List of works - Edgar A. Otto

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

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

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

scientific article (publication date: November 2001)

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

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

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

scientific article

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

scientific article

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

scientific article

Nephronophthisis: disease mechanisms of a ciliopathy

scientific article

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

scientific article (publication date: October 1997)

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

scientific journal article

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

scientific 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

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

scientific article

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

scientific article

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

scientific article

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

scientific article

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

scientific article published on 23 June 2013

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

scientific article

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

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

scientific article

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

scientific article published on 11 May 2015

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

article

Evidence of Oligogenic Inheritance in Nephronophthisis

article

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

scientific article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

scientific article published on March 2014

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

scientific article

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

scientific article published on 6 July 2007

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects

scientific article published on 6 July 2015

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

scientific article

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

scientific article

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

scholarly article

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

scientific article

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

scientific article

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome

scientific article

List of works by Edgar A. Otto

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

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

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

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

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

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

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

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

Nephronophthisis: disease mechanisms of a ciliopathy

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

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

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

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

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

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

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

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

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

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

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

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

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Evidence of Oligogenic Inheritance in Nephronophthisis

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

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects

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

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

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

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome