List of works - Friedhelm Hildebrandt

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

scientific article

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

scientific article

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

scientific article (publication date: August 2003)

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

scientific article

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

scientific article

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

scientific article

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

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

scientific article

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

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

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

scientific article

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

scientific article

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

scientific journal article

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

A systematic approach to mapping recessive disease genes in individuals from outbred populations

scientific article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

scientific article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

Characterization of mesonephric development and regeneration using transgenic zebrafish

scientific article published on September 1, 2010

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

scientific article published on January 8, 2014

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

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

scientific article

Mechanisms of Nephronophthisis and Related Ciliopathies

scientific article published on November 11, 2010

Mutations in EMP2 cause childhood-onset nephrotic syndrome

scientific article

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

scientific article

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

scientific article

Nephrocystin-3 is required for ciliary function in zebrafish embryos

scientific article

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

scientific journal article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

scientific article

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

scientific article

SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex

scientific article published on July 31, 2014

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition

scientific article (publication date: October 2014)

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

scientific article (publication date: April 2005)

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

scientific journal article

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

scientific article

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

scientific article published on 30 March 2018

3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide

scientific article published on July 25, 2012

List of works by Friedhelm Hildebrandt

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

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

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

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

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

A systematic approach to mapping recessive disease genes in individuals from outbred populations

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Characterization of mesonephric development and regeneration using transgenic zebrafish

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

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

Mechanisms of Nephronophthisis and Related Ciliopathies

Mutations in EMP2 cause childhood-onset nephrotic syndrome

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Nephrocystin-3 is required for ciliary function in zebrafish embryos

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex

Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide