[PDF][PDF] Estimating the number of diseases–the concept of rare, ultra-rare, and hyper-rare

CIE Smith, P Bergman, DW Hagey - Iscience, 2022 - cell.com
At the dawn of the personalized medicine era, the number of rare diseases has been
estimated at 10,000. By considering the influence of environmental factors together with …

The schizophrenia syndrome, circa 2024: What we know and how that informs its nature

R Tandon, H Nasrallah, S Akbarian… - Schizophrenia …, 2024 - Elsevier
With new data about different aspects of schizophrenia being continually generated, it
becomes necessary to periodically revisit exactly what we know. Along with a need to review …

[HTML][HTML] Widespread cortical thinning, excessive glutamate and impaired linguistic functioning in schizophrenia: A cluster analytic approach

L Liang, AM Silva, P Jeon, SD Ford… - Frontiers in human …, 2022 - frontiersin.org
Introduction Symptoms of schizophrenia are closely related to aberrant language
comprehension and production. Macroscopic brain changes seen in some patients with …

[HTML][HTML] Abnormal levels of mitochondrial Ca2+ channel proteins in plasma neuron-derived extracellular vesicles of early schizophrenia

EJ Goetzl, VH Srihari, M Mustapic… - … : official publication of …, 2022 - ncbi.nlm.nih.gov
Structural alterations or quantitative abnormalities of some mitochondrial ion channels and
exchangers are associated with altered neuronal functions and increased susceptibility to …

The 3-hit animal models of schizophrenia: improving strategy to decipher and treat the disease?

S Percelay, C Lahogue, JM Billard, T Freret… - Neuroscience & …, 2024 - Elsevier
Schizophrenia is a complex disease related to combination and interactions between
genetic and environmental factors, with an epigenetic influence. After the development of the …

Rare coding variants as risk modifiers of the 22q11. 2 deletion implicate postnatal cortical development in syndromic schizophrenia

JR Lin, Y Zhao, MR Jabalameli, N Nguyen, J Mitra… - Molecular …, 2023 - nature.com
Abstract 22q11. 2 deletion is one of the strongest known genetic risk factors for
schizophrenia. Recent whole-genome sequencing of schizophrenia cases and controls with …

Effect of polygenic risk score, family load of schizophrenia and exposome risk score, and their interactions, on the long-term outcome of first-episode psychosis

MJ Cuesta, S Papiol, B Ibañez, EG de Jalón… - Psychological …, 2023 - cambridge.org
BackgroundConsistent evidence supports the involvement of genetic and environmental
factors, and their interactions, in the etiology of psychosis. First-episode psychosis (FEP) …

Gene and schizophrenia in the pregenome and postgenome-wide association studies era: a bibliometric analysis and network visualization

WNA Zakaria, TH Sasongko, B Al-Rahbi… - Psychiatric …, 2023 - journals.lww.com
This study aimed to perform a bibliometric analysis on genetic studies in schizophrenia in
the pregenome-wide association studies (GWAS) and post-GWAS era. We searched the …

OXTR polymorphisms associated with severity and treatment responses of schizophrenia

X Lv, YS Hou, ZH Zhang, WH Yue - Schizophrenia, 2024 - nature.com
The mechanisms generating specific symptoms of schizophrenia remain unclear and
genetic research makes it possible to explore these issues at a fundamental level. Taking …

Influence of TMX2-CTNND1 polymorphism on cortical thickness in schizophrenia patients and unaffected siblings: an exploratory study based on target region …

W Tan, Y Cheng, D Huang, D Liu, J Zhang… - Brazilian Journal of …, 2024 - SciELO Brasil
Objective: The advancement of neuroimaging and genetic research has revealed the
presence of morphological abnormalities and numerous risk genes, along with their …