Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2972616 | PMC |
| http://dx.doi.org/10.1590/s1807-59322010001000024 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.
Nat Immunol
December 2024
Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan.
Genetic studies in mice have shown that the zinc finger transcription factor BCL11B has an essential role in regulating early T cell development and neurogenesis. A de novo heterozygous missense BCL11B variant, BCL11B, was isolated from a patient with T cell deficiency and neurological disorders. Here, we show that mice harboring the corresponding Bcl11b mutation show the emergence of natural killer (NK)/group 1 innate lymphoid cell (ILC1)-like NKp46 cells in the thymus and reduction in TBR1 neurons in the neocortex, which are observed with loss of Bcl11a but not Bcl11b.
View Article and Find Full Text PDFCrystal structures of the armadillo repeat domain of adenomatous polyposis coli and its complex with the tyrosine-rich domain of Sam68.
Structure
October 2011
RIKEN Systems and Structural Biology Center, 1-7-22 Suehiro-cho, Tsurumi, Yokohama 230-0045, Japan.
Adenomatous polyposis coli (APC) is a tumor suppressor protein commonly mutated in colorectal tumors. APC plays important roles in Wnt signaling and other cellular processes. Here, we present the crystal structure of the armadillo repeat (Arm) domain of APC, which facilitates the binding of APC to various proteins.
View Article and Find Full Text PDFIdentification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).
Hum Mutat
May 2005
Klinik für Kinder- und Jugendmedizin, Technische Universität Dresden, Dresden, Germany.
Maturity-onset diabetes of the young is a genetically heterogeneous autosomal dominant form of diabetes mellitus, characterized by an early age at onset and a primary defect in beta-cell function. Forty families with a clinical presentation suggestive of MODY were screened for the most common MODY subtypes caused by mutations in the genes encoding glucokinase (GCK, MODY2) and hepatocyte nuclear 1-alpha (HNF1A/TCF1, MODY3). Overall, 14 mutations were found (35%) giving a relative frequency of 22.
View Article and Find Full Text PDFBi-allelic inactivation of TCF1 in hepatic adenomas.
Nat Genet
October 2002
Inserm U434, Fondation Jean Dausset, 27 rue Juliette Dodu, 75010 Paris, France.
Article Synopsis
- Liver adenomas are benign tumors that can turn malignant, and researchers discovered a specific deletion in chromosome 12q in several adenomas.
- This deletion targets a region associated with the TCF1 gene, which is linked to a form of diabetes, suggesting that TCF1 may act as a tumor-suppressor gene.
- The study found that inactivation of TCF1 is a significant genetic factor in liver adenoma development and could be an early indicator for some cases of hepatocellular carcinoma (HCC).
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!