Hane Lee
Study Coordinator
Institution:
Nelson Lab
Los Angeles, CA, United States
https://www.mysciencework.com/profile/hane.lee
Summary
Published articles Show More
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
...Published in Nature Genetics
Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell popul...
Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
Published in Neurology
We studied a family with nonprogressive congenital ataxia (NPCA) previously reported in 1985. Follow-up evaluation documented a nonprogressive course. Older family members developed ataxic spells and vertical oscillopsia triggered by stress and exercise. Linkage analysis using a 10K single-nucleotide polymorphism array found suggestive linkage to f...
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.
Published in The American Journal of Human Genetics
Premature ovarian failure (POF) is characterized by elevated gonadotropins and amenorrhea in women aged <40 years. In a Lebanese family with five sisters who received the diagnosis of POF, we established linkage to the long arm of the X chromosome (between Xq21.1 and Xq21.3.3), using whole-genome SNP typing and homozygosity-by-descent mapping. By s...
