A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

• Published in: PLoS genetics Vol. 10; no. 5; p. e1004359
• Main Authors: Cross, Sally H, Macalinao, Danilo G, McKie, Lisa, Rose, Lorraine, Kearney, Alison L, Rainger, Joe, Thaung, Caroline, Keighren, Margaret, Jadeja, Shalini, West, Katrine, Kneeland, Stephen C, Smith, Richard S, Howell, Gareth R, Young, Fiona, Robertson, Morag, van t' Hof, Rob, John, Simon W. M, Jackson, Ian J
• Format: Journal Article
• Language: English
• Published: San Francisco, USA Public Library of Science 01.05.2014
• Subjects: Biology and Life Sciences; Causes of; Defects; Experiments; Gene mutations; Genes; Genetic aspects; Genetic research; Genotype & phenotype; Glaucoma; Kidneys; Medical research; Mutation; Optic nerve; Proteins; Research and Analysis Methods; Studies; Transcription factors

Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploinsu...