bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pure partial trisomy 7q: Two new patients and review
Authors: Rodríguez Laura , López Fermina , Paisán Luis , de la Red Maria del Mar Portugués , Ruiz Angeles Maria , Blanco Manuel , Antelo Cortizas Jesús , Martínez‐Frías María Luisa 
Published: October 2002

AbstractWe report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension. Patient 2 was a male who showed microretrognathia, cleft palate, micropenis, camptodactyly, and clynodactyly. High‐resolution G‐bands (550–850) karyotype showed that patient 1 had an extra chromosome, which resulted from the adjacent 3:1 segregation from a maternal balanced reciprocal translocation, and patient 2 had an abnormaly Y chromosome. Fluorescent in Situ Hybridization (FISH) analysis with a whole chromosome painting confirmed in the first patient that the extra chromosome was from chromosome 7, and in patient 2 the abnormal Y chromosome had extra material of chromosome 7 origin. Three different clinical entities have been described as the product of the partial trisomy of three different 7q regions, although some authors have found no karyotype‐phenotype correlations. Of the patients presented here, patient 1 had trisomy of those three regions, and patient 2 had trisomy of two of those regions. © 2002 Wiley‐Liss, Inc.
Simvastatin treatment in the SLO syndrome: A safe approach?
Authors: Starck Lena , Lövgren‐Sandblom Anita , Björkhem Ingemar 
Published: October 2002

AbstractSoon after the discovery of reduced cholesterol synthesis in the Smith‐Lemli‐Opitz syndrome (SLOS), several trials with dietary supplementation were initiated with the aim of increasing cholesterol and reducing the de novo synthesis and accumulation of 7‐ and 8‐dehydrocholesterol (DHC). Dietary cholesterol raises cholesterol levels in the circulation with only marginal effects on levels of DHC. Photosensitivity and polyneuropathy have been reported to be improved by the treatment, but other effects have been difficult to evaluate. In order to see whether inhibition of hydroxymethylglutaryl CoA reductase is of benefit, two of our patients have been treated with simvastatin in addition to the long‐term treatment with cholesterol and bile acids. Absolute as well as relative levels of DHC were reduced. In one patient, creatine kinase increased moderately after 2 months of treatment. In the other patient, the treatment had to be interrupted because of hepatotoxic side effects with a marked increase in alanine aminotransferase and aggravation of the hypocholesterolemia and photosensitivity. We conclude that even if the levels of accumulated intermediates can be reduced, treatment with a statin may be harmful in some patients with SLOS. © 2002 Wiley‐Liss, Inc.
Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications
Authors: Antonini Sylvie , Kim Chong A. , Sugayama Sofia M. , Vianna‐Morgante Angela M. 
Published: October 2002

AbstractTwo chromosome 3 short arm duplications identified through G‐banding were further investigated using fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) of microsatellite markers, aiming at mapping breakpoints and disclosing mechanisms of origin of these chromosome aberrations. Patient 1 was found to be a mosaic: a 3p12 → 3p21 duplication was observed in most of his cells, and a normal cell line occurred with a frequency of about 3% in blood. In situ hybridization of chromosome 3 short‐ and long‐arm libraries confirmed the short‐arm duplication. Using FISH of short‐arm sequences, the YAC 961_h_3 was shown to contain the proximal breakpoint (3p12.1 or 3p12.2), and the distal breakpoint was located between the YACs 729_c_3 and 806_h_2, which are adjacent in the WC 3.10 contig (3p21.1). In Patient 2, G‐banding indicated a 3p21 → 3p24 duplication, without mosaicism. In situ hybridization of chromosome 3 short‐ and long‐arm libraries confirmed the duplication of short‐arm sequences. FISH of chromosome 3 sequences showed that the YAC 749_a_7 spanned the proximal breakpoint (3p21.33). The distal breakpoint mapped to the interval between YACs 932_b_6 (3p24.3) and 909_b_6 (3p25). In both cases, microsatellite genotyping pointed to a rearrangement between paternal sister chromatids. © 2002 Wiley‐Liss, Inc.
Gender differences in psychosocial reactions to cystic fibrosis carrier testing
Authors: Newman Jamie E. , Sorenson James R. , DeVellis Brenda M. , Cheuvront Brian 
Published: October 2002

