Roles and mechanisms of ankyrin-G in neuropsychiatric disorders

S Yoon, NH Piguel, P Penzes - Experimental & Molecular Medicine, 2022 - nature.com
Ankyrin proteins act as molecular scaffolds and play an essential role in regulating cellular
functions. Recent evidence has implicated the ANK3 gene, encoding ankyrin-G, in bipolar …

Differential impacts of Cntnap2 heterozygosity and Cntnap2 null homozygosity on axon and myelinated fiber development in mouse

C Cifuentes-Diaz, G Canali, M Garcia… - Frontiers in …, 2023 - frontiersin.org
Over the last decade, a large variety of alterations of the Contactin Associated Protein 2
(CNTNAP2) gene, encoding Caspr2, have been identified in several neuronal disorders …

[HTML][HTML] The Sigma-1 Receptor Exacerbates Cardiac Dysfunction Induced by Obstructive Nephropathy: A Role for Sexual Dimorphism

FJ Munguia-Galaviz, AG Miranda-Diaz… - Biomedicines, 2024 - mdpi.com
The Sigma-1 Receptor (Sigmar1) is a stress-activated chaperone and a promising target for
pharmacological modulation due to its ability to induce multiple cellular responses. Yet, it is …

Sex‐specific genetic architecture of late‐life memory performance

JM Eissman, DB Archer, S Mukherjee… - Alzheimer's & …, 2024 - Wiley Online Library
BACKGROUND Women demonstrate a memory advantage when cognitively healthy yet
lose this advantage to men in Alzheimer's disease. However, the genetic underpinnings of …

Genomics and transcriptomics landscapes associated to changes in insulin sensitivity in response to endurance exercise training

LY Takeshita, PK Davidsen, JM Herbert, P Antczak… - Scientific Reports, 2021 - nature.com
Despite good adherence to supervised endurance exercise training (EET), some individuals
experience no or little improvement in peripheral insulin sensitivity. The genetic and …

Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome

MF Elsaid, N Chalhoub, T Ben‐Omran… - Clinical …, 2018 - Wiley Online Library
We report a consanguineous Arab family with 3 affected siblings who display a disorder of
global developmental delay, learning difficulties, facial dysmorphism, hearing impairments …

Sex Differences in the Genetic Architecture of Cognition Among Older Adults Spanning the Alzheimer's Disease Clinical Spectrum

JM Eissman - 2023 - search.proquest.com
Females comprise two-thirds of Alzheimer's disease (AD) cases, and females have a twofold
increased lifetime risk for AD as compared to males. Furthermore, females have a higher AD …

Genome-wide association study of Alzheimer's disease brain imaging biomarkers and neuropsychological phenotypes in the EMIF-AD Multimodal Biomarker …

J Homann, T Osburg, O Ohlei, V Dobricic, L Deecke… - medRxiv, 2021 - medrxiv.org
Alzheimer's disease (AD) is the most frequent neurodegenerative disease with an
increasing prevalence in industrialized, ageing populations. AD susceptibility has an …

[PDF][PDF] Sporadik kolorektal kanser ile ilişkilendirilmiş aday genlerin incelenmesi

Ö Cumaoğullari - dspace.ankara.edu.tr
Kanser, sanayileşmenin artması ile dünya çapında önemli bir halk sağlığı problemi haline
gelmiştir. Kolorektal kanser (KRK) Dünya ve Türkiye genelinde kanserler arasında 3. sırada …

[引用][C] Chapitre 5. Raffinement de la cartographie des signaux d'étude d'association à l'échelle du génome pour identifier des marqueurs génétiques de la réponse …

BV Marcotte, F Guénard, S Lemieux, P Couture… - Approche intégrée de la …, 2021