bluuebunny/crossref_metadata_2025_split huggingface dataset:
Vessels' morphology in SMAD4 and BMPR1A‐related juvenile polyposis
Authors: Handra‐Luca Adriana , Condroyer Christel , de Moncuit Céline , Tepper Maryline , Fléjou Jean‐François , Thomas Gilles , Olschwang Sylviane 
Published: September 2005

AbstractJuvenile polyposis syndrome is a hamartomatous intestinal polyposis associated with malignant changes in 20% of patients at an early age. Germline mutations mostly involve two genes, SMAD4 and BMPR1, with no strong evidence of phenotype‐genotype correlation, which could be predictive of the specific long‐term evolution. In contrast, PTEN mutations are more commonly associated with Cowden and related diseases. Forty‐two unrelated patients affected by juvenile polyposis syndrome were analyzed for germline alterations in the BMPR1A and SMAD4 genes, and for clinical and histological features. Deleterious mutations were found in 14/42 (33%) patients: 5 in BMPR1A and 9 in SMAD4. Low‐grade adenomas were present in both SMAD4 and BMPR1A mutation carriers; only patients with SMAD4 mutations harbored carcinoma lesions (5/9). Malformative vessels were present in all SMAD4 related polyps when the mutation involved codons prior to position 423. No gastric polyps were observed in BMPR1A mutation carriers. SMAD4 germline mutations are responsible for a more aggressive digestive phenotype in patients with juvenile polyposis. The presence of malformative vessels within the stromal component might be a useful tool to drive the subsequent genetic and clinical management. © 2005 Wiley‐Liss, Inc.
Adults with VATER association: Long‐term prognosis
Authors: Wheeler Patricia G. , Weaver David D. 
Published: September 2005

AbstractVATER “association” is a common condition, with the diagnosis typically based on a characteristic constellation of congenital anomalies. Reported long‐term follow‐up information on VATER association is limited, thus making it difficult to prognosticate the future of infants and children with this condition. Further, there are few data on how often the initial diagnosis of VATER association is correct. Some information has been published on growth deficiency and mental retardation, but these data are minimal [Bull et al., 1985; Mapstone et al., 1986; Weaver et al., 1986] and for the most part look at children under the age of 10 years. We have undertaken a long‐term follow‐up of individuals with VATER association originally reported by Weaver et al. [1986] or diagnosed with VATER association by his associates and him after 1986. Out of the 50 patients, we were able to contact 20 individuals or families. Two of the 20 individuals had died: 1 at 3 days with cardiac failure due to a truncus arteriosus, and 1 at 4 years of unspecified cause. Two were unwilling to participate. Of the rest, we interviewed and examined seven persons, and interviewed another nine by telephone. Of the 16, 5 had some degree of cognitive impairment. These individuals were more likely to have congenital anomalies outside of the typical scope of VATER association, such as prune belly sequence or findings of CHARGE association. Of the nine individuals with a history of imperforate anus, five had partial or complete incontinence as adults leading to difficulties in maintaining employment. Height was at the 5th centile or less in 6 of 16 patients. Three of four patients who were trying to have children, had infertility. In two women, the infertility was thought to be related to congenital anomalies of the genitourinary system and multiple pelvic operations. We also present the long‐term medical and neurologic problems in these individuals. © 2005 Wiley‐Liss, Inc.
Triploid mosaicism in a 45,X/69,XXY infant
Authors: Quigley Denise I. , McDonald Marie T. , Krishnamuthy Vidya , Kishnani Priya S. , Lee Mary M. , Haqq Andrea M. , Goodman Barbara K. 
Published: September 2005

AbstractWe report on an infant referred for chromosome analysis during the neonatal period due to ambiguous genitalia. The genitalia appeared male with bilaterally palpable testes, penoscrotal hypospadias, chordee, and a bifid scrotum. Chromosome analysis and interphase FISH analysis of lymphocytes showed a 45,X karyotype and no evidence for SRY in 200 nuclei examined, respectively. Subsequent chromosome analysis of fibroblasts revealed a 69,XXY karyotype. Molecular studies were carried out to determine the etiology of the chromosome findings. Results indicated that the two cell lines are mosaic rather than chimeric and that the triploidy resulted from delayed dispermy rather than delayed polar body inclusion. To our knowledge this is the first reported living individual with (near) diploid/triploid mosaicism for 45,X/69,XXY. © 2005 Wiley‐Liss, Inc.
Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications
Authors: Yatsenko Svetlana A. , Treadwell‐Deering Diane , Krull Kevin , Lewis Richard Alan , Glaze Daniel , Stankiewicz Pawel , Lupski James R. , Potocki Lorraine 
Published: September 2005

AbstractThe unstable, gene‐rich chromosome region 17p11.2‐p12 is associated with various structural aberrations including supernumerary marker chromosomes (SMCs). In some cases, SMC(17)s utilize the same substrates for recombination as the common recurrent 17p11.2 and 17p12 rearrangements. We report on a 9‐year‐old girl with a de novo mosaic SMC(17). The der(17) encompasses genetic material from 17p10‐p11.2 and is present in 97% of peripheral blood lymphocytes and in 79% of buccal cells. The patient has few features similar to individuals with duplication 17p11.2 including mental retardation, language impairment, and sleep disturbances but has normal growth, and no structural abnormalities of the heart, kidneys, or brain. She has no substantial behavioral abnormalities or dysmorphic features. Molecular analyses determined that the der(17) contains RAI1 but not PMP22. We found one chromosome breakpoint within the centromere and the second breakpoint within the distal Smith–Magenis syndrome low‐copy repeat (distal SMS‐REP). Recently we characterized the breakpoints of three other marker chromosomes originating from the proximal short arm of chromosome 17. In all four cases, one breakpoint maps within the centromere and in three cases the second breakpoint maps within a low‐copy repeat. We thus propose that genome architecture may play a significant role in the formation of marker chromosomes. We present the cytogenetic, molecular, and clinical data of this patient and compare our results with those of patients with dup(17)(p11.2p11.2) syndrome and other patients with SMC(17). © 2005 Wiley‐Liss, Inc.
Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)
Authors: Haimi Motti , Gershoni‐Baruch Ruth 
Published: September 2005

AbstractWe describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver–McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome. © 2005 Wiley‐Liss, Inc.
Evidence of genetic overlap of schizophrenia and bipolar disorder: Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population
Authors: Walss‐Bass Consuelo , Escamilla Michael A. , Raventos Henriette , Montero A. Patricia , Armas Regina , Dassori Albana , Contreras Salvador , Liu Wei , Medina Rolando , Balderas Teresa G. , Levinson Douglas , Pereira Reynaldo , Pereira Mariana , Atmella Ivannia , NeSmith Lisa , Leach Robin , Almasy Laura 
Published: September 2005

AbstractThe long‐standing concept that schizophrenia (SC) and bipolar disorder (BP) represent two distinct illnesses has been recently challenged by findings of overlap of genetic susceptibility loci for these two diseases. We report here the results of a linkage disequilibrium (LD) analysis of chromosome 18 utilizing subjects with SC from the Central Valley of Costa Rica. Evidence of association (P < 0.05) was obtained in three chromosomal regions: 18p11.31 (D18S63), 18q12.3 (D18S474), and 18q22.3‐qter (D18S1161, D18S70), all of which overlap or are in close proximity with loci previously shown to be in LD with BP, type I in this population. Since both the SC and bipolar samples contained cases with a history of mania and almost all cases of SC and BP had a history of psychosis, we performed an alternative phenotyping strategy to determine whether presence or absence of mania, in the context of psychosis, would yield distinct linkage patterns along chromosome 18. To address this issue, a cohort of psychotic patients (including a range of DSMIV diagnoses) was divided into two groups based on the presence or absence of mania. Regions that showed association with SC showed segregation of association when the sample was stratified by history of mania. Our results are compared with previous genetic studies of susceptibility to SC or BP, in Costa Rica as well as in other populations. This study illustrates the importance of detailed phenotype analysis in the search for susceptibility genes influencing complex psychiatric disorders in isolated populations and suggests that subdivision of psychoses by presence or absence of past mania syndromes may be useful to define genetic subtypes of chronic psychotic illness. © 2005 Wiley‐Liss, Inc.
Genome scan of schizophrenia families in a large Veterans Affairs Cooperative Study sample: Evidence for linkage to 18p11.32 and for racial heterogeneity on chromosomes 6 and 14
Authors: Faraone S.V. , Skol A.D. , Tsuang D.W. , Young K.A. , Haverstock S.L. , Prabhudesai S. , Mena F. , Menon A.S. , Leong L. , Sautter F. , Baldwin C. , Bingham S. , Weiss D. , Collins J. , Keith T. , vanden Eng J.L. , Boehnke M. , Tsuang M.T. , Schellenberg G.D. 
Published: September 2005

AbstractGenome‐wide linkage analyses of schizophrenia have identified several regions that may harbor schizophrenia susceptibility genes but, given the complex etiology of the disorder, it is unlikely that all susceptibility regions have been detected. We report results from a genome scan of 166 schizophrenia families collected through the Department of Veterans Affairs Cooperative Studies Program. Our definition of affection status included schizophrenia and schizoaffective disorder, depressed type and we defined families as European American (EA) and African American (AA) based on the probands' and parents' races based on data collected by interviewing the probands. We also assessed evidence for racial heterogeneity in the regions most suggestive of linkage. The maximum LOD score across the genome was 2.96 for chromosome 18, at 0.5 cM in the combined race sample. Both racial groups showed LOD scores greater than 1.0 for chromosome 18. The empiricalP‐value associated with that LOD score is 0.04 assuming a single genome scan for the combined sample with race narrowly defined, and 0.06 for the combined sample allowing for broad and narrow definitions of race. The empiricalP‐value of observing a LOD score as large as 2.96 in the combined sample, and of at least 1.0 in each racial group, allowing for narrow and broad racial definitions, is 0.04. Evidence for the second and third largest linkage signals come solely from the AA sample on chromosomes 6 (LOD = 2.11 at 33.2 cM) and 14 (LOD = 2.13 at 51.0). The linkage evidence differed between the AA and EA samples (chromosome 6P‐value = 0.007 and chromosome 14P‐value = 0.004). © 2005 Wiley‐Liss, Inc.
Haplotype‐controlled analysis of the association of a non‐synonymous single nucleotide polymorphism at DBH (+ 1603C → T) with plasma dopamine β‐hydroxylase activity
Authors: Tang Yilang , Anderson George M. , Zabetian Cyrus P. , Köhnke Michael D. , Cubells Joseph F. 
Published: September 2005

AbstractThe DBH locus controls plasma dopamine β‐hydroxylase activity (pDβH). A 5′‐upstream single nucleotide polymorphism (SNP) at DBH (−1021C → T) explains ∼45% of the variance in pDβH, and a non‐synonymous SNP in exon 11 (+ 1603C → T) an additional 2%. However, that regression result underestimates the effect of + 1603C → T because of its low minor allele frequency. We estimated the biological effect of + 1603C → T on pDβH by comparing subjects of identical −1021CγT genotype, in a diagnostically heterogeneous group of subjects of European origin (N = 367). + 1603C → T genotype associated with pDβH within groups of identical genotype at −1021 C → T, accounting for 5%–16% of the variance. There was no significant linkage disequilibrium between −1021C → T and + 1603C → T (D = 0.0058, D′ = 0.4774, d2 = 0.0011, P > 0.05), confirming the validity of assessing the two polymorphisms independently. These results suggest that altered homospecific activity of the enzyme can contribute to variation in pDβH. This conclusion informs how associations between DBH and psychiatric disorders should be approached. © 2005 Wiley‐Liss, Inc.
Linkage analysis of anorexia and bulimia nervosa cohorts using selected behavioral phenotypes as quantitative traits or covariates
Authors: Bacanu Silviu‐Alin , Bulik Cynthia M. , Klump Kelly L. , Fichter Manfred M. , Halmi Katherine A. , Keel Pamela , Kaplan Allan S. , Mitchell James E. , Rotondo Alessandro , Strober Michael , Treasure Janet , Woodside D. Blake , Sonpar Vibhor A. , Xie Weiting , Bergen Andrew W. , Berrettini Wade H. , Kaye Walter H. , Devlin Bernie 
Published: September 2005

AbstractTo increase the likelihood of finding genetic variation conferring liability to eating disorders, we measured over 100 attributes thought to be related to liability to eating disorders on affected individuals from multiplex families and two cohorts: one recruited through a proband with anorexia nervosa (AN; AN cohort); the other recruited through a proband with bulimia nervosa (BN; BN cohort). By a multilayer decision process based on expert evaluation and statistical analysis, six traits were selected for linkage analysis (1): obsessionality (OBS), age at menarche (MENAR), and anxiety (ANX) for quantitative trait locus (QTL) linkage analysis; and lifetime minimum body mass index (BMI), concern over mistakes (CM), and food‐related obsessions (OBF) for covariate‐based linkage analysis. The BN cohort produced the largest linkage signals: for QTL linkage analysis, four suggestive signals: (for MENAR, at 10p13; for ANX, at 1q31.1, 4q35.2, and 8q13.1); for covariate‐based linkage analyses, both significant and suggestive linkages (for BMI, one significant [4q21.1] and three suggestive [3p23, 10p13, 5p15.3]; for CM, two significant [16p13.3, 14q21.1] and three suggestive [4p15.33, 8q11.23, 10p11.21]; and for OBF, one significant [14q21.1] and five suggestive [4p16.1, 10p13.1, 8q11.23, 16p13.3, 18p11.31]). Results from the AN cohort were far less compelling: for QTL linkage analysis, two suggestive signals (for OBS at 6q21 and for ANX at 9p21.3); for covariate‐based linkage analysis, five suggestive signals (for BMI at 4q13.1, for CM at 11p11.2 and 17q25.1, and for OBF at 17q25.1 and 15q26.2). Overlap between the two cohorts was minimal for substantial linkage signals. © 2005 Wiley‐Liss, Inc.
Selection of eating‐disorder phenotypes for linkage analysis
Authors: Bulik Cynthia M. , Bacanu Silviu‐Alin , Klump Kelly L. , Fichter Manfred M. , Halmi Katherine A. , Keel Pamela , Kaplan Allan S. , Mitchell James E. , Rotondo Alessandro , Strober Michael , Treasure Janet , Woodside D. Blake , Sonpar Vibhor A. , Xie Weiting , Bergen Andrew W. , Berrettini Wade H. , Kaye Walter H. , Devlin Bernie 
Published: September 2005

AbstractVulnerability to anorexia nervosa (AN) and bulimia nervosa (BN) arise from the interplay of genetic and environmental factors. To explore the genetic contribution, we measured over 100 psychiatric, personality, and temperament phenotypes of individuals with eating disorders from 154 multiplex families accessed through an AN proband (AN cohort) and 244 multiplex families accessed through a BN proband (BN cohort). To select a parsimonious subset of these attributes for linkage analysis, we subjected the variables to a multilayer decision process based on expert evaluation and statistical analysis. Criteria for trait choice included relevance to eating disorders pathology, published evidence for heritability, and results from our data. Based on these criteria, we chose six traits to analyze for linkage. Obsessionality, Age‐at‐Menarche, and a composite Anxiety measure displayed features of heritable quantitative traits, such as normal distribution and familial correlation, and thus appeared ideal for quantitative trait locus (QTL) linkage analysis. By contrast, some families showed highly concordant and extreme values for three variables—lifetime minimum Body Mass Index (lowest BMI attained during the course of illness), concern over mistakes, and food‐related obsessions—whereas others did not. These distributions are consistent with a mixture of populations, and thus the variables were matched with covariate linkage analysis. Linkage results appear in a subsequent report. Our report lays out a systematic roadmap for utilizing a rich set of phenotypes for genetic analyses, including the selection of linkage methods paired to those phenotypes. © 2005 Wiley‐Liss, Inc.
Significant association of BDNF haplotypes in European‐American male smokers but not in European‐American female or African‐American smokers
Authors: Beuten Joke , Ma Jennie Z. , Payne Thomas J. , Dupont Randolph T. , Quezada Paulina , Huang Weihua , Crews Karen M. , Li Ming D. 
Published: September 2005

AbstractBrain‐derived neurotrophic factor (BDNF) influences dopamine and serotonin neurotransmission in the brain, both of which are involved in the reward system of addiction. The BDNF gene is located in a genomic region on chromosome 11p where we and others have found ‘significant’ linkage to nicotine dependence (ND). We tested the potential role of variants within BDNF in vulnerability to ND, which was assessed by Smoking Quantity (SQ), the Heaviness of Smoking Index (HSI), and the Fagerström Test for ND (FTND). Six single nucleotide polymorphisms (SNPs) in BDNF were analyzed in an extensively phenotyped cohort of 602 nuclear families with smokers and non‐smokers of African‐American (AA) or European‐American (EA) ancestry. Individual SNP analysis revealed that two SNPs in the pooled male and three SNPs in the EA male samples were significantly associated with at least one adjusted ND measure. However, none of these associations remained significant after correction for multiple testing. Haplotype analysis of rs6484320‐rs988748‐rs2030324‐rs7934165 revealed that a major T–C–T–G haplotype was significantly associated, even after Bonferroni correction, with the three ND measures in the pooled and EA male samples (maximum Z = 3.00, P = 0.002 and maximum Z = 3.13, P = 0.0009 for SQ, respectively). No significant association of a major haplotype with ND was found in the AA or EA female smokers. The significant association of BDNF variants with ND implies that this gene plays a role in the etiology of ND in EAs and that its involvement is gender specific. BDNF may warrant further investigation in ND. © 2005 Wiley‐Liss, Inc.
Proteinreaktive Naturstoffe
Authors: Drahl Carmen , Cravatt Benjamin F. , Sorensen Erik J. 
Published: September 2005

AbstractIn der Post‐Genom‐Ära steht man vor der gewaltigen Aufgabe, die Strukturen und Funktionen zehntausender codierter Proteine zuzuweisen. Zur Analyse der Proteinfunktion werden neue Technologien mit großer Bandbreite entwickelt, etwa die aktivitätsbasierte Proteinanalyse (activity‐based protein profiling, ABPP). Bei diesem Verfahren sollen auf das aktive Zentrum gerichtete chemische Sonden entwickelt werden, um die Enzyme in ganzen Proteomen zu analysieren. Derartige chemische Proteomtechnologien können von proteinreaktiven Naturstoffen lernen, die Enzyme der unterschiedlichsten Klassen durch ein bemerkenswert vielfältiges Spektrum an Mechanismen kovalent modifizieren und somit eine reiche Quelle an Konzepten für die Entwicklung gegen aktive Zentren gerichteter Proteomsonden bilden. Hier werden wir anhand unterschiedlicher Naturstoffe zeigen, wie ihre Wirkmechanismen zum Fortschritt chemischer Proteomtechnologien wie ABPP beigetragen haben.
Protein‐Reactive Natural Products
Authors: Drahl Carmen , Cravatt Benjamin F. , Sorensen Erik J. 
Published: September 2005

AbstractResearchers in the post‐genome era are confronted with the daunting task of assigning structure and function to tens of thousands of encoded proteins. To realize this goal, new technologies are emerging for the analysis of protein function on a global scale, such as activity‐based protein profiling (ABPP), which aims to develop active site‐directed chemical probes for enzyme analysis in whole proteomes. For the pursuit of such chemical proteomic technologies, it is helpful to derive inspiration from protein‐reactive natural products. Natural products use a remarkably diverse set of mechanisms to covalently modify enzymes from distinct mechanistic classes, thus providing a wellspring of chemical concepts that can be exploited for the design of active‐site‐directed proteomic probes. Herein, we highlight several examples of protein‐reactive natural products and illustrate how their mechanisms of action have influenced and continue to shape the progression of chemical proteomic technologies like ABPP.
The effects of enalapril maleate and cold stress exposure on tyrosine hydroxylase activity in some rat tissues
Authors: Talas Zeliha Selamoglu , Yurekli Muhittin 
Published: September 2005

AbstractEnalapril is a highly specific and competitive inhibitor of angiotensin‐I converting enzyme (ACE) and thus belongs to the category of ACE inhibitors. The beneficial effects of ACE inhibitors appear to result primarily from the suppression of the plasma renin–angiotensin–aldesterone system. This study was designed to detect the effects of enalapril maleate and cold stress on tyrosine hydroxylase (TH) activity in adrenal medulla, heart and hypothalamus in rat. In cold stress treatment (exposed to 8°C cold for 48 h) TH activity was found to be raised significantly (p < 0.05) in adrenal medulla, hypothalamus and heart tissues. In the adrenal medulla, hypothalamus and heart tissues, TH activity of enalapril maleate treated rats (10 mg kg−1 body weight) group was not raised significantly (p > 0.05). Following intraperitoneal injection of enalapril maleate (10 mg kg−1 body weight) the rats were exposed to 8°C cold for 48 h. After cold stress and enalapril maleate treatment no statistically significant change in tyrosine hydroxylase activity was detected in adrenal medulla, hypothalamus or heart (p > 0.05). The results of our studies show that enalapril maleate blocks the effect of cold stress on the regulation of TH activity. Copyright © 2005 John Wiley & Sons, Ltd.