☆ 4.7 Editorial Material

INTRAFAMILIAL DIVERSITY OF PHENOTYPE ASSOCIATED WITH APP DUPLICATION

NEUROLOGY (2008)

Journal

NEUROLOGY

Volume 71, Issue 23, Pages 1925-1926

Publisher

LIPPINCOTT WILLIAMS & WILKINS

DOI: 10.1212/01.wnl.0000339400.64213.56

Keywords

-

Categories

Clinical Neurology

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Clinical Neurology

Phenotype and imaging features associated with APP duplications

Lou Grangeon, Camille Charbonnier, Aline Zarea, Stephane Rousseau, Anne Rovelet-Lecrux, David Bendetowicz, Marion Lemaitre, Cecile Malrain, Muriel Quillard-Muraine, Kevin Cassinari, David Maltete, Jeremie Pariente, Olivier Moreaud, Eloi Magnin, Benjamin Cretin, Marie-Anne Mackowiak, Adeline Rollin Sillaire, Martine Vercelletto, Elsa Dionet, Olivier Felician, Pauline Rod-Olivieri, Catherine Thomas-Anterion, Gaelle Godeneche, Mathilde Sauvee, Leslie Cartz-Piver, Isabelle Le Ber, Valerie Chauvire, Therese Jonveaux, Anna-Chloe Balageas, Annie Laquerriere, Charles Duyckaerts, Anne Vital, Andre Maues de Paula, David Meyronet, Lucie Guyant-Marechal, Didier Hannequin, Elisabeth Tournier-Lasserve, Dominique Campion, Gael Nicolas, David Wallon

Summary: This study retrospectively analyzed the clinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families, and compared them to 40 APP-negative CAA controls. The findings showed that the phenotypes and imaging features of APP duplication carriers were heterogeneous and lacked correlation with duplication size, making them an interesting model for studying cerebral amyloid angiopathy (CAA).

ALZHEIMERS RESEARCH & THERAPY (2023)

Add to Collection

Review Biochemistry & Molecular Biology

τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations

Stefania Kalampokini, Despoina Georgouli, Eleni Patrikiou, Antonios Provatas, Varvara Valotassiou, Panagiotis Georgoulias, Cleanthe Spanaki, Georgios M. Hadjigeorgiou, Georgia Xiromerisiou

Summary: Mutations in the APP gene can cause autosomal dominant Alzheimer's disease, with mutations most commonly found in exons 17 and 16. Patients present with a variety of symptoms including dementia, visuospatial symptoms, aphasia, epilepsy, and psychiatric symptoms. Mutations in exon 17 are associated with high pathogenicity and a younger age of disease onset.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Add to Collection

Article Microbiology

Compositionally Aware Phylogenetic Beta-Diversity Measures Better Resolve Microbiomes Associated with Phenotype

Cameron Martino, Daniel McDonald, Kalen Cantrell, Amanda Hazel Dilmore, Yoshiki Vazquez-Baeza, Liat Shenhav, Justin P. Shaffer, Gibraan Rahman, George Armstrong, Celeste Allaband, Se Jin Song, Rob Knight

Summary: Microbiome data analysis is challenging due to the specific characteristics of sparsity and compositionality. Incorporating phylogenetic information into robust principal-component analysis and compositional tensor factorization methods significantly improves the discriminatory power of clustering and the classification accuracy. This strategy demonstrates improvements in effect size and clustering accuracy for both simulated and real microbiome data.

MSYSTEMS (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Degree of Functional Divergence in Duplicates Is Associated with Distinct Roles in Plant Evolution

Akihiro Ezoe, Kazumasa Shirai, Kousuke Hanada

Summary: Gene duplication is a major mechanism for creating new genes in plants, resulting in duplicated genes with varying degrees of functional diversification. High diversified duplicates from tandem duplications tend to have lineage-specific functions, while low diversified duplicates from whole-genome duplications are related to essential signaling pathways, impacting plant evolution differently.

MOLECULAR BIOLOGY AND EVOLUTION (2021)

Add to Collection

Article Biochemical Research Methods

DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning

Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, Katsuhiko Mineta, Taghrid Aloraini, Fuad Almutairi, Majid Alfadhel, Takashi Gojobori, Ahmad Alfares, Robert Hoehndorf

Summary: This study developed a computational method called DeepSVP to prioritize structural variants involved in genetic diseases by combining genomic and gene function information. By incorporating information about gene phenotypes, gene product functions, gene expression in different cell types and anatomical sites, and systematically linking them to phenotypic consequences, DeepSVP significantly improves the success rate of finding causative variants.

BIOINFORMATICS (2022)

Add to Collection

Article Plant Sciences

Genes derived from ancient polyploidy have higher genetic diversity and are associated with domestication in Brassica rapa

Xinshuai Qi, Hong An, Tara E. Hall, Chenlu Di, Paul D. Blischak, Michael T. W. McKibben, Yue Hao, Gavin C. Conant, J. Chris Pires, Michael S. Barker

Summary: The study found a close relationship between domestication and polyploidy in Brassica rapa crops, with genetic diversity derived from ancient polyploidy playing a key role in the domestication of B. rapa and supporting its importance in the success of modern agriculture.

NEW PHYTOLOGIST (2021)

Add to Collection

Article Psychiatry

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations

Yara Hussein, Utkarsh Tripathi, Ashwani Choudhary, Ritu Nayak, David Peles, Idan Rosh, Tatiana Rabinski, Jose Djamus, Gad David Vatine, Ronen Spiegel, Tali Garin-Shkolnik, Shani Stern

Summary: Autism Spectrum Disorder (ASD) is characterized by social and sensory-motor abnormalities and repetitive behaviors. This study focused on four specific gene mutations and a chromosomal duplication associated with ASD and found that mutant cortical neurons exhibited hyperexcitability and early maturation compared to control neurons. These findings suggest that early maturation and hyperexcitability may be common characteristics of ASD cortical neurons.

TRANSLATIONAL PSYCHIATRY (2023)

Add to Collection

Article Immunology

Intrafamilial Exposure to SARS-CoV-2 Associated with Cellular Immune Response without Seroconversion, France

Floriane Gallais, Aurelie Velay, Charlotte Nazon, Marie-Josee Wendling, Marialuisa Partisani, Jean Sibilia, Sophie Candon, Samira Fafi-Kremer

Summary: The study found that all confirmed COVID-19 patients had SARS-CoV-2 specific antibodies and T-cell responses lasting up to 102 days after symptom onset, while their contacts remained seronegative but 6 of them reported COVID-19 symptoms within a median of 7 days and 4 of them had positive SARS-CoV-2 specific T-cell responses lasting up to 93 days after infection.

EMERGING INFECTIOUS DISEASES (2021)

Add to Collection

Article Multidisciplinary Sciences

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

Elaine T. Lim, Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J. C. Tai, Songlei Liu, Julia M. Reichert, Mannix J. Burns, Ying Kai Chan, Jessica J. Chiang, Katharina Meyer, Xiaochang Zhang, Christopher A. Walsh, Bruce A. Yankner, Soumya Raychaudhuri, Joel N. Hirschhorn, James F. Gusella, Michael E. Talkowski, George M. Church

Summary: In this study, the authors utilize cerebral organoids for RNA sequencing and develop a framework, Orgo-Seq, to integrate bulk and single-cell RNA sequence data to identify cell type-specific driver genes in organoids derived from individuals with autism spectrum disorder.

NATURE COMMUNICATIONS (2022)

Add to Collection

Article Genetics & Heredity

Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations

F. M. Jabato, Pedro Seoane, James R. Perkins, Elena Rojano, Adrian Garcia Moreno, M. Chagoyen, Florencio Pazos, Juan A. G. Ranea

Summary: CNV-related disorders often exhibit complex phenotypic profiles that do not match known diseases, making it difficult to determine their underlying molecular basis. A novel approach presented here aims to associate phenotypes with functional systems by analyzing genomic regions for patients with similar phenotypes and finding commonalities. By mapping these regions to genes, important connections between phenotypes and functional systems can be identified, revealing potential disease links that may have gone unnoticed when considering individual cases.

HUMAN GENETICS (2021)

Add to Collection

Article Biology

Variable paralog expression underlies phenotype variation

Raisa Bailon-Zambrano, Juliana Sucharov, Abigail Mumme-Monheit, Matthew Murry, Amanda Stenzel, Anthony T. Pulvino, Jennyfer M. Mitchell, Kathryn L. Colborn, James T. Nichols

Summary: By analyzing the zebrafish mef2ca mutant, this study investigated craniofacial variation and its buffering mechanisms. Selective breeding for high and low expression of transcription factor mef2ca paralogs revealed that variable paralog expression underlies mutant phenotype severity and variation. The research suggests a novel mechanistic model where vestigial paralog expression buffers development.

ELIFE (2022)

Add to Collection

Article Neurosciences

Linking the phenotype of SNCA Triplication with PET-MRI imaging pattern and alpha-synuclein CSF seeding

Isabel Wurster, Corinne Quadalti, Marcello Rossi, Ann-Kathrin Hauser, Christian Deuschle, Claudia Schulte, Katharina Waniek, Ingolf Lachmann, Christian la Fougere, Kathrin Doppler, Thomas Gasser, Benjamin Bender, Piero Parchi, Kathrin Brockmann

Summary: A family with SNCA triplication was identified, with the patient showing early onset, motor impairment, prominent non-motor symptoms, significantly elevated CSF α-Syn levels, and remarkable alpha-Syn seeding activity. PET-MRI revealed hypometabolism and atrophy in the brain, supporting the association between overexpression of α-Syn and PD.

NPJ PARKINSONS DISEASE (2022)

Add to Collection

Article Multidisciplinary Sciences

Micro and macroevolution of sea anemone venom phenotype

Edward G. G. Smith, Joachim M. M. Surm, Jason Macrander, Adi Simhi, Guy Amir, Maria Y. Y. Sachkova, Magda Lewandowska, Adam M. M. Reitzel, Yehu Moran

Summary: The authors compare toxin expression across sea anemone species and find variation in dominant toxin diploid copy number, generating distinct haplotypes. Venom is a complex trait with substantial inter- and intraspecific variability resulting from strong selective pressures. However, the understanding of underlying toxin expression dynamics and the determination of venom phenotype remains unresolved.

NATURE COMMUNICATIONS (2023)

Add to Collection

Article Medicine, Research & Experimental

Regulation of PPARα by APP in Alzheimer disease affects the pharmacological modulation of synaptic activity

Francisco Saez-Orellana, Thomas Leroy, Floriane Ribeiro, Anna Kreis, Karelle Leroy, Fanny Lalloyer, Eric Bauge, Bart Staels, Charles Duyckaerts, Jean-Pierre Brion, Philippe Gailly, Jean-Noel Octave, Nathalie Pierrot

Summary: This study found a possible correlation between lipid metabolism and the onset of Alzheimer's disease. Activation of PPAR alpha showed improvement in synaptic plasticity in AD cases and was inversely related to APP expression. The association was reversed in the case of APP silencing, indicating the key role of PPAR alpha in synaptic activity control.

JCI INSIGHT (2021)

Add to Collection

Article Cardiac & Cardiovascular Systems

Brugada syndrome genetics is associated with phenotype severity

Giuseppe Ciconte, Michelle M. Monasky, Vincenzo Santinelli, Emanuele Micaglio, Gabriele Vicedomini, Luigi Anastasia, Gabriele Negro, Valeria Borrelli, Luigi Giannelli, Francesca Santini, Carlo de Innocentiis, Roberto Rondine, Emanuela T. Locati, Andrea Bernardini, Beniamino C. Mazza, Valerio Mecarocci, Zarko Calovic, Andrea Ghiroldi, Sara D'Imperio, Sara Benedetti, Chiara Di Resta, Ilaria Rivolta, Giorgio Casari, Enrico Petretto, Carlo Pappone

Summary: In Brugada syndrome, the genetic background is the main determinant for the extent of electrophysiological abnormalities. Carriers of SCN5A mutations exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation.

EUROPEAN HEART JOURNAL (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Glutamate controls vessel-associated migration of GABA interneurons from the pial migratory route via NMDA receptors and endothelial protease activation

Cecile Leger, Nicolas Dupre, Caroline Aligny, Magalie Benard, Alexis Lebon, Vincent Henry, Michelle Hauchecorne, Ludovic Galas, Thierry Frebourg, Philippe Leroux, Denis Vivien, Maryline Lecointre, Stephane Marret, Bruno J. Gonzalez

CELLULAR AND MOLECULAR LIFE SCIENCES (2020)

Add to Collection

Article Oncology

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Laetitia Meulemans, Romy L. S. Mesman, Sandrine M. Caputo, Sophie Krieger, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Melanie Leone, Nadia Boutry-Kryza, Johanna Sokolowska, Francoise Revillion, Capucine Delnatte, Helene Tubeuf, Omar Soukarieh, Francoise Bonnet-Dorion, Virginie Guibert, Myriam Bronner, Violaine Bourdon, Sarab Lizard, Paul Vilquin, Maud Privat, Aurelie Drouet, Charlotte Grout, Fabienne M. G. R. Calleja, Lisa Golmard, Harry Vrieling, Dominique Stoppa-Lyonnet, Claude Houdayer, Thierry Frebourg, Maaike P. G. Vreeswijk, Alexandra Martins, Pascaline Gaildrat

CANCER RESEARCH (2020)

Add to Collection

Article Genetics & Heredity

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

Francois Lecoquierre, Anne-Claire Brehin, Sophie Coutant, Juliette Coursimault, Anne Bazin, Wilfrid Finck, Guillaume Benoist, Marianne Begorre, Claire Beneteau, Daniel Cailliez, Pierre Chenal, Mirjam De Jong, Sophie Degre, Louise Devisme, Christine Francannet, Benedicte Gerard, Corinne Jeanne, Madeleine Joubert, Hubert Journel, Helene Laurichesse Delmas, Valerie Layet, Alain Liquier, Raphaele Mangione, Sophie Patrier, Fanny Pelluard, Florence Petit, Nadia Tillouche, Conny Van Ravenswaaij-Arts, Thierry Frebourg, Pascale Saugier-Veber, Nicolas Gruchy, Gael Nicolas, Marion Gerard

HUMAN MUTATION (2020)

Add to Collection

Article Neurosciences

Moderate Overexpression of Tau in Drosophila Exacerbates Amyloid-β-Induced Neuronal Phenotypes and Correlates with Tau Oligomerization

Laetitia Miguel, Thierry Frebourg, Dominique Campion, Magalie Lecourtois

JOURNAL OF ALZHEIMERS DISEASE (2020)

Add to Collection

Article Genetics & Heredity

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome

Qing Wang, Julie Leclerc, Gaelle Bougeard, Sylviane Olschwang, Stephanie Vasseur, Kevin Cassinari, Denis Boidin, Cedrick Lefol, Pierre Naibo, Thierry Frebourg, Marie Pierre Buisine, Stephanie Baert-Desurmont

JOURNAL OF MEDICAL GENETICS (2020)

Add to Collection

Article Psychiatry

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson, Francois Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valerie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Geraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-Francois Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion

TRANSLATIONAL PSYCHIATRY (2020)

Add to Collection

Article Neurosciences

A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila

Sebastien Feuillette, Camille Charbonnier, Thierry Frebourg, Dominique Campion, Magalie Lecourtois

FRONTIERS IN NEUROSCIENCE (2020)

Add to Collection

Article Biochemistry & Molecular Biology

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

Add to Collection

Article Oncology

High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome

Laura Mezquita, Maria Jove, Ernest Nadal, Maria Kfoury, Teresa Moran, Charles Ricordel, Marion Dhooge, Camille Tlemsani, Herve Lena, Alex Teule, Jose-Valero Alvarez, Judith Raimbourg, Sandrine Hiret, Ludovic Lacroix, Mireia Menendez, Juana Saldana, Joan Brunet, Pilar Lianes, Isabelle Coupier, Edouard Auclin, Gonzalo Recondo, Luc Friboulet, Julien Adam, Emma Green, David Planchard, Thierry Frebourg, Gabriel Capella, Etienne Rouleau, Conxi Lazaro, Olivier Caron, Benjamin Besse

JOURNAL OF THORACIC ONCOLOGY (2020)

Add to Collection

Article Oncology

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Helene Tubeuf, Sandrine M. Caputo, Teresa Sullivan, Julie Rondeaux, Sophie Krieger, Virginie Caux-Moncoutier, Julie Hauchard, Gaia Castelain, Alice Fievet, Laetitia Meulemans, Francoise Revillion, Melanie Leone, Nadia Boutry-Kryza, Capucine Delnatte, Marine Guillaud-Bataille, Linda Cleveland, Susan Reid, Eileen Southon, Omar Soukarieh, Aurelie Drouet, Daniela Di Giacomo, Myriam Vezain, Francoise Bonnet-Dorion, Violaine Bourdon, Helene Larbre, Daniele Muller, Pascal Pujol, Fatima Vaz, Severine Audebert-Bellanger, Chrystelle Colas, Laurence Venat-Bouvet, Angela R. Solano, Dominique Stoppa-Lyonnet, Claude Houdayer, Thierry Frebourg, Pascaline Gaildrat, Shyam K. Sharan, Alexandra Martins

CANCER RESEARCH (2020)

Add to Collection

Article Biochemistry & Molecular Biology

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Olivier Quenez, Kevin Cassinari, Sophie Coutant, Francois Lecoquierre, Kilan Le Guennec, Stephane Rousseau, Anne-Claire Richard, Stephanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vezain, Pascal Chambon, Geraldine Joly-Helas, Nathalie Le Meur, Mathieu Castelain, Anne Boland, Jean-Francois Deleuze, Isabelle Tournier, Francoise Charbonnier, Edwige Kasper, Gaelle Bougeard, Thierry Frebourg, Pascale Saugier-Veber, Stephanie Baert-Desurmont, Dominique Campion, Anne Rovelet-Lecrux, Gael Nicolas

Summary: The study evaluated the performance of a workflow centered on CANOES for CNV detection in GP and WES data, achieving high PPV in both datasets. By using the CANOES-centered workflow on WES data, CNVs could be detected with single-exon resolution, improving detection accuracy.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

Add to Collection

Letter Biochemistry & Molecular Biology

Reply to Kratz et al.

Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

Add to Collection

Article Genetics & Heredity

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements

Helene Tubeuf, Camille Charbonnier, Omar Soukarieh, Andre Blavier, Arnaud Lefebvre, Helene Dauchel, Thierry Frebourg, Pascaline Gaildrat, Alexandra Martins

HUMAN MUTATION (2020)

Add to Collection

Article Genetics & Heredity

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism

Cecile Saint-Martin, Marine Cauchois-Le Miere, Emily Rex, Omar Soukarieh, Jean-Baptiste Arnoux, Julien Buratti, Delphine Bouvet, Thierry Frebourg, Pascaline Gaildrat, Show-Ling Shyng, Christine Bellanne-Chantelot, Alexandra Martins

Summary: The study explored the impact of 13 ABCC8 variants on RNA splicing in 20 CHI patients through bioinformatics analysis and cell-based minigene assays. Out of the analyzed variants, some were classified as recessive pathogenic due to inducing out-of-frame splicing defects, while others led to skipping of in-frame exons. The research highlights the value of combining RNA and protein functional approaches in variant interpretation and reveals the minigene splicing assay as a new tool for CHI molecular diagnostics.

HUMAN MUTATION (2021)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.