Plxnd1 Reference Search Result - Rat Genome Database

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RGD ID	Title	Citation	Abstract	PubMed	Pub Date
11054257	De novo mutations in PLXND1 and REV3L cause Mobius syndrome.	Tomas-Roca L, etal., Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199.	Mobius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Mobius in 1888, and it has been debated for ... (more) decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development: neural migration and DNA translesion synthesis, essential for the replication of endogenously damaged DNA, respectively. Interestingly, analysis of Plxnd1 and Rev3l mutant mice shows that disruption of these separate pathways converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation. The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients.	26068067	1000-04-01
598119247	Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.	Guimier A, etal., Hum Mol Genet. 2023 Jan 13;32(3):353-356. doi: 10.1093/hmg/ddac084.		35396997	2023-01-13