Cargando…

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

BACKGROUND: Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before putative use for genetic counseling or preventive trials....

Descripción completa

Detalles Bibliográficos
Autores principales:	Schramm, Catherine, Charbonnier, Camille, Zaréa, Aline, Lacour, Morgane, Wallon, David, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Alarcon, Flora, Campion, Dominique, Nuel, Grégory, Nicolas, Gaël
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9238165/ https://www.ncbi.nlm.nih.gov/pubmed/35761418 http://dx.doi.org/10.1186/s13073-022-01070-6

Ejemplares similares

Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
por: Schramm, Catherine, et al.
Publicado: (2022)

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity
por: Louwersheimer, Eva, et al.
Publicado: (2017)

Modulation of APOE and SORL1 genes on hippocampal functional connectivity in healthy young adults
por: Shen, Junlin, et al.
Publicado: (2017)

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
por: Rovelet-Lecrux, Anne, et al.
Publicado: (2021)

Expression of SORL1 and a novel SORL1 splice variant in normal and Alzheimers disease brain
por: Grear, Karrie E, et al.
Publicado: (2009)

Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer’s disease risk gene SORL1
por: Lee, Hyo, et al.
Publicado: (2023)

Single-nucleotide polymorphisms of GSK3B, GAB2 and SORL1 in late-onset Alzheimer's disease: interactions with the APOE genotype
por: Izzo, Giselle, et al.
Publicado: (2013)

SORL1 Polymorphisms in Mexican Patients with Alzheimer’s Disease
por: Toral-Rios, Danira, et al.
Publicado: (2022)

SORL1 mutations in early- and late-onset Alzheimer disease
por: Cuccaro, Michael L., et al.
Publicado: (2016)

SORL1 mutation in a Greek family with Parkinson's disease and dementia
por: Xiromerisiou, Georgia, et al.
Publicado: (2021)

Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv
por: Alarcon, Flora, et al.
Publicado: (2023)

THE COMPARISON OF DUAL TASK TIME AMONG APOE CARRIERS AGAINST NON-APOE CARRIERS IN AGING ADULTS
por: Diehl, Cody, et al.
Publicado: (2022)

Impact of SORL1 genetic variations on MRI markers in non-demented elders
por: Yin, Rui-Hua, et al.
Publicado: (2016)

A genetically modified minipig model for Alzheimer’s disease with SORL1 haploinsufficiency
por: Andersen, Olav M., et al.
Publicado: (2022)

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
por: Husson, Thomas, et al.
Publicado: (2018)

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians
por: Miyashita, Akinori, et al.
Publicado: (2013)

The SORL1 Gene and Convergent Neural Risk for Alzheimer's Disease Across the Human Lifespan
por: Felsky, Daniel, et al.
Publicado: (2013)

Risk factor SORL1: from genetic association to functional validation in Alzheimer’s disease
por: Andersen, Olav M., et al.
Publicado: (2016)

The Alzheimer’s gene SORL1 is a regulator of endosomal traffic and recycling in human neurons
por: Mishra, Swati, et al.
Publicado: (2022)

SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports
por: Qiu, Guozhen, et al.
Publicado: (2021)

Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis
por: Alarcon, Flora, et al.
Publicado: (2018)

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
por: Husson, Thomas, et al.
Publicado: (2020)

SORL1 gene, plasma biomarkers, and the risk of Alzheimer’s disease for the Han Chinese population in Taiwan
por: Chou, Cheng-Ta, et al.
Publicado: (2016)

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians
por: Miyashita, Akinori, et al.
Publicado: (2013)

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene
por: Thonberg, Håkan, et al.
Publicado: (2017)

Expression of an alternatively spliced variant of SORL1 in neuronal dendrites is decreased in patients with Alzheimer’s disease
por: Monti, Giulia, et al.
Publicado: (2021)

Upregulated of ANXA3, SORL1, and Neutrophils May Be Key Factors in the Progressionof Ankylosing Spondylitis
por: Jiang, Jie, et al.
Publicado: (2022)

Glomerulopathic Light Chain-Mesangial Cell Interactions: Sortilin-Related Receptor (SORL1) and Signaling
por: Herrera, Guillermo A., et al.
Publicado: (2021)

Sex and APOE: A memory advantage in male APOE ε4 carriers in midlife
por: Zokaei, Nahid, et al.
Publicado: (2017)

Evaluating the use of Apo-neocarzinostatin as a cell penetrating protein
por: Moody, Paul, et al.
Publicado: (2013)

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer’s disease in the Han Chinese population
por: Zhang, Feng, et al.
Publicado: (2015)

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy
por: Holstege, Henne, et al.
Publicado: (2017)

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
por: Alvarez-Mora, Maria Isabel, et al.
Publicado: (2022)

SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network
por: Hung, Christy, et al.
Publicado: (2021)

Anxiety correlates with cortical surface area in subjective cognitive decline: APOE ε4 carriers versus APOE ε4 non-carriers
por: Sun, Yu, et al.
Publicado: (2019)

A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila
por: Feuillette, Sébastien, et al.
Publicado: (2020)

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease
por: Verheijen, Jan, et al.
Publicado: (2016)

Interaction between PPAR γ and SORL1 gene with Late-Onset Alzheimer’s disease in Chinese Han Population
por: Zhang, Hui, et al.
Publicado: (2017)

Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer’s disease in a multigenerational Colombian Family
por: Tejada Moreno, Johanna Alexandra, et al.
Publicado: (2022)

A familial missense variant in the Alzheimer’s Disease gene SORL1 impairs its maturation and endosomal sorting
por: Fazeli, Elnaz, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_5fgls6l4eg5it3fl1pjpl9um1o