List of works - Luiz F Onuchic

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6

scientific article published on 01 April 1999

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

scientific article published on 01 May 1997

Associations between OPG and RANKL polymorphisms, vertebral fractures, and abdominal aortic calcification in community-dwelling older subjects: the Sao Paulo Ageing & Health Study (SPAH).

scientific article published on 16 June 2016

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.

scientific article published on 17 January 2008

Biochemical characterization of bona fide polycystin-1 in vitro and in vivo

scientific article published on 01 December 2001

Cardiac dysfunction in Pkd1-deficient mice with phenotype rescue by galectin-3 knockout

scientific article published on 27 July 2016

Cell volume regulation in rat thin ascending limb of Henle's loop

scientific article published on 01 September 1992

Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene ⬇️

scientific article published on April 1, 1995

Clinical aspects of autosomal recessive polycystic kidney disease

scientific article published on July 1, 2010

Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume

scientific article

Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?

scientific article published in March 2017

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

scientific article

Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease.

scientific article

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

scientific article

Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy

scientific article published on 15 November 2017

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

scientific article published in September 2002

Identification of a novel cytokine, ML-1, and its expression in subjects with asthma.

scientific article published in October 2001

Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas.

scientific article published on 6 October 2008

Infundibular stenosis in Bardet-Biedl syndrome

scientific article published on 01 August 2011

International Multi-Specialty Delphi Survey: Identification of Diagnostic Criteria for Hepatic and Renal Cyst Infection.

scientific article published on 3 September 2016

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

scientific article

Ionic dependence of cell volume regulation by the thin ascending limb of Henle's loop

scientific article published on 01 January 1990

Mechanisms of cell volume regulation in the proximal segment of the Malpighian tubule of Rhodnius neglectus.

scientific article published in July 1995

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

scientific article published on 01 August 2003

Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease.

scientific article published on 27 May 2011

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.

scientific article published on December 2006

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.

scientific article published on 10 August 2017

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

scientific article published on May 2004

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

scientific article published on 15 March 2002

Polyductin undergoes notch-like processing and regulated release from primary cilia

scientific article

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

scientific article

Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia

scientific article published on 25 January 2012

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene

scientific article published on 01 July 2002

Regulation of CFTR Expression and Arginine Vasopressin Activity Are Dependent on Polycystin-1 in Kidney-Derived Cells.

scientific article published on 8 January 2016

Renal cyst growth is the main determinant for hypertension and concentrating deficit in Pkd1-deficient mice

scientific article published on 15 January 2014

Schistosoma mansoni infection as a trigger to collapsing glomerulopathy in a patient with high-risk APOL1 genotype

scientific article published on 29 October 2020

Secondary hypertension caused by massive renal lymphangiomatosis

scientific article published on 01 August 2013

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

scientific article published on January 2003

Two cases of fungal cyst infection in ADPKD: is this really a rare complication?

scientific article published on 29 October 2019

[Accidental hypothermia: glycemic, hematologic and blood amylase changes]

scientific article published on 01 July 1990

[Effects of dopamine and dobutamine on renal function in normal rats]

scientific article published on 01 September 1988

List of works by Luiz F Onuchic

A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

Associations between OPG and RANKL polymorphisms, vertebral fractures, and abdominal aortic calcification in community-dwelling older subjects: the Sao Paulo Ageing & Health Study (SPAH).

Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.

Biochemical characterization of bona fide polycystin-1 in vitro and in vivo

Cardiac dysfunction in Pkd1-deficient mice with phenotype rescue by galectin-3 knockout

Cell volume regulation in rat thin ascending limb of Henle's loop

Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene ⬇️

Clinical aspects of autosomal recessive polycystic kidney disease

Cyst infection in hospital-admitted autosomal dominant polycystic kidney disease patients is predominantly multifocal and associated with kidney and liver volume

Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease.

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy

Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene

Identification of a novel cytokine, ML-1, and its expression in subjects with asthma.

Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas.

Infundibular stenosis in Bardet-Biedl syndrome

International Multi-Specialty Delphi Survey: Identification of Diagnostic Criteria for Hepatic and Renal Cyst Infection.

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

Ionic dependence of cell volume regulation by the thin ascending limb of Henle's loop

Mechanisms of cell volume regulation in the proximal segment of the Malpighian tubule of Rhodnius neglectus.

Milder Presentation of Recessive Polycystic Kidney Disease Requires Presence of Amino Acid Substitution Mutations

Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease.

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease.

NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology.

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

Polyductin undergoes notch-like processing and regulated release from primary cilia

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene

Regulation of CFTR Expression and Arginine Vasopressin Activity Are Dependent on Polycystin-1 in Kidney-Derived Cells.

Renal cyst growth is the main determinant for hypertension and concentrating deficit in Pkd1-deficient mice

Schistosoma mansoni infection as a trigger to collapsing glomerulopathy in a patient with high-risk APOL1 genotype

Secondary hypertension caused by massive renal lymphangiomatosis

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Two cases of fungal cyst infection in ADPKD: is this really a rare complication?

[Accidental hypothermia: glycemic, hematologic and blood amylase changes]

[Effects of dopamine and dobutamine on renal function in normal rats]