Neural tube defects (NTDs) are severe malformations of the central nervous system that
arise from failure of neural tube closure. HECTD1 is an E3 ubiquitin ligase required for …

Closure of the cranial neural tube depends on normal development of the head
mesenchyme. Homozygous-mutant embryos for the ENU-induced open mind (opm) …

Hectd1 mutant mouse embryos exhibit the neural tube defect exencephaly associated with
abnormal cranial mesenchyme. Cellular rearrangements in cranial mesenchyme are …

Many aspects of the functional role of the E3 ubiquitin ligase Hectd1 in embryogenesis and
in cell biology still remain to be elucidated. In order to contribute to this task we now report …

Neural tube defects (NTDs) are severe malformations of the central nervous system that
affect 1–2 individuals per 2,000 births. Their etiology is complex and involves both genetic …

KCTD10 belongs to the KCTD (potassiumchannel tetramerization domain) family, many
members of which are associated with neuropsychiatric disorders. However, the biological …

Introduction CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused
by monoallelic pathogenic variants in CTCF. The first CTCF variants in CRD cases were …

Introduction: Neural tube defects (NTDs) are serious congenital malformations. The etiology
of NTDs involves both genetic and environmental factors. Loss of CECR2 in mice has been …

Abstract Background Neural tube defects (NTDs) are failure of neural tube closure, which
includes multiple central nervous system phenotypes. More than 300 mouse mutant strains …

Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has
been proposed to be due to a primary keratinocyte abnormality. Why it forms mainly at this …