Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253955 | PMC |
| http://dx.doi.org/10.1016/j.ajhg.2007.09.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A prospective, multicenter analysis of the integrated 31-gene expression profile test for sentinel lymph node biopsy (i31-GEP for SLNB) test demonstrates reduced number of unnecessary SLNBs in patients with cutaneous melanoma.
World J Surg Oncol
January 2025
Summit Medical Group, Bend, OR, USA.
Background: National Comprehensive Cancer Network guidelines recommend sentinel lymph node biopsy (SLNB) for patients with > 10% risk of positivity, consider SLNB with 5-10% risk, and foregoing with < 5% risk. The integrated 31-gene expression profile (i31-GEP) algorithm combines the 31-GEP with clinicopathologic variables, estimating SLN positivity risk.
Methods: The i31-GEP SLNB risk prediction accuracy was assessed in patients with T1-T2 tumors enrolled in the prospective, multicenter DECIDE study (n = 322).
Machine learning based identification of an amino acid metabolism related signature for predicting prognosis and immune microenvironment in pancreatic cancer.
BMC Cancer
January 2025
Department of General Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Peking, Beijing, 100023, People's Republic of China.
Background: Pancreatic cancer is a highly aggressive neoplasm characterized by poor diagnosis. Amino acids play a prominent role in the occurrence and progression of pancreatic cancer as essential building blocks for protein synthesis and key regulators of cellular metabolism. Understanding the interplay between pancreatic cancer and amino acid metabolism offers potential avenues for improving patient clinical outcomes.
View Article and Find Full Text PDFTranscriptome and DNA methylation profiling during the NSN to SN transition in mouse oocytes.
BMC Mol Cell Biol
January 2025
Epigenetics Programme, Babraham Institute, Cambridge, CB22 3AT, UK.
Background: During the latter stages of their development, mammalian oocytes under dramatic chromatin reconfiguration, transitioning from a non-surrounded nucleolus (NSN) to a surrounded nucleolus (SN) stage, and concomitant transcriptional silencing. Although the NSN-SN transition is known to be essential for developmental competence of the oocyte, less is known about the accompanying molecular changes. Here we examine the changes in the transcriptome and DNA methylation during the NSN to SN transition in mouse oocytes.
View Article and Find Full Text PDFThe StbHLH47 transcription factor negatively regulates drought tolerance in potato (Solanum tuberosum L.).
BMC Plant Biol
January 2025
Agricultural College, Faculty of Agricultural College, Inner Mongolia Agricultural University, Hohhot, 010019, China.
Background: Drought stress is a major environmental constraint affecting crop yields. Plants in agricultural and natural environments have developed various mechanisms to cope with drought stress. Identifying genes associated with drought stress tolerance in potato and elucidating their regulatory mechanisms is crucial for the breeding of new potato germplasms.
View Article and Find Full Text PDFAneuploidy-driven gene expression profiling in human blastocysts: insights from RNA-Seq analysis.
J Assist Reprod Genet
January 2025
Medical Genetics Laboratory, Shiraz Fertility Center, Shiraz, Iran.
Purpose: Preimplantation aneuploidy in humans is one of the primary causes of implantation failure and embryo miscarriage. This study was conducted to gain insight into gene expression changes that may result from aneuploidy in blastocysts through RNA-Seq analysis.
Methods: The surplus embryos of preimplantation genetic testing for aneuploidy (PGT-A) candidate couples with normal karyotype and maternal age < 38 were collected following identical ovarian stimulation protocol.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!