Lista de obras - Edgar A. Otto - Dominio Público Uruguay

A boy with proteinuria and focal global glomerulosclerosis: Answers

A boy with proteinuria and focal global glomerulosclerosis: Question

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

artículo científico publicado en 2009

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

artículo científico publicado en 2000

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

artículo científico publicado en 2002

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

artículo científico publicado en 2009

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

artículo científico publicado en 1997

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

artículo científico publicado en 2009

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

scientific journal article

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

artículo científico publicado en 2013

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

artículo científico publicado en 2013

Analysis of orbital T cells in thyroid-associated ophthalmopathy

artículo científico publicado en 1998

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

artículo científico publicado en 2004

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis

artículo científico publicado en 2001

Evidence of Oligogenic Inheritance in Nephronophthisis

article

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans

artículo científico publicado en 2005

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

artículo científico publicado en 2012

FAT1 mutations cause a glomerulotubular nephropathy

artículo científico publicado en 2016

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

scientific journal article

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Glycosaminoglycans in thyroid-associated ophthalmopathy

artículo científico publicado en 1992

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

article

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

artículo científico publicado en 2010

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

artículo científico publicado en 2009

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

artículo científico publicado en 2015

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

artículo científico publicado en 2003

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Is ciliary Hedgehog signalling dispensable in the kidneys?

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

artículo científico publicado en 2015

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

artículo científico publicado en 2015

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

scientific journal article

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

artículo científico publicado en 2015

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

artículo científico publicado en 2011

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

article

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2011

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

artículo científico publicado en 2006

Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes

artículo científico publicado en 2000

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

artículo científico publicado en 2010

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

artículo científico publicado en 2008

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

scientific journal article

Mutational analysis in 119 families with nephronophthisis

article

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

artículo científico publicado en 2007

Mutations in EMP2 cause childhood-onset nephrotic syndrome

artículo científico publicado en 2014

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

artículo científico publicado en 2014

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

artículo científico publicado en 2003

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Nephronophthisis: disease mechanisms of a ciliopathy

artículo científico publicado en 2008

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

artículo científico publicado en 2015

Orbital tissue-derived T lymphocytes from patients with Graves' ophthalmopathy recognize autologous orbital antigens

artículo científico publicado en 1996

Organoid single cell profiling identifies a transcriptional signature of glomerular disease

artículo científico publicado en 2019

Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region

artículo científico publicado en 2001

Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

artículo científico publicado en 2003

Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies andNPHP3mutation

Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

artículo científico publicado en 2006

SARS-CoV-2 receptor networks in diabetic and COVID-19 associated kidney disease

artículo científico publicado en 2020

SARS-CoV-2 receptor networks in diabetic kidney disease, BK-Virus nephropathy and COVID-19 associated acute kidney injury

artículo científico publicado en 2020

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

artículo científico publicado en 2004

Single cell transcriptomics identifies focal segmental glomerulosclerosis remission endothelial biomarker

artículo científico publicado en 2020

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

artículo científico publicado en 2015

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Telomeric refinement of the MCKD1 locuson chromosome 1q21**See Editorial by Bichet and Fujiwara, p. 864

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.

artículo científico publicado en 2007

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

artículo científico publicado en 2013

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

artículo científico publicado en 2015

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

artículo científico publicado en 2015

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

artículo científico publicado en 2013

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

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

artículo científico publicado en 2013

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine

artículo científico publicado en 2016

Lista de obras de Edgar A. Otto

A boy with proteinuria and focal global glomerulosclerosis: Answers

A boy with proteinuria and focal global glomerulosclerosis: Question

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

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

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

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

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

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

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

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

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

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Analysis of orbital T cells in thyroid-associated ophthalmopathy

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

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

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

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

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis

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

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

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis

Evidence of Oligogenic Inheritance in Nephronophthisis

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

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

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

Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans

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

FAT1 mutations cause a glomerulotubular nephropathy

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

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

Glycosaminoglycans in thyroid-associated ophthalmopathy

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

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

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

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

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

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

Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

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

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

Is ciliary Hedgehog signalling dispensable in the kidneys?

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

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

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

MYO1E mutations and childhood familial focal segmental glomerulosclerosis

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

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

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

Molecular cloning of the critical region for glomerulopathy with fibronectin deposits (GFND) and evaluation of candidate genes

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

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

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

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)

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

Mutational analysis in 119 families with nephronophthisis

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

Mutations in EMP2 cause childhood-onset nephrotic syndrome

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

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

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

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

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

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis