVD process of high quality, epitaxial LaAlO3 thin films on SrTiO3 (100) substrates. The adopted in‐situ strategy involves a molten mixture consisting of the La(hfa)3 • diglyme (Hhfa = 1,1,1,5,5,5‐hexafluoro‐2,4‐pentanedione, diglyme = bis(2‐methoxyethyl)ether) precursor which acts as a solvent for the Al(acac)3 (Hacac = acetylacetone). Thermal analyses and “in situ” Fourier transform infrared (FTIR) spectra of the gas phase proved that the molten multi‐component source possesses suitable stability during vaporization and mass transport processes. The LaAlO3 films have smooth surfaces and are epitaxially grown.
Atomic Layer Deposition of Photocatalytic TiO2 Thin Films from Titanium Tetramethoxide and Water
Authors: Pore V. , Rahtu A. , Leskelä M. , Ritala M. , Sajavaara T. , Keinonen J. 
Published: June 2004

AbstractTitanium dioxide thin films were grown by atomic layer deposition (ALD) at 200–400 °C from a new titanium precursor, titanium tetramethoxide, and water. As compared with other titanium alkoxides studied earlier, titanium methoxide shows the highest stability with respect to thermal decomposition, and can thus be used over the widest range of temperatures. The films deposited at 250 °C and above were polycrystalline with the anatase structure, whereas those deposited at 200 °C were amorphous. Except for the film deposited at 200 °C, the films contained only minor amounts of carbon and hydrogen residues. The crystalline films were shown to have photocatalytic activity in decomposing both methylene blue in aqueous solution, and solid stearic acid coated on the film surface.
Multiplexed, particle‐based detection of DNA using flow cytometry with 3DNA dendrimers for signal amplification
Authors: Lowe Mary , Spiro Alex , Zhang Yu‐Zhong , Getts Robert 
Published: June 2004

AbstractBackgroundComplex mixtures of DNA may be found in environmental and medical samples. There is a need for techniques that can measure low concentrations of target DNAs. For a multiplexed, flow cytometric assay, we show that the signal‐to‐noise ratio for fluorescence detection may be increased with the use of 3DNA dendrimers. A single fluorescent DNA molecule per bead could be detected with conventional flow cytometry instrumentation.MethodsThe analyte consisted of single‐stranded (ss) DNA amplicons that were hybridized to capture probes on the surface of fluorescent polystyrene microspheres (beads) and initially labeled with streptavidin‐R‐phycoerythrin (single‐step labeling). These beads have a low reporter fluorescence background and high efficiency of DNA hybridization. The DNA/SA‐RPE complex was then labeled with 3DNA dendrimers and SA‐RPE. The bead complexes were detected with a Luminex 100 flow cytometer. Bead standards were developed to convert the intensity to the number of SA‐RPE labels per bead and the number of dendrimers per bead.ResultsThe dendrimer assay resulted in 10‐fold fluorescence amplification compared with single‐step SA‐RPE labeling. Based on concentration curves of pure target ss‐amplicons, the signal‐to‐noise ratio of the dendrimer assay was greater by a factor of 8.5 over single‐step SA‐RPE labeling. The dendrimer assay was tested on 16S ribosomal DNA amplified from filter retentates of contaminated groundwater. Multiplexed detection of a single dendrimer‐labeled DNA molecule per bead was demonstrated.ConclusionsMultiplexed detection of DNA hybridization on a single molecule level per bead was achieved with conventional flow cytometry instrumentation. This assay is useful for detecting target DNAs at low concentrations. © 2004 Wiley‐Liss, Inc.