Hypertelorism of Efnb1 Null Mice Occurs Independently of Changes to Underlying Brain Shape
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چکیده
منابع مشابه
Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice
Familial hypertelorism, characterized by widely spaced eyes, classically shows autosomal dominant inheritance (Teebi type), but some pedigrees are compatible with X-linkage. No mechanism has been described previously, but clinical similarity has been noted to craniofrontonasal syndrome (CFNS), which is caused by mutations in the X-linked EFNB1 gene. Here we report a family in which females in t...
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Voltage-gated Na(+) channel (VGSC) β1 subunits, encoded by SCN1B, are multifunctional channel modulators and cell adhesion molecules (CAMs). Mutations in SCN1B are associated with the genetic epilepsy with febrile seizures plus (GEFS+) spectrum disorders in humans, and Scn1b-null mice display severe spontaneous seizures and ataxia from postnatal day (P)10. The goal of this study was to determin...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2019
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fasebj.2019.33.1_supplement.77.3