WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome - Kim, Hyung-Goo; Ahn, Jang-Won; Kurth, Ingo; Ullmann, Reinhard; Kim, Hyun-Taek; Kulharya, Anita; Ha, Kyung-Soo; Itokawa, Yasuhide; Meliciani, Irene; Wenzel, Wolfgang; Lee, Deresa; Rosenberger, Georg; et al. (American journal of human genetics, 2010)
Keywords: Adolescent; Animals; Biological and medical sciences; Breakpoints; Chromosomes; Chromosomes, Human, Pair 10 - genetics; Endocrinopathies; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Homeodomain Proteins - genetics; Humans; Hypogonadism - genetics; Hypothalamus. Hypophysis. Epiphysis (diseases); Immunoblotting; Immunohistochemistry; Immunoprecipitation; In Situ Hybridization; In Situ Hybridization, Fluorescence; Kallmann Syndrome - genetics; Male; Medical genetics; Medical sciences; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Microarray Analysis; Molecular and cellular biology; Mutation; Mutation, Missense - genetics; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Polymorphism, Single Nucleotide - genetics; Proteins; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins - metabolism; Puberty; Puberty - genetics; Rats; Reverse Transcriptase Polymerase Chain Reaction; Transcription Factors - genetics; Translocation, Genetic - genetics; Two-Hybrid System Techniques; Zebrafish; Endocrinopathy; Human; Hypogonadotropic hypogonadism; Nervous system diseases; Hypothalamic diseases; Idiopathic; Kallmann syndrome; Protein; Genetic disease; Genital diseases; Cerebral disorder; Malformation; Central nervous system disease; ENT disease; Genetics; Transcription factor