This missense mutation had the potential to affect the DNA binding properties of the FOXA2 protein based on a protein structure prediction. Since a CPHD patient with another missense mutation and one other case with an entire gene deletion have also been reported, we speculated that a ...
Genet,20 1 1,2O( 17):3376—3385 . [10]Raile K Stobbe H,Trobs RB , et a1.A new heterozygous mutation of the foxl2 gene is associated w i tb a l ar ge ovari an cyst an d ovarian dy sfun ct ion in an adolescent girl w it h b lephar oph im osis/p tosis/ ...
additional novel FOXL2 gene mutations in Chinese patients with BPES . The I63T missense mutation was identified in family 1. Although family segregation analysis is not possible as neither of them has siblings, we believe that this is a pathogenic mutation ...
[2] Tang S,Wang X,Lin L,et al.Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome[J].Mutagenesis,2006,21(1):35-39. [3] Li W X,Wang X K,Sun Y,et al.A novel mutation in the FOXL2 gene in a Chinese family with ble...
Foxp2Distal lung epithelium.Type II epithelial cells of lung. Foxp4Proximal and distal lung epithelium.Proximal and distal lung epithelium. Table 2.Lung phenotypes inFoxknockout and transgenic mice. GenePhenotype of null (−/−) micePhenotype of transgenic mice ...
[2]Adriani M,Martinez-Mir A,Fusco F,et al. Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population[J]. Ann Hum Genet,2004,68:265-...
FOX12mutation causes BPES.Its mutations can be detected in POF patients.FOX13is consid⁃ered as an early regulator of ovarian development.In addition ，it has been suggested that mutations in FOXL2are relative to reproductive system tumors.【Key words 】 FOXL2gene ；BPES ；gene mutation ；...
FOXA1 is reported to be a commonly mutated gene in PCa [85]. What effect would its mutation have on the biological behavior of PCa? FOXA1 mutation induces AR reprogramming and transforming growth factor beta (TGF-β) pathway activation to promote EMT-driven cancer metastasis compared with wild...
Lymphedema-distichiasis syndrome and FOXC2 gene mutation PURPOSE: To describe the clinical characteristics of a family with autosomal dominant lymphedema-distichiasis syndrome and to report the results of analysi... EI Traboulsi,K Al-Khayer,M Matsumoto,... - 《American Journal of Ophthalmology》 ...
Mice with a targeted disruption of the Foxa-1 gene develop a complex catabolic phenotype that is characterized by persistent hypoglycemia, wasting, and neonatal mortality due to insufficient synthesis and secretion of glucagon (13, 14). Mice homologous for a null mutation in Foxa-2 develop an ...