Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients with Coarctation of the Aorta.
Nantes, France. In Circ Cardiovasc Genet, Jan 2016
We identified 113 candidate genes for CHD within these CNVs, including BTRC, CHRNB3, CSRP2BP, ERBB2, ERMARD, GLIS3, PLN, PTPRJ, RLN3 and TCTE3.
Association of type 2 diabetes GWAS loci and the risk of Parkinson's and Alzheimer's diseases.
Seoul, South Korea. In Parkinsonism Relat Disord, Dec 2015
We selected 32 genetic variants from 11 genes (CDC123, CDKAL1, CDKN2B, FTO, GLIS3, HHEX, IGF2BP2, KCNJ11, KCNQ1, SLC30A8, and TCF7L2) and intergenic regions based on results of recent genome-wide association studies (GWAS) in T2DM.
Heterogeneous phenotype in children affected by non-autoimmune hypothyroidism: an update.
Milano, Italy. In J Endocrinol Invest, Aug 2015
Finally, an increased prevalence of hypothyroidism has been documented in obese children and patients with syndromic forms (Williams, Down, Turner, pseudohypoparathyroidism). The clinical and molecular phenotype of patients with CH will be better defined thanks to novel genetic approach based on the systematic analysis of a panel of genes (TSHR, DUOX2, DUOXA, TPO, PDS, TG, NKX2.1, JAG1, GLIS3, FOXE1, PAX-8).
Apoptosis of beta cells in diabetes mellitus.
Hyderābād, India. In Dna Cell Biol, 2014
The other gene products that are involved in diabetes are nitric oxide synthase-2 (NOS2), small ubiquitin-like modifier (SUMO), apolipoprotein CIII (ApoCIII), forkhead box protein O1 (FOXO1), and Kruppel-like zinc finger protein Gli-similar 3 (GLIS3).
Diagnosis of neonatal and infancy-onset diabetes.
Roma, Italy. In Endocr Dev, 2006
In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and 'mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.