Nephronophthisis and Retinal Degeneration in Tmem218–/– Mice

Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen

(2014) H. A. Adissu et al.   Disease Models & Mechanisms

Does Kidney Disease Cause Hypertension?

(2013) Aldo J. Peixoto et al.   CURRENT HYPERTENSION REPORTS

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

(2012) Katharina Hopp et al.   JOURNAL OF CLINICAL INVESTIGATION

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

(2012) Rivka A. Rachel et al.   JOURNAL OF CLINICAL INVESTIGATION

The ciliary transition zone: from morphology and molecules to medicine

(2012) Peter G. Czarnecki et al.   TRENDS IN CELL BIOLOGY

Cryptogenic Organizing Pneumonia in Tomm5–/– Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

Amelogenesis Imperfecta and Other Biomineralization Defects in Fam20a and Fam20c Null Mice

(2012) P. Vogel et al.   VETERINARY PATHOLOGY

Ciliary signaling cascades in photoreceptors

(2012) Ozge Yildiz et al.   VISION RESEARCH

Senior–Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis

(2012) C.C. Ronquillo et al.   VISION RESEARCH

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

(2011) Lijia Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

(2011) Maha S. Zaki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Apoptosis in polycystic kidney disease

(2011) Béatrice Goilav   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency

(2011) K. V. Salojin et al.   BLOOD

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Exploring the elephant: histopathology in high-throughput phenotyping of mutant mice

(2011) P. N. Schofield et al.   Disease Models & Mechanisms

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

(2011) Artur V. Cideciyan et al.   HUMAN MOLECULAR GENETICS

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cardiomyopathy in α-Kinase 3 (ALPK3)–Deficient Mice

(2011) I. Van Sligtenhorst et al.   VETERINARY PATHOLOGY

Congenital Hydrocephalus in Genetically Engineered Mice

(2011) P. Vogel et al.   VETERINARY PATHOLOGY

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

(2010) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

The transcriptional programme of contact-inhibition

(2010) Monika Küppers et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

(2010) John F. O’Toole et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

(2010) E. A. Otto et al.   JOURNAL OF MEDICAL GENETICS

Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1

(2010) J. E. Westfall et al.   JOURNAL OF NEUROSCIENCE

A mouse knockout library for secreted and transmembrane proteins

(2010) Tracy Tang et al.   NATURE BIOTECHNOLOGY

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Mechanisms of Nephronophthisis and Related Ciliopathies

(2010) Toby W. Hurd et al.   NEPHRON EXPERIMENTAL NEPHROLOGY

Nephronophthisis

(2010) Matthias T. F. Wolf et al.   PEDIATRIC NEPHROLOGY

An Alternative Splicing Variant in Clcn7–/– Mice Prevents Osteopetrosis but Not Neural and Retinal Degeneration

(2010) I. Rajan et al.   VETERINARY PATHOLOGY

Tubulin Tyrosine Ligase–Like 1 Deficiency Results in Chronic Rhinosinusitis and Abnormal Development of Spermatid Flagella in Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

Histopathological and Neurological Features of Atg4b Knockout Mice

(2010) R. Read et al.   VETERINARY PATHOLOGY

Situs Inversus in Dpcd/Poll–/–, Nme7–/–, and Pkd1l1–/– Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

Polycystin-1 and -2 Dosage Regulates Pressure Sensing

(2009) Reza Sharif-Naeini et al.   CELL

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

(2009) R.W. Stottmann et al.   DEVELOPMENTAL BIOLOGY

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

(2009) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse

(2009) Si-Tse Jiang et al.   HUMAN MOLECULAR GENETICS

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

(2009) Rachaneekorn Tammachote et al.   HUMAN MOLECULAR GENETICS

A Mouse Model for Meckel Syndrome Type 3

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

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

(2009) Kálmán Tory et al.   KIDNEY INTERNATIONAL

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Incomplete Inhibition of Sphingosine 1-Phosphate Lyase Modulates Immune System Function yet Prevents Early Lethality and Non-Lymphoid Lesions

(2009) Peter Vogel et al.   PLoS One

Comparative Pathology of Murine Mucolipidosis Types II and IIIC

(2009) P. Vogel et al.   VETERINARY PATHOLOGY

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

(2008) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

(2008) G. M. Hansen et al.   GENOME RESEARCH

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

Non-Random Distribution and Sensory Functions of Primary Cilia in Vascular Smooth Muscle Cells

(2008) C.J. Lu et al.   KIDNEY & BLOOD PRESSURE RESEARCH

Nephronophthisis

(2008) Rémi Salomon et al.   PEDIATRIC NEPHROLOGY

Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice

(2008) P. Vogel et al.   VETERINARY PATHOLOGY