Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the FGFR2 gene, determining a missense mutation. FGFR2 encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of FGFR2 on neurodevelopment. Our findings provide new insights into the potential causative role of FGFR2 gene in complex neurodevelopmental disorders.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10721674 | PMC |
| http://dx.doi.org/10.1007/s12017-023-08759-w | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gene actionability according to the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) in No Specific Molecular Profile (NSMP) endometrial cancer.
ESMO Open
September 2025
Unit of Oncological Gynecology, Women's Children's and Public Health Department, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: https://twitter.com/camillanero.
Background: The No Specific Molecular Profile (NSMP) subtype accounts for ∼30%-40% of endometrial cancer (EC), comprising a heterogeneous group of EC.
Patients And Methods: The primary outcome of this study was the prevalence of actionable genomic alterations in NSMP EC, classified according to the European Society for Medical Oncology (ESMO) Scale for Clinical Actionability of molecular Targets (ESCAT). Oncogenic and likely oncogenic alterations, pathways, and co-mutation patterns were reported.
Identification of candidate gene networks affecting the number of somatic cells count and milk production in Iranian Holstein cows using Genome-wide association study.
Sci Rep
September 2025
Department of Animal Science, College of Agriculture and Natural Resources, University of Tehran, Karaj, Iran.
One of the most powerful tools for identifying genomic regions associated with various phenotypes is GWAS. Identifying genes influencing milk production traits in Iranian Holstein dairy cows is crucial to understanding the genetic mechanisms underlying these traits and improving future milk production. Therefore, using a single-step GWAS, this study aimed to identify genomic regions, genes, and pathways associated with milk yield (MY), milk fat percentage (FP), milk protein percentage (PP), and somatic cell count (SCC) traits in the Iranian Holstein cattle population.
View Article and Find Full Text PDFSpatial heterogeneity of FGFR2b in gastric cancer: a comparative analysis of primary tumors and peritoneal dissemination.
Virchows Arch
August 2025
Department of Pathology, Graduate School of Medicine, the University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, 113-0033, Tokyo, Japan.
Gastric cancer with peritoneal dissemination (PD) confers poor prognosis and limited treatment options. FGFR2b-targeted therapy has emerged as a potential approach for FGFR2b-positive tumors. However, the expression and amplification status of FGFR2b in PD remains poorly characterized.
View Article and Find Full Text PDFSynergistic Anticancer Effects of Fibroblast Growth Factor Receptor Inhibitor and Cannabidiol in Colorectal Cancer.
Nutrients
August 2025
Division of Colon and Rectal Surgery, Department of Surgery, Korea University Guro Hospital, Korea University College of Medicine, Seoul 08308, Republic of Korea.
Background/objectives: Colorectal cancer (CRC) remains a significant global health concern, with limited treatment options for metastatic stage 4 CRC. Fibroblast Growth Factor Receptor (FGFR) is a promising therapeutic target in CRC, while cannabidiol (CBD) has shown potential for inducing cell death and overcoming drug resistance. This study evaluates the efficacy of FGFR inhibitors and explores the synergistic effects of combining FGFR inhibitors with CBD in inducing apoptosis in CRC cells.
View Article and Find Full Text PDFGenomic Alterations and Microbiota Crosstalk in Hepatic Cancers: The Gut-Liver Axis in Tumorigenesis and Therapy.
Genes (Basel)
July 2025
Cell and Tissue Biology Group, Anatomy and Cell Biology Department, University of Cantabria-IDIVAL, 39011 Santander, Spain.
Hepatic cancers, including hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA), are major global health concerns due to rising incidence and limited therapeutic success. While traditional risk factors include chronic liver disease and environmental exposures, recent evidence underscores the significance of genetic alterations and gut microbiota in liver cancer development and progression. This review aims to integrate emerging knowledge on the interplay between host genomic changes and gut microbial dynamics in the pathogenesis and treatment of hepatic cancers.
View Article and Find Full Text PDF