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

LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement

(2013) O. Boyer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy

(2013) Tsuyoshi Isojima et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

(2011) Gulab S. Zode et al.   JOURNAL OF CLINICAL INVESTIGATION

Glaucoma

(2011) Harry A Quigley   LANCET

Mouse genomic variation and its effect on phenotypes and gene regulation

(2011) Thomas M. Keane et al.   NATURE

Quaternary structure of the specific p53–DNA complex reveals the mechanism of p53 mutant dominance

(2011) Ricardo Aramayo et al.   NUCLEIC ACIDS RESEARCH

Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development

(2010) Jin-Xia Dai et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Lmx1b is required for murine trabecular meshwork formation and for maintenance of corneal transparency

(2010) Pu Liu et al.   DEVELOPMENTAL DYNAMICS

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

(2010) S. H. Cross et al.   HUMAN MOLECULAR GENETICS

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

(2008) Ernie M H F Bongers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS