Results 141 to 150 of about 75,040 (259)

The role of rare copy number variants in early‐onset depression

JCPP Advances, EarlyView.
Abstract Background Depression is a highly heterogeneous condition. Depression with an onset in childhood and early adolescence has a worse clinical course, is more heritable, and shows a lower genetic correlation with other depression subtypes, than does later‐onset depression.
Charlotte A. Dennison, Ida Sønderby, Miguel Garcia‐Argibay, Victoria Powell, Amy Shakeshaft, Lucy Riglin, Elliott Rees, Michael O’Donovan, Henrik Larsson, Ole Andreassen, Alexandra Havdahl, Joanna Martin, Anita Thapar   +12 more
wiley   +1 more source

Association of socioeconomic factors on mental health in children and young people with intellectual developmental disabilities of genetic origin

JCPP Advances, EarlyView.
Abstract Background Children and young people (CYP) with intellectual developmental disability (IDD) have a high prevalence of mental health and behavioural problems, which might be influenced by socioeconomical status as well as the severity of their disabilities.
Irene O. Lee, Jeanne Wolstencroft, Harriet Housby, Marianne B. M. van den Bree, Samuel J. R. A. Chawner, Jeremy Hall, Michael J. Owen, IMAGINE ID Consortium, David H. Skuse   +8 more
wiley   +1 more source

伴随性负变化(CNV)中心理因素之研究进展

, 1984
近年来,随着电子计算机技术的应用而出现的事件相关电位研究取得了很大进展,其中伴随性负变化(CNV)所含心理因素的分析研究在心理学界引起广泛的兴趣。CNV是由W、G、Walter等人于1964年发现的 ...
魏景汉
core  

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

WTAP‐Mediated m6A Modification of TXNDC5 mRNA Promotes Cervical Carcinogenesis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT WT1‐associated protein (WTAP), a core component of the methyltransferase complex, is involved in various tumor pathological processes, but its specific mechanism in cervical cancer (CC) remains unclear. This study, based on single‐cell transcriptomic data (including 3 CC and 2 normal tissues), constructed a CC microenvironment cell atlas ...
Ling Chen, Nuo‐Xin Hu, Zhao‐Ying Chen, Ke‐An Zhu, Wei Huang   +4 more
wiley   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Jianpi Huazhuo Formula Suppresses Choroidal Neovascularization by Modulating the AKT1/MAPK3/IL6 Axis. [PDF]

J Ophthalmol
Yang L, Zhang S, Han C.
europepmc   +1 more source

Immunohistochemistry as a tool for identifying PDGFRA amplification in central nervous system tumors. [PDF]

Brain Pathol
PDGFRA gene amplification is now recognized as a diagnostically and prognostically relevant molecular alteration in central nervous system tumors. Herein, we demonstrated that PDGFRA immunohistochemistry is a highly specific and sensitive biomarker for identifying PDGFRA amplification and should be part of the neuropathologist's routine panel of ...
Tauziède-Espariat A, Amargos G, Sassi F, Hasty L, Métais A, Varlet P.   +5 more
europepmc   +2 more sources

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Genetic Insights into the Comorbidity of Congenital Heart Disease and Neurodevelopmental Disorders: Focus on Copy Number Variations. [PDF]

J Cardiovasc Dev Dis
Ye Z, He Y, Guo J, Meng J, Xu Y, Wang Y, Wang B.   +6 more
europepmc   +1 more source