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Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study

MOVEMENT DISORDERS 2017年第11期32卷 1620-1630页

作者： Darling, Alejandra Tello, Cristina Josep Marti, Maria Garrido, Cristina Aguilera-Albesa, Sergio Tomas Vila, Miguel Gaston, Itziar Madruga, Marcos Gonzalez Gutierrez, Luis Ramos Lizana, Julio Pujol, Montserrat Gavilan Iglesias, Tania Tustin, Kylee Lin, Jean Pierre Zorzi, Giovanna Nardocci, Nardo Martorell, Loreto Lorenzo Sanz, Gustavo Gutierrez, Fuencisla Garcia, Pedro J. Vela, Lidia Hernandez Lahoz, Carlos Ortigoza Escobar, Juan Dario Marti Sanchez, Laura Moreira, Fradique Coelho, Miguel Guedes, Leonor Correia Caldas, Ana Castro Ferreira, Joaquim Pires, Paula Costa, Cristina Rego, Paulo Magalhaes, Marina Stamelou, Maria cuadras Palleja, daniel Rodriguez-Blazquez, Carmen Martinez-Martin, Pablo Lupo, Vincenzo Stefanis, Leonidas Pons, Roser Espinos, Carmen Temudo, Teresa Perez Duenas, Belen Hosp St Joan de Deu Unit Pediat Movement Disorders Barcelona Spain Ctr Invest Principe Felipe Unit Genet & Genom Neuromuscular & Neurodegenerat Valencia Spain Hosp Clin Barcelona Inst Invest Biomed IDIBAPS Neurol Dept Barcelona Spain Ctr Invest Biomed Red Neurodegenerat CIBERNED Madrid Spain Ctr Hosp Porto Ctr Maternoinfantil Pediat Neurol Dept Oporto Portugal Complejo Hosp Navarra Navarrabiomed Pediat Neurol Dept Pamplona Spain Hosp Univ Politecn La Fe Pediat Neurol Dept Valencia Spain Complejo Hosp Navarra Neurol Dept Pamplona Spain Hosp Univ Virgen Rocio Pediat Neurol Dept Seville Spain Hosp Infantil Univ Nino Jesus Pediat Neurol Dept Madrid Spain Hosp Torrecardenas Pediat Neurol Dept Almeria Spain Hosp Santa Maria Neurol Dept Lerida Spain Hosp Merida Neurol Dept Extremadura Spain Guys & St Thomas NHS Fdn Trust Evelina London Childrens Hosp Childrens Neurosci London England Fdn IRCCS C Besta Dept Pediat Neurosci Milan Italy Hosp St Joan de Deu Mol Genet Dept Inst Salud Carlos 3 Madrid Spain Hosp Ramon & Cajal Pediat Neurol Dept Madrid Spain Complejo Asistencial Univ Palencia Neurol Dept Palencia Spain Fdn Jimenez Diaz Neurol Dept Madrid Spain Hosp Alcorcon Neurol Dept Madrid Spain Hosp Cent Asturias Neurol Dept Oviedo Spain Ctr Hosp & Univ Coimbra Neurol Dept Coimbra Portugal Hosp Santa Maria Inst Med Mol Clin Pharmacol Unit Lisbon Portugal Hosp Santa Maria Dept Neurosci Serv Neurol Lisbon Portugal Lisbon Fac Med Lab Clin Pharmacol & Therapeut Lisbon Portugal Hosp Santo Espirito Neurol Dept Ilha Terceira Portugal Hosp Fernando Fonseca Neurol Dept Lisbon Portugal Hosp Cent Funchal Pediat Dept Funchal Portugal Centro Hosp Porto Neurol Dept Oporto Portugal Natl & Kapodistrian Univ Athens Med Sch Dept Neurol 2 Athens Greece HYGEIA Hosp Parkinsons Dis & Other Movement Disorders Dept Athens Greece Sant Joan de Deu Fdn Stat Dept Barcelona Spain Inst Hlth Carlos III Natl Ctr Epidemiol Madrid Spain Inst Hlth Carlos

Background: Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration. Methods: In this international cross-sectional study, patients were examined at the referral centers following a standardized protocol. The motor examination was filmed, allowing 3 independent specialists in movement disorders to analyze 28 patients for interrater reliability assessment. The scale included 34 items (maximal score, 135) encompassing 6 subscales for cognition, behavior, disability, parkinsonism, dystonia, and other neurological signs. Results: Forty-seven genetically confirmed patients (30 17 years;range, 6-77 years) were examined with the scale (mean score, 62 +/- 21;range, 20-106). Dystonia with prominent cranial involvement and atypical parkinsonian features were present in all patients. Other common signs were cognitive impairment, psychiatric features, and slow and hypometric saccades. Dystonia, parkinsonism, and other neurological features had a moderate to strong correlation with disability. The scale showed good internal consistency for the total scale (Cronbach's alpha = 0.87). On interrater analysis, weighted kappa values (0.30-0.93) showed substantial or excellent agreement in 85% of the items. The scale also discriminated a subgroup of homozygous c.1583C>T patients with lower scores, supporting construct validity for the scale. Conclusions: The proposed scale seems to be a reliable and valid instrument for the assessment of pediatric and adult patients with pantothenate kinase-associated neurodegeneration. Additional validation studies with a larger sample size will be required to confirm the present results and to complete the scale validation testing. (c) 2017 International Parkinson and Movement Disorder Society

关键词： pantothenate kinase-associated neurodegeneration PKAN clinical rating scale neurodegeneration with brain iron accumulation dystonia parkinsonism

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Differences between CAFs and their paired NCF from adjacent colonic mucosa reveal functional heterogeneity of CAFs, providing prognostic information

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MOLECULAR ONCOLOGY 2014年第7期8卷 1290-1305页

作者： Berdiel-Acer, Mireia Sanz-Pamplona, Rebeca Calon, Alexandre cuadras, daniel Berenguer, Antoni Sanjuan, Xavier Jose Paules, Maria Salazar, Ramon Moreno, Victor Batlle, Eduard Villanueva, Alberto Mollevi, David G. IDIBELL Catalan Inst Oncol Translat Res Lab Lhospitalet De Llobregat 08908 Catalonia Spain IDIBELL Catalan Inst Oncol Canc Prevent & Monitoring Programme Biomarkers & Susceptibil Unit Lhospitalet De Llobregat 08908 Catalonia Spain Inst Res Biomed IRB Oncol Programme Barcelona Catalonia Spain Hosp Univ Belluitge IDIBELL Dept Pathol Lhospitalet De Llobregat Catalonia Spain IDIBELL Dept Med Oncol Catalan Inst Oncol Lhospitalet De Llobregat 08908 Catalonia Spain

Little is known about the difference in gene expression between carcinoma-associated fibroblasts (CAFs) and paired normal colonic fibroblasts (NCFs) in colorectal cancer. Paired CAFs and NCFs were isolated from eight primary human colorectal carcinoma specimens. In culture conditions, soluble factors secreted by CAFs in the conditioned media increased clonogenicity and migration of epithelial cancer cells lines to a greater extent than did NCF. In vivo, CAFs were more competent as tumour growth enhancers than paired NCFs when co-inoculated with colorectal cell lines. Gene expression analysis of microarrays of CAF and paired NCF populations enabled us to identify 108 deregulated genes (38 upregulated and 70 downregulated genes). Most of those genes are fibroblast-specific. This has been validated in silico in dataset GSE39396 and by qPCR in selected genes. GSEA analysis revealed a differential transcriptomic profile of CAFs, mainly involving the Wnt signallingsignailing pathway, focal adhesion and cell cycle. Both deregulated genes and biological processes involved depicted a considerable degree of overlap with deregulated genes reported in breast, lung, oesophagus and prostate CAFs. These observations suggest that similar transcriptomic programs may be active in the transition from normal fibroblast in adjacent tissues to CAFs, independently of their anatomic demarcation. Additionally NCF already depicted an activated pattern associated with inflammation. The deregulated genes signature score seemed to correlate with CAF tumour promoter abilities in vitro, suggesting a high degree of heterogeneity between CAFs, and it has also prognostic value in two independent datasets. Further characterization of the roles these biomarkers play in cancer will reveal how CAFs provide cancer cells with a suitable microenvironment and may help in the development of new therapeutic targets for cancer treatment (C) 2014 Federation of European Biochemical Societies. Published by Elsevi

关键词： Carcinoma-associated fibroblasts Microenvironment Stroma Biomarker Colorectal

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Prevalence and Heritability of Obsessive-Compulsive Spectrum and Anxiety Disorder Symptoms: A Survey of the Australian Twin Registry

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AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS 2014年第4期165卷 314-325页

作者： Lopez-Sola, Clara Fontenelle, Leonardo F. Alonso, Pino cuadras, daniel Foley, Debra L. Pantelis, Christos Pujol, Jesus Yuecel, Murat Cardoner, Narcis Soriano-Mas, Carles Menchon, Jose M. Harrison, Ben J. Bellvitge Hosp Bellvitge Biomed Res Inst IDIBELL Dept Psychiat Barcelona Spain Univ Barcelona Dept Clin Sci Barcelona Spain Carlos III Hlth Inst CIBERSAM Ctr Invest Red Salud Mental Madrid Spain Univ Fed Rio de Janeiro Inst Psiquiatria Programa Ansiedade & Depressao Rio De Janeiro Brazil Inst DOr Pesquisa & Ensino IDOR Rio De Janeiro Brazil Univ Fed Fluminense Inst Saude Comunidade Rio De Janeiro Brazil St Joan de Deu Fundat Stat Unit Barcelona Spain Univ Melbourne Ctr Youth Mental Hlth Orygen Youth Hlth Res Ctr Melbourne Vic 3053 Australia Univ Melbourne Melbourne Neuropsychiat Ctr Dept Psychiat Melbourne Vic 3053 Australia CIBERSAM G21 Hosp del Mar CRC Barcelona Spain Monash Univ Sch Psychol & Psychiat Monash Clin & Imaging Neurosci Lab Clayton Vic Australia

While past twin studies indicate moderate levels of heritability of "obsessive-compulsive related" and anxiety disorder symptoms, no single study has reported such estimates in the same twin population nor examined potential genetic sex differences. We assessed symptoms of obsessive-compulsive disorder, body dysmorphic disorder, hoarding disorder, hypochondriasis, panic disorder, social phobia and generalized anxiety disorder in 2,495 adult twins (1,468 female). Prevalence estimates for the corresponding symptom measures were determined using empirically derived cut-off scores. Twin resemblance was assessed by Pearson correlations and biometrical model-fitting analyses, incorporating sex-specific effects, using OpenMx. Prevalence estimates ranged from 1.6% in the symptoms of generalized anxiety to 16.9% for social phobia. Female twins demonstrated significantly higher prevalence rates across all domains with the exception of obsessive-compulsive symptoms. Additive genetic factors accounted for a moderate proportion of the total liability to each symptom domain. Evidence suggesting qualitative genetic sex differences (i.e., distinct genetic influences between genders) was observed for body dysmorphic concern and panic symptoms, while quantitative differences were observed for hoarding and social phobia symptoms, indicating stronger heritability in females. Novel findings in this study include the observation of probable genetic sex differences in liability towards hoarding symptoms and dysmorphic concern, as well as the lack of such differences in hypochondriasis. The trend towards qualitative sex differences in panic symptoms has some intuitive appeal with regard to biological-experimental models of panic. (C) 2014 Wiley Periodicals, Inc.

关键词： obsessive-compulsive related disorders anxiety disorders twins genetic sex differences heritability

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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

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ORPHANET JOURNAL OF RARE DISEASES 2015年第1期10卷 138-138页

作者： Serrano, Mercedes de Diego, Victor Muchart, Jordi cuadras, daniel Felipe, Ana Macaya, Alfons Velazquez, Ramon Poo, M. Pilar Fons, Carmen Mar O'Callaghan, M. Garcia-Cazorla, Angels Boix, Cristina Robles, Bernabe Carratala, Francisco Giros, Marisa Briones, Paz Gort, Laura Artuch, Rafael Perez-Cerda, Celia Jaeken, Jaak Perez, Belen Perez-Duenas, Belen Hosp St Joan de Deu Neuropediat Dept U Ctr Biomed Res Rare Dis CIBER ER 703 Inst Salud Carlos 3 Passeig St Joan de Deu 2 Barcelona 08950 Spain Hosp St Joan de Deu Dept Radiol U Ctr Biomed Res Rare Dis CIBER ER 703 Inst Salud Carlos 3 Barcelona 08950 Spain Hosp St Joan de Deu Clin Biochem Dept U Ctr Biomed Res Rare Dis CIBER ER 703 Inst Salud Carlos 3 Barcelona 08950 Spain Fundacio St Joan de Deu Barcelona Spain Univ Autonoma Barcelona Grp Recerca Neurol Pediat Inst Recerca Vall dHebron Seccio Neurol PediatHosp Univ Vall dHebron E-08193 Barcelona Spain Hosp Univ La Paz Dept Neurol Madrid Spain Hosp Gen St Boi Dept Neurol Barcelona Spain Hosp St Joan Alacant Dept Neurol Alicante Spain Hosp Clin IBC IDIBAPS Inst Salud Carlos 3 U Ctr Biomed Res Rare Dis CIBER ER 737 Barcelona Spain Univ Autonoma Madrid U Ctr Biomed Res Rare Dis CIBER ER Madrid 746 Inst Salud Carlos 3IdiPAZ Ctr Diagnost Enfermedades Mol CEDEM Madrid Spain KULeuven Ctr Metab Dis Leuven Belgium

Background: Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation of drug candidates will require a standardized score of cerebellar dysfunction. We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. We compare ICARS results with the Nijmegen Pediatric CDG Rating Scale (NPCRS), neuroimaging, intelligence quotient (IQ) and molecular data. Methods: Our observational study included 13 PMM2-CDG patients and 21 control subjects. Ethical permissions and informed consents were obtained. Three independent child neurologists rated PMM2-CDG patients and control subjects using the ICARS. A single clinician administered the NPCRS. All patients underwent brain MRI, and the relative diameter of the midsagittal vermis was measured. Psychometric evaluations were available in six patients. The Mann-Whitney U test was used to compare ICARS between patients and controls. To evaluate inter-observer agreement in patients' ICARS ratings, intraclass correlation coefficients (ICC) were calculated. ICARS internal consistency was evaluated using Cronbach's alpha. Spearman's rank correlation coefficient test was used to correlate ICARS with NPCRS, midsagittal vermis relative diameter and IQ. Results: ICARS and ICARS subscores differed between patients and controls (p < 0.001). Interobserver agreement of ICARS was "almost perfect" (ICC = 0.99), with a "good" internal reliability (Cronbach's alpha = 0.72). ICARS was significantly correlated with the total NPCRS score (r(s) 0.90, p < 0.001). However, there was no agreement regarding categories of severity. Regarding neuroimaging, inverse c

关键词： Cerebellum Congenital disorders of glycosylation Developmental disorders Gait disorders/ataxia MRI Neuropsychological assessment

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Distance-Based Measures of Association with Applications in Relating Hyperspectral Images

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COMMUNICATIONS IN STATISTICS-THEORY AND METHODS 2012年第13-14期41卷 2342-2355页

作者： cuadras, Carles M. Valero, Silvia cuadras, daniel Salembier, Philippe Chanussot, Jocelyn Univ Barcelona Dept Estadist E-08028 Barcelona Spain Grenoble Inst Technol INPG GIPSA Lab Grenoble France Inst Invest Biomed Bellvitge Serv Assessoria Estadist Lhospitalet De Llobregat Spain Univ Politecn Cataluna Dept Teoria Senyal & Comunicac Barcelona Spain

We propose a distance-based method to relate two data sets. We define and study some measures of multivariate association based on distances between observations. The proposed approach can be used to deal with general data sets (e.g., observations on continuous, categorical or mixed variables). An application, using Hellinger distance, provides the relationships between two regions of hyperspectral images.

关键词： Binary partition tree Canonical correlations Hellinger distance Metric multidimensional scaling Wilks lambda

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Distance-based measures of association with applications in relating hyperspectral images

Distance-based measures of association with applications in ...

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作者： cuadras, Carles M. Valero, Silvia cuadras, daniel Salembier, Philippe Chanussot, Jocelyn Department d'Estadística Universitat de Barcelona Díagonal 645 Barcelona 08028 Spain GIPSA-Lab Grenoble France Servei d'Assessoria Estadística Institut d'Investigacio Biomèdica de Bellvitge Hospitalet Spain Department de Teoria Del Senyal i Comunicacions Universitat Politècnica de Catalunya Barcelona Spain

关键词： Binary trees

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Partitioning the Geometric Variability in Multivariate Analysis and Contingency Tables

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1st Joint Meeting of the Societe-Francophone-de-Classification and the Classification and Data Analysis Group of the Italian-Statistical-Society

作者： cuadras, Carles M. cuadras, daniel Univ Barcelona Dept Stat Barcelona Spain IDIBELL Barcelona Spain

ISBN: (纸本)9783642133114

Most methods of multivariate analysis obtain and interpret an appropriate decomposition of the variability. In canonical variate analysis, multidimensional scaling and correspondence analysis, the variability of the data is measured in terms of distances. Then the geometric variability (inertia) plays an important role. We present a unified approach for describing four methods for representing categorical data in a contingency table. We define the generalized Pearson contingency coefficient and show situations where this measure can be different from the geometric variability.

关键词： Multivariant analysis

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Exploring the link between MORF4L1 and risk of breast cancer

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BREAST CANCER RESEARCH 2011年第2期13卷 1-14页

作者： Martrat, Griselda Maxwell, Christopher A. Tominaga, Emiko Porta-de-la-Riva, Montserrat Bonifaci, Nuria Gomez-Baldo, Laia Bogliolo, Massimo Lazaro, Conxi Blanco, Ignacio Brunet, Joan Aguilar, Helena Fernandez-Rodriguez, Juana Seal, Sheila Renwick, Anthony Rahman, Nazneen Kuehl, Julia Neveling, Kornelia Schindler, Detlev Ramirez, Maria J. Castella, Maria Hernandez, Gonzalo Easton, Douglas F. Peock, Susan Cook, Margaret Oliver, Clare T. Frost, Debra Platte, Radka Evans, D. Gareth Lalloo, Fiona Eeles, Rosalind Izatt, Louise Chu, Carol Davidson, Rosemarie Ong, Kai-Ren Cook, Jackie Douglas, Fiona Hodgson, Shirley Brewer, Carole Morrison, Patrick J. Porteous, Mary Peterlongo, Paolo Manoukian, Siranoush Peissel, Bernard Zaffaroni, daniela Roversi, Gaia Barile, Monica Viel, Alessandra Pasini, Barbara Ottini, Laura Putignano, Anna Laura Savarese, Antonella Bernard, Loris Radice, Paolo Healey, Sue Spurdle, Amanda Chen, Xiaoqing Beesley, Jonathan Rookus, Matti A. Verhoef, Senno Tilanus-Linthorst, Madeleine A. Vreeswijk, Maaike P. Asperen, Christi J. Bodmer, danielle Ausems, Margreet G. E. M. van Os, Theo A. Blok, Marinus J. Meijers-Heijboer, Hanne E. J. Hogervorst, Frans B. L. Goldgar, David E. Buys, Saundra John, Esther M. Miron, Alexander Southey, Melissa Daly, Mary B. Harbst, Katja Borg, Ake Rantala, Johanna Barbany-Bustinza, Gisela Ehrencrona, Hans Stenmark-Askmalm, Marie Kaufman, Bella Laitman, Yael Milgrom, Roni Friedman, Eitan Domchek, Susan M. Nathanson, Katherine L. Rebbeck, Timothy R. Johannsson, Oskar Thor Couch, Fergus J. Wang, Xianshu Fredericksen, Zachary cuadras, daniel Moreno, Vctor Pientka, Friederike K. Depping, Reinhard Caldes, Trinidad Osorio, Ana Benitez, Javier Bueren, Juan Heikkinen, Tuomas Nevanlinna, Heli Hamann, Ute Torres, Diana Caligo, Maria Adelaide Godwin, Andrew K. Imyanitov, Evgeny N. Janavicius, Ramunas Sinilnikova, Olga M. Stoppa-Lyonnet, Dominique Mazoyer, Sylvie Verny-Pierre, Carole Castera, Laurent de Pauw, Antoine Bignon, Yves-Jean Uhrhammer, Nancy Peyrat, Jean-Philippe Vennin, Philippe IDIBELL Catalan Inst Oncol Biomed Res Ctr Network Epidemiol & Publ Hlth CIBE Lhospitalet Llobregat 08908 Spain Bellvitge Inst Biomed Res IDIBELL Catalan Inst Oncol Translat Res Lab Lhospitalet Llobregat 08908 Spain Univ Texas Hlth Sci Ctr San Antonio Sam & Ann Barshop Inst Longev & Aging Studies Dept Cellular & Struct Biol San Antonio TX 78245 USA IDIBELL Catalan Inst Oncol Biomarkers & Susceptibil Unit Lhospitalet Llobregat 08908 Spain Autonomous Univ Barcelona Dept Genet & Microbiol Bellaterra 08193 Spain Autonomous Univ Barcelona Biomed Res Ctr Network Rare Dis CIBERER Bellaterra 08193 Spain IDIBELL Catalan Inst Oncol Hereditary Canc Programme Lhospitalet Llobregat 08908 Spain Hosp Josep Trueta Girona Biomed Res Inst IdIBGi Catalan Inst Oncol Hereditary Canc Programme Girona 17007 Spain Inst Canc Res Sect Canc Genet Sutton SM2 5NG Surrey England Univ Wurzburg Dept Human Genet Biozentrum D-97074 Wurzburg Germany Univ Cambridge Ctr Canc Genet Epidemiol Dept Publ Hlth & Primary Care Strangeways Res Lab Cambridge CB1 8RN England Univ Cambridge Dept Oncol Ctr Canc Genet Epidemiol Strangeways Res Lab Cambridge CB1 8RN England Cent Manchester Univ Hosp NHS Fdn Trust St Marys Hosp Manchester Acad Hlth Sci Ctr Manchester M13 9LW Lancs England Inst Canc Res Oncogenet Team Sutton SM2 5NG Surrey England Royal Marsden NHS Fdn Trust Sutton SM2 5NG Surrey England Guys & St Thomas NHS Fdn Trust Guys Hosp Dept Clin Genet London SE1 9RT England St James Hosp Yorkshire Reg Genet Serv Leeds LS9 TF7 W Yorkshire England Ferguson Smith Ctr Clin Genet Glasgow G3 8SJ Lanark Scotland Birmingham Womens Hosp Healthcare NHS Trust W Midlands Reg Genet Serv Birmingham B15 2TG W Midlands England Sheffield Childrens Hosp Sheffield Clin Genet Serv Western Bank Sheffield S10 2TH S Yorkshire England Newcastle Upon Tyne Hosp NHS Trust Ctr Life Inst Human Genet Newcastle Upon Tyne NE1 4EP Tyne & Wear England Univ London St Georges Hosp Dept Clin Genet London S

Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, P-trend = 0.45 and 0.05, P-2df = 0.51 and 0.14, respectively;and rs10519219, P-trend = 0.92

关键词： Mutation Carrier Fanconi Anemia BRCA2 Mutation Carrier BrCa Prophylactic Oophorectomy

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Eigenanalysis on a bivariate covariance kernel

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JOURNAL OF MULTIVARIATE ANALYSIS 2008年第10期99卷 2497-2507页

作者： cuadras, Carles A. cuadras, daniel Univ Barcelona Dept Stat E-08028 Barcelona Spain

Certain constructions of copulas can be interpreted as an eigendecomposition of a kernel. We study some properties of the eigenfunctions and their integrals of a covariance kernel related to a bivariate distribution. The covariance between functions of random variables in terms of the cumulative distribution function is used. Some bounds for the trace of the kernel and some inequalities for a continuous random variable concerning a function and its derivative are obtained. We also obtain relations to diagonal expansions and canonical correlation analysis and, as a by-product, series of constants for some particular distributions. (C) 2008 Elsevier Inc. All rights reserved.

关键词： FGM family Eigenfunctions Hoeffding's lemma Inequalities for covariances Positive quadrant dependence Series of constants Canonical correlations

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A parametric approach to correspondence analysis

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LINEAR ALGEBRA AND ITS APPLICATIONS 2006年第1期417卷 64-74页

作者： cuadras, Carles M. cuadras, daniel Univ Barcelona Dept Stat E-08028 Barcelona Spain

We compare correspondence analysis (CA) and the alternative approach using Hellinger distance (HD), for representing categorical data in a contingency table. As both methods may be appropriate, we introduce a parameter and define a generalized version of correspondence analysis (GCA) which contains CA and HD as particular cases. Comparison with alternative approaches are performed. We propose a coefficient which globally measures the similarity between CA and GCA, which can be decomposed into several components, one component for each principal dimension, indicating the contribution of the dimensions on the difference between both representations. Two criteria for choosing the best value of the parameter are proposed. (c) 2005 Elsevier Inc. All rights reserved.

关键词： categorical data correspondence analysis Chi-square distance Hellinger distance weighted multidimensional scaling

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