List of works - Gudrun Nürnberg

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

scientific article

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

scientific article

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

scientific article

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

scientific article

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

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

scientific article

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

scientific article

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

scientific article

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

scientific journal article

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

scientific article

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

scientific article

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

scientific article

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

scientific article

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

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

scientific article

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

scientific article

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

scientific article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

scientific article

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

scientific article

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

scientific article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

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

scientific article

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

scientific article

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

scientific article

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

scientific article

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

scientific article

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

scientific article

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

scientific article published on 20 January 2017

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

scientific article published on 03 July 2013

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

scientific article

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

scientific article

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

scientific article

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

scientific article

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

scientific article

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

scientific article

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

scientific article published on 15 April 2011

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

scientific article

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

scientific article

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

scientific article

List of works by Gudrun Nürnberg

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

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

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

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

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

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

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

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Mutations in PYCR1 cause cutis laxa with progeroid features

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

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

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

Mutations in different components of FGF signaling in LADD syndrome

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

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

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family