List of works - Friedhelm Hildebrandt

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

scientific article published on July 25, 2012

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

scientific article

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

scientific article

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

scientific article

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

scientific article

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

scientific journal article

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.

scientific article published on 18 January 2018

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 01 April 2019

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

scientific article

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

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

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

scientific article

Characterization of mesonephric development and regeneration using transgenic zebrafish ⬇️

scientific article published on September 1, 2010

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

scientific article

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

scientific article published on 03 September 2019

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

scientific article

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

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

scientific article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

scientific journal article

Healthcare recommendations for Joubert syndrome

scientific article published on 11 November 2019

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

scientific article published on 12 March 2019

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

scientific article published on 12 July 2018

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

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

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

scientific article

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

scientific article

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

scientific journal article

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

scientific article published on 27 August 2020

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

scientific article

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

scientific article

Mechanisms of Nephronophthisis and Related Ciliopathies ⬇️

scientific article published on November 11, 2010

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

scientific journal article

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

scientific article (publication date: April 2005)

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

scientific article

Mutations in EMP2 cause childhood-onset nephrotic syndrome

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)

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

scientific article published on 14 August 2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific journal article

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

scientific article

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

scientific article

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome

scientific article published on 06 August 2018

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

scientific article

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

scientific journal article

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

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

scientific article

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

scientific article

Nephrocystin-3 is required for ciliary function in zebrafish embryos

scientific article

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

scientific article

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

scientific article (publication date: October 2014)

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

scientific article published on 24 August 2019

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

scientific article published on 01 June 2020

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

scientific article

SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex

scientific journal article

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

scientific article

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

scientific article published on 27 February 2019

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

scientific article

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

scientific article

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

scientific article

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

scientific article published on 21 December 2018

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

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

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

scientific article published on 30 March 2018

List of works by Friedhelm Hildebrandt

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

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

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

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

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

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

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

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

Characterization of mesonephric development and regeneration using transgenic zebrafish ⬇️

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

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

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

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

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

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Healthcare recommendations for Joubert syndrome

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants ⬇️

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

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

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

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

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

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

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

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

Mechanisms of Nephronophthisis and Related Ciliopathies ⬇️

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

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

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

Mutations in EMP2 cause childhood-onset nephrotic syndrome

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

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

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

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

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

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome

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

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

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

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

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

Nephrocystin-3 is required for ciliary function in zebrafish embryos

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

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

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

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

SDCCAG8 regulates pericentriolar material recruitment and neuronal migration in the developing cortex

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

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

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

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

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

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

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

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

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

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