WENQI CHEN^1,#, XIAOYANG CHU^2,#, YANG ZENG^3,#, YOUSHENG YAN⁴, YIPENG WANG⁴, DONGLAN SUN¹, DONGLIANG ZHANG⁵, JING ZHANG^1,*, KAI YANG^4,*

BIOCELL, Vol.47, No.7, pp. 1561-1569, 2023, DOI:10.32604/biocell.2023.028851 - 21 June 2023

Abstract Background: Receptor tyrosine kinase-like orphan receptor 2 (ROR2) has a vital role in osteogenesis. However, the mechanism underlying the regulation of ROR2 in osteogenic differentiation is still poorly comprehended. A previous study by our research group showed that a novel compound heterozygous ROR2 variation accounted for the autosomal recessive Robinow syndrome (ARRS). This study attempted to explore the impact of the ROR2: c.904C>T variant specifically on the osteogenic differentiation of BMSCs. Methods: Coimmunoprecipitation (CoIP)-western blotting was carried out to identify the interaction between ROR2 and Wnt5a. Double-immunofluorescence staining was used for determining the expressions and co-localization… More > Graphic Abstract

Ozlem OZ^*

Oncologie, Vol.22, No.3, pp. 155-160, 2020, DOI:10.32604/oncologie.2020.014087

Abstract Neurofibromatosis type 1 is an autosomal dominant disorder which is characterized by multiple café-au-lait spots in the body, intertriginous freckles, Lisch nodules, neurofibroma, optic glioma and bone dysplasia. One of the clinical characteristics of Neurofibromatosis type 1 is the risk of benign and malignant tumor development. Optic gliomas, a type of astrocytoma, are the most common central nervous system complication in children with Neurofibromatosis type 1 and are seen in 10–15% of cases. In this case report, a patient with an optic glioma and a mutation that was not previously identified in the NF1 gene More >

Fariborz Soheili^1,2, Zahra Jalili³, Mahtab Rahbar⁴, Zahed Khatooni¹, Amir Mashayekhi⁵, Hossein Jafari⁶

Congenital Heart Disease, Vol.13, No.2, pp. 295-304, 2018, DOI:10.1111/chd.12571

Abstract Background: The mutations in GATA4 gene induce inherited atrial and ventricular septation defects, which is the most frequent forms of congenital heart defects (CHDs) constituting about half of all cases.
Method: We have performed High resolution melting (HRM) mutation scanning of GATA4 coding exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57 ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group. Our samples are categorized according to their HRM graph. The genome sequencing has been done for 15 control samples and… More >