Lista de obras - Massimo Attanasio - Dominio Público Uruguay

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

artículo científico publicado en 2009

Ciliopathies and DNA damage: an emerging nexus

artículo científico

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN ⬇️

artículo científico publicado el 28 de diciembre de 2012

Evidence of Oligogenic Inheritance in Nephronophthisis

article

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

artículo científico publicado en 2012

Hedgehog signaling indirectly affects tubular cell survival after obstructive kidney injury.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

Increased hedgehog signaling in postnatal kidney results in aberrant activation of nephron developmental programs

scientific journal article

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

artículo científico publicado en 2010

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

scientific journal article

Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.

artículo científico publicado en 2016

Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production

artículo científico publicado en 2016

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

article

Medullary cystic kidney disease type 1 in a large Native-American kindred

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

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

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

Persistent increase in mitochondrial superoxide mediates cisplatin-induced chronic kidney disease

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Transcription Factor Hepatocyte Nuclear Factor-1β (HNF-1β) Regulates MicroRNA-200 Expression through a Long Noncoding RNA

artículo científico publicado en 2015

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Lista de obras de Massimo Attanasio

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

Ciliopathies and DNA damage: an emerging nexus

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN ⬇️

Evidence of Oligogenic Inheritance in Nephronophthisis

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

Hedgehog signaling indirectly affects tubular cell survival after obstructive kidney injury.

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

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

Increased hedgehog signaling in postnatal kidney results in aberrant activation of nephron developmental programs

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

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

Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.

Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production

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

Medullary cystic kidney disease type 1 in a large Native-American kindred

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

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

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

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

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

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

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

Nephronophthisis: disease mechanisms of a ciliopathy

Persistent increase in mitochondrial superoxide mediates cisplatin-induced chronic kidney disease

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

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

Transcription Factor Hepatocyte Nuclear Factor-1β (HNF-1β) Regulates MicroRNA-200 Expression through a Long Noncoding RNA

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

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