Huang, Lijia

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. [electronic resource] - American journal of human genetics Dec 2011 - 713-30 p. digital

Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2011.11.005 doi


Abnormalities, Multiple
Adult
Animals
Bardet-Biedl Syndrome--genetics
Caenorhabditis elegans--genetics
Case-Control Studies
Cell Line
Cerebellar Diseases--genetics
Cerebellum--abnormalities
Child
Child, Preschool
Chromosome Mapping
Cilia--genetics
Eye Abnormalities--genetics
Female
Gene Expression
Gene Knockdown Techniques
Gene Knockout Techniques
Genetic Association Studies
Haplotypes
Humans
Infant
Infant, Newborn
Kidney Diseases, Cystic--genetics
Male
Membrane Proteins--genetics
Mice
Microscopy, Electron, Transmission
Multiprotein Complexes--metabolism
Mutation
Polymorphism, Single Nucleotide
Retina--abnormalities
Sequence Analysis, DNA
Wnt Proteins--metabolism
Wnt Signaling Pathway
Zebrafish--embryology