06-P006 Use of stem cells to identify novel signaling pathways and candidate genes associated with Non-Syndromic Cleft Lip and Palate (NSCL/P)
نویسندگان
چکیده
ing the duplication generates increased levels of EFNB1 transcript, compared to the normal chromosome. We also show that imbalance of ephrin-B1 between X chromosomes in a mouse model containing a hypomorphic Efnb1 conditional allele results in aberrant cell mixing of the cranial primordia during development and hypertelorism. Taken together these data suggest that cellular mosaicism for different levels of ephrin-B1 (as well as simple presence/absence) is an important contributor to craniofacial abnormalities in humans and mice.
منابع مشابه
Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing
BACKGROUND Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. MATERIAL AND METHODS Whole-exome sequencing (WES) was performed in 8 fetus...
متن کاملSusceptibility to DNA Damage as a Molecular Mechanism for Non-Syndromic Cleft Lip and Palate
Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic prof...
متن کاملAssociation of polymorphisms of IRF6 to non-syndromic cleft lip with or without palate in a Guangdong population
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common birth defect. The gene interferon regulatory factor 6 (IRF6) is the most studied candidate-cause of clefts of the lip, palate, or both. Variations of IRF6 are associated with ethnicity. We investigated the presence of 8 tag SNPs of IRF6 in residents of Guangdong province: 126 patients with NSCL/P (29 with cleft lip...
متن کاملAssociation of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
The aetiology of non-syndromic cleft lip with or without cleft palate (NSCL/P) is complex involving multiple interacting genes and environmental factors. The primary objective of the present study was to investigate the role of TFAP2A gene single nucleotide polymorphisms (SNPs) in the pathogenesis of NSCL/P. In this study, 173 unrelated NSCL/P patients and 176 controls without clefts were genot...
متن کاملElectrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate
OBJECTIVES Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should no...
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عنوان ژورنال:
- Mechanisms of Development
دوره 126 شماره
صفحات -
تاریخ انتشار 2009