NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

(2009) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions

(2009) Helen L. May-Simera et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A Mouse Model for Meckel Syndrome Type 3

(2009) S. A. Cook et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

(2008) A. C. Wiik et al.   GENOME RESEARCH

A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23ahl underlie the early onset, age-related hearing loss of DBA/2J mice

(2008) Kenneth R. Johnson et al.   GENOMICS

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

(2008) Kenji Sakamoto et al.   HUMAN MOLECULAR GENETICS

Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice

(2008) Si-Tse Jiang et al.   HUMAN MOLECULAR GENETICS

TheCaenorhabditis elegansnephrocystins act as global modifiers of cilium structure

(2008) Andrew R. Jauregui et al.   JOURNAL OF CELL BIOLOGY

Early steps in the assembly of photoreceptor ribbon synapses in the mouse retina: The involvement of precursor spheres

(2008) Hanna Regus-Leidig et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Urinary Concentration Defects and Mechanisms Underlying Nephronophthisis

(2008) Rajesh Krishnan et al.   KIDNEY & BLOOD PRESSURE RESEARCH

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

(2008) JUNGYEON WON et al.   VISUAL NEUROSCIENCE