AbstractGender differences involving genetic testing have become a topic of research as feminist critiques assert that women may be affected differently, and possibly more significantly, than men by genetic carrier testing information. It is possible that men and women differ in their reactions to learning whether they are or are not a carrier of a specific mutation. It is also possible that men and women may differ in their reactions to different methods of genetic testing. Data on gender differences in reactions to cystic fibrosis (CF) carrier testing in a high‐risk population and to gender differences in reactions to home‐based as opposed to clinic‐based testing are reported. This analysis suggests that at least for CF carrier testing, men and women do differ in terms of their risk perceptions, negative psychological affect, perceptions about themselves, and the convenience of testing. However, there was only one difference between men's and women's reactions to the method of testing. A better understanding of gender differences in response to carrier testing, as well as to interactions between gender and methods of genetic testing, may inform better approaches to carrier testing and to considering alternative methods of such testing.
Limitations of stratifying sib‐pair data in common disease linkage studies: An example using chromosome 10p14‐10q11 in type 1 diabetes
Authors: Johnson Gillian C.L. , Koeleman Bobby P.C. , Todd John A. 
Published: October 2002

AbstractIDDM10 on chromosome 10p11‐q11 has been identified as a putative diabetes susceptibility locus through affected sib‐pair (ASP) linkage analysis in UK nuclear families [Davies et al., 1994: Nature 371:130–136; Reed et al., 1997: Hum Mol Genet 6:1011–1016; Mein et al., 1998: Nat Genet 19:297–300]. We extended analysis of linkage to type 1 diabetes in this region by typing a total of 61 markers in a maximum of 418 UK sib‐pairs (UK418; peak MLS = 3.84). We then stratified the dataset based on analyses performed previously by both our group [Mein et al., 1998: Nat Genet 19:297–300] and others [Paterson et al., 1999: Hum Hered 49:197–204; Paterson and Petronis, 1999a: Am J Med Genet 84:15–19; Paterson and Petronis, 2000a: J Med Genet 37:186–191; Paterson and Petronis, b: Eur J Hum Genet 8:145–148] and used a permutation procedure to assess the significance of the results. We conclude that the results obtained had a high probability of occurring by chance alone. These data highlight the limitations of stratifying small datasets (n < 500) by additional criteria and the recurrent problems of multiple testing in genetic analysis. © 2002 Wiley‐Liss, Inc.
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation
Authors: Ramadevi A. Radha , Naik Usha , Dutta Usha , Srikanth  , Prabhakara K. 
Published: October 2002

AbstractAn 8‐year‐old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes. Chromosomal analysis of parents revealed de novo inheritance of this inversion. This is the first report of pericentric inversion associated with piebald trait. © 2002 Wiley‐Liss, Inc.
Mutational analysis of the RNX gene in congenital central hypoventilation syndrome
Authors: Matera Ivana , Bachetti Tiziana , Cinti Roberta , Lerone Margherita , Gagliardi Luigi , Morandi Francesco , Motta Mario , Mosca Fabio , Ottonello Giancarlo , Piumelli Raffaele , Schober Johannes G. , Ravazzolo Roberto , Ceccherini Isabella 
Published: October 2002

AbstractCongenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by failure of autonomic respiratory control, often presenting with other dysfunctions of the autonomic nervous system. Segregation analysis suggested a complex model of inheritance with a major locus involved. Disruption of the Rnx gene, a member of the Hox11 family of homeobox genes, in embryonic stem cells produced mice showing a phenotype similar to CCHS. Based on this observation, we have carried out mutation screening of the RNX gene in a set of 13 patients affected with CCHS, 2 of whom showing association with Hirschsprung disease. Single‐strand conformational polymorphism analysis and direct sequencing of the whole coding portion of the RNX gene and of 1,311 bp of 5′ flanking region were performed. No sequence variant was identified, with the exception of a private nucleotide change at position −874 bp from the ATG codon in two siblings affected with isolated CCHS. A functional test, performed by using the luciferase gene reporter system, has not shown any significant difference in the activity of the promoter region carrying this latter nucleotide change with respect to the wild‐type allele. We conclude that RNX, and presumably its expression, are not altered in our index cases of CCHS. © 2002 Wiley‐Liss, Inc.
Provisional new syndrome of MR/MCA with evolving phenotype
Authors: Lacassie Yves , Morava Éva , LaMotta Ivan 
Published: October 2002

AbstractWe report on a 10‐year‐old patient with a provisionally new syndrome of MR/MCA with an evolving phenotype. Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with epicanthal folds, telecanthus, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low‐set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases. Chromosomal and metabolic studies were normal. With aging, the phenotype has changed significantly: cutis laxa disappeared, the perianal creases and hypotonia are much milder, the initial apparent macrocephaly turned out to be true microcephaly, broad thumbs are less evident, but skeletal anomalies are more striking. Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome. © 2002 Wiley‐Liss, Inc.
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy
Authors: Aldred Micheala A. , Aftimos Salim , Hall Christine , Waters Katie S. , Thakker Rajesh V. , Trembath Richard C. , Brueton Louise 
Published: October 2002

AbstractAlbright hereditary osteodystrophy (AHO) results from heterozygous inactivation of Gsα, encoded by the GNAS1 locus on the distal long arm of chromosome 20. This autosomal dominant condition is characterized by short stature, obesity, shortening of the metacarpals and metatarsals, and variable mental retardation and may also include end‐organ resistance to multiple hormones. Small insertions and deletions or point mutations of GNAS1 are found in approximately 80% of patients with AHO. The remainder may be accounted for by larger genomic rearrangements, but none have been reported to date. We now describe two patients with constitutional 20q deletions and features of AHO. Such deletions are rare in the published literature and have not previously been associated with AHO. Molecular genetic analysis confirmed complete deletion of GNAS1 in both patients. Parental origin could be determined in both cases and provides further support for the parent‐of‐origin effect on the biochemical status of patients with AHO. © 2002 Wiley‐Liss, Inc.
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Authors: Passos‐Bueno Maria Rita , Armelin Lucia Maria , Alonso Luís Garcia , Neustein Isaac , Sertié Andréa L. , Abe Kikue , Pavanello Rita de Cássia , Elkis Lívia C. , Koiffmann Célia P. 
Published: October 2002

AbstractCraniosynostosis caused by genetic factors includes a heterogeneous group of over 100 syndromes, most with autosomal dominant inheritance. Mutations in five genes (FGFR1‐, −2, −3, TWIST, and MSX2) causing craniosynostosis as the main clinical feature were described. In most of these conditions, there are also limb malformations. We report a two‐generation kindred segregating microcornea, optic nerve alterations and cataract since childhood, craniosynostosis, and distal limb alterations, with a great clinical intrafamilial variability. The ophthalmological problems here described seem to be unique to this genealogy while similar feet alterations were apparently only described in two other affected siblings with acro‐cranial‐facial dysostosis syndrome (ADS). However, ADS has an autosomal recessive inheritance instead of the dominant pattern of the present genealogy. The candidate exons of the five genes previously mentioned were tested through sequencing analysis presenting normal results in all cases. Therefore, clinical and laboratory analyses in our patients suggest that their phenotype represents a new syndrome very likely caused by mutation in a gene different from those studied. © 2002 Wiley‐Liss, Inc.
Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies
Authors: Skrypnyk Cristina , Goecke Timm O. , Majewski Frank , Bartsch Oliver 
Published: October 2002

AbstractWe report on a prenatally diagnosed four‐month‐old boy with DiGeorge‐like phenotype and a deletion of chromosome 10pter → 14. Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (VSD), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay. The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion. © 2002 Wiley‐Liss, Inc.
Luminescence Literature
Authors: Kricka L.J 
Published: October 2002

AbstractThe journal provides comprehensive literature searches on all aspects of luminescence which will be published in most issues. These lists have been produced regularly since 1986—some by year and some by specialized topic. This survey of papers on Obelia, Renilla, Aequorea and Gonyaulax is drawn from the 2000 literature and covers the biology of these organisms and the applications of genes and proteins from these organisms in analysis.
Luminescence Literature
Authors: Kricka L.J 
Published: October 2002

AbstractThe Journal provides comprehensive literature searches on all aspects of luminescence, which will be published in most issues. These lists have been produced regularly since 1986—some by year and some by specialized topic. This survey of papers on chemiluminescent and bioluminescent immunoassays is drawn from the 2000 literature and covers reagents, assay development and validation, and applications.
On the chemiluminescence in the oxidation of tetravalent uranium to the uranyl ion by dimethyldioxirane
Authors: Kazakov Dmitri V. , Maistrenko Gulchekhrai Y. , Polyakova Natal'ya P. , Latypova Ramilya R. , Kazakov Valeri P. , Adam Waldemar , Trofimov Alexei V. , Zhao Cong‐Gui , Kiefer Wolfgang , Schlücker Sebastian 
Published: October 2002

AbstractThe reaction of the tetravalent uranium [U(IV)] with dimethyldioxirane (DMD) in strongly acidic water–acetone solutions is accompanied by chemiluminescence (CL) in the visible (Vis) and infra‐red (IR) regions. At least three independent reaction pathways are involved in the U(IV)–DMD oxidation: the first entails the non‐chemiluminescent oxidation of U(IV) to the uranyl ion (UO22+); the second involves the catalytic decomposition of DMD by U(IV) to afford singlet oxygen, as manifested by its characteristic IR‐CL; and in the third process, slow Vis‐CL (510–540 nm) is emitted, following DMD consumption. Copyright © 2002 John Wiley & Sons, Ltd.
Protein structure and bioluminescent spectra for firefly bioluminescence
Authors: Ugarova N. N. , Brovko L. Y. 
Published: October 2002

AbstractModern theory on general and specific effects of microenvironment on emission spectra was used for explanation of spectral differences for both natural and mutant forms of beetle luciferases, as well as for bioluminescence emitter oxyluciferin in model systems. For the analysis, both authors' and other published data were used. It was shown that active site mutations that resulted in spectral shifts of bioluminescence as a rule caused substantial decrease in the catalytic activity of the enzyme. At the same time, mutations in the conservative regions of the protein amino acid sequence that were in the periphery of the protein globe resulted in red shift of the bioluminescence spectra without affecting catalytic activity. Correlation was observed between the value of spectral shift and polarizability of the introduced amino acid residue: the higher the polarizability, the larger was the red shift of bioluminescence. Copyright © 2002 John Wiley & Sons, Ltd.
Effects of some trivalent metal ions on the fluoride‐induced chemiluminescence from a phenylphosphate‐substituted dioxetane Lumigen PPD
Authors: Shamsipur Mojtaba , Chaichi Mohammad Javad 
Published: October 2002

AbstractThe chemiluminescene generated from the reaction of a thermally stable phenylphosphate‐substituted dioxetane Lumigen PPD at ambient temperature was studied in DMSO solution. The presence of trivalent metal ions Cr3+, Ga3+, Fe3+ and Al3+ was found to quench the resulting chemiluminescence dramatically. The system resulted in nice Stern–Volmer plots in the quencher concentration range 1.5 × 10−4–1.8 × 10−3 mol/L. The K
Q values decreased in the order Cr3+ > Ga3+ > Fe3+ > Al3+. Copyright © 2002 John Wiley & Sons, Ltd.
Synthesis of 5‐tert‐butyl‐1‐(3‐tert‐butyldimethylsiloxy)phenyl‐4,4‐dimethyl‐2,6,7‐trioxabicyclo[3.2.0]heptanes and their fluoride‐induced chemiluminescent decomposition: effect of a phenolic electron donor on the CIEEL decay rate in aprotic polar solvent
Authors: Matsumoto Masakatsu , Ito Yoshihiro , Murakami Momoko , Watanabe Nobuko 
Published: October 2002

AbstractFour bicyclic dioxetanes bearing a phenolic substituent, 3‐tert‐butyldimethylsiloxy‐4‐chlorophenyl (3a), 5‐tert‐butyldimethylsiloxy‐4‐chloro‐2‐ethylphenyl (3b), 5‐tert‐butyldimethylsiloxy‐2‐ethylphenyl (3c), and 3‐tert‐butyldimethylsiloxy‐4‐ethylphenyl (3d), were synthesized. All dioxetanes 3a–3d gave intense blue light on treatment with tetrabutylammonium fluoride (TBAF) in DMSO or acetonitrile. Kinetic study on the fluoride‐induced CIEEL decay of these dioxetanes 3a–3d and the parent dioxetane 2b revealed that the para‐substitution with chlorine on the phenolic moiety of dioxetane increases free energy of activation (ΔG‡), while the para‐substitution with ethyl on the aryl decreases ΔG‡. On the other hand, substitution with an ethyl at the ortho‐position instead of the para‐position was found to increase ΔG‡ and to suppress the CIEEL decay. This fact is attributed to the steric factor of the ortho‐ethyl group which would prevent the aromatic ring from rotating freely around the axis joined to the peroxide ring, and supports the suggestion for a CIEEL‐active dioxetane bearing a phenolic moiety that an intramolecular electron transfer occurs preferentially from the phenolic donor to O–O of the dioxetane ring, when the aromatic ring lies in a certain conformation(s). Copyright © 2002 John Wiley & Sons, Ltd.
Kinetic studies on the peroxyoxalate chemiluminescence reaction: determination of the cyclization rate constant
Authors: Silva Sandra M. , Casallanovo Fúlvio , Oyamaguchi Karen H. , Ciscato Luiz F. L. M. , Stevani Cassius V. , Baader Wilhelm J. 
Published: October 2002

AbstractAlthough more currently utilized as analytical tool because of its high sensitivity and good reproducibility, the mechanism of the peroxyoxalate system, a chemiluminescence reaction with quantum yields only comparable to bioluminescence systems, has been extensively studied. The light emission mechanism can be divided in the pathway before chemiexcitation, which contains the rate‐limiting steps, and the fast and kinetically non‐observable chemiexcitation step. In this work, we obtain information on the mechanism of the slow pathways, attribute values to several rate constants prior to chemiexcitation and suggest a mechanistic scheme that could help optimization of conditions when the peroxyoxalate reaction is used as analytical tool. Copyright © 2002 John Wiley & Sons, Ltd.
Peroxisome proliferator‐activated receptor γ ligand troglitazone induces cell cycle arrest and apoptosis of hepatocellular carcinoma cell lines
Authors: Yoshizawa Kaname , Cioca Daniel P. , Kawa Shigeyuki , Tanaka Eiji , Kiyosawa Kendo 
Published: November 2002

AbstractBACKGROUNDLigand activation of peroxisome proliferator‐activated receptor γ (PPARγ) results in the inhibition of proliferation of various cancer cells. The aim of this study is to investigate the mechanisms of cell growth inhibition of hepatocellular carcinoma (HCC) cell lines by the PPARγ ligand, troglitazone.METHODSSix HCC cell lines were used to study the effects of troglitazone on cell growth by 3‐[4,5‐dimethylthiazol‐2‐yl]‐2,5‐diphenyltetrazolium bromide (MTT) assay, on cell cycle by flow cytometry, and on the cell cycle‐regulating factors of late G1 phase by Western blotting. Apoptosis assays were performed by flow cytometry using membrane, nuclear, cytoplasmic, and mitochondrial markers. Caspase inhibitors were used to analyze the mechanisms of apoptosis induced by troglitazone.RESULTSTroglitazone showed a potent dose‐dependent effect on the growth inhibition of all six HCC cell lines, which were suppressed to under 50% of control at the concentration of 10 μmol/L. The growth inhibition was linked to the G1 phase cell cycle arrest through the up‐expression of the cyclin‐dependent kinase inhibitors, p21 and p27 proteins, and the hypophosphorylation of retinoblastoma protein. Troglitazone induced apoptosis by caspase‐dependent (mitchondrial transmembrane potential decrease, cleavage of poly [adenosine diphosphate ribose] polymerase, 7A6 antigen exposure, Bcl‐2 decrease, and activation of caspase 3) and caspase‐independent (phosphatidylserine externalization) mechanisms.CONCLUSIONSOur data suggest that ligand activation of PPARγ by troglitazone or modified analogs of the thiazolidinedione class of drugs is a novel target for effective therapy against HCC, because of the significant antiproliferative and programmed cell death induction capabilities demonstrated by troglitazone. Cancer 2002;95:2243–51. © 2002 American Cancer Society.DOI 10.1002/cncr.10906