Publications by authors named "Benmansour Abdelmajid"
Article Synopsis
- Holoprosencephaly (HPE) is the leading congenital brain defect, resulting from improper forebrain development and linked to facial deformities, with significant variability in its clinical presentation and genetic causes.
- A targeted next-generation sequencing study of 257 HPE patients revealed that about 24% had harmful mutations, while 10% had variants with unclear impacts, advancing our understanding of HPE genetics.
- The research identified major genes associated with HPE, including SHH, ZIC2, and SIX3, and highlighted the importance of fibroblast growth factor signaling in the condition, suggesting that multiple genetic factors may contribute to its inheritance.
Defects leading to impaired intracellular trafficking have recently been shown to play an important role in the pathogenesis of genodermatoses, such as the Ehlers-Danlos and the cutis laxa syndromes. A new genodermatosis, termed macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome has been described, resulting from a homozygous 1-bp deletion in RIN2. RIN2 encodes the Ras and Rab interactor 2, involved in the regulation of Rab5-mediated early endocytosis.
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