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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
TREX1, encoding the major mammalian 3′ → 5′ DNA exonuclease, is the AGS1 gene, and AGS-causing mutations result in abrogation of TREX1 enzyme activity, and failure of which results in the triggering of an abnormal innate immune response.
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
It is shown here that Gli2 mutant mice exhibit severe skeletal abnormalities including cleft palate, tooth defects, absence of vertebral body and intervertebral discs, and shortened limbs and sternum.
Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1.
Results strongly indicate that SIM1 functions upstream to maintain Brn2 expression, which in turn directs the terminal differentiation of specific neuroendocrine lineages within the PVN/SON.
The mouse Engrailed-1 gene and ventral limb patterning
It is reported that Engrailed-1, a homeodomain-containing transcription factor expressed in embryonic ventral limb ectoderm7–8, is essential forventral limb patterning and isessential for proper formation of the apical ectodermal ridge.
G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex
It is shown that mutations in GPR56, which encodes an orphan G protein–coupled receptor with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP).
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
NRXN2 disruption to the pathogenesis of ASD is linked for the first time and the involvement of NRXN1 in SCZ is strengthened, supporting the notion of a common genetic mechanism in these disorders.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
It is shown that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, and these findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis.