Lista de obras - Gregory Germino - Dominio Público Uruguay

<i>Pkd1</i> Mutation Has No Apparent Effects on Peroxisome Structure or Lipid Metabolism

artículo científico publicado en 2021

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

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

artículo científico publicado en 2007

A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo

scientific article published on 01 December 2004

A missense mutation in PKD1 attenuates the severity of renal disease

artículo científico publicado en 2011

ARPKD and ADPKD: first cousins or more distant relatives?

scientific article published on 13 February 2008

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

artículo científico publicado en 1997

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

artículo científico publicado en 1997

Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.

artículo científico publicado en 2003

Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.

artículo científico publicado en 2007

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

artículo científico publicado en 2002

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

artículo científico publicado en 2000

Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting ducts ⬇️

artículo científico publicado el 4 de abril de 2011

Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.

artículo científico publicado en 2007

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

artículo científico publicado en 2007

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers

artículo científico publicado el 1 de mayo de 1992

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

artículo científico publicado en 1998

From cilia to cyst.

artículo científico publicado en 2003

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

artículo científico publicado en 2007

Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.

artículo científico publicado en 2008

Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1)

article

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

artículo científico publicado en 2002

Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells

scientific article published on 14 January 2009

Linking cilia to Wnts

artículo científico publicado en 2005

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function

artículo científico publicado en 2007

Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.

artículo científico publicado en 2011

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

artículo científico publicado en 2003

Multiple-laboratory comparison of microarray platforms

article

Murine Models of Polycystic Kidney Disease.

artículo científico publicado en 2013

Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.

artículo científico publicado en 1999

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

artículo científico publicado en 2017

Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2002

Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.

artículo científico publicado en 2006

Pkd1 and Pkd2 are required for normal placental development

artículo científico publicado en 2010

Polycystic kidney disease, cilia, and planar polarity.

artículo científico publicado en 2009

Polycystic kidney disease: Polycystin-1 and polycystin-2--it's complicated

artículo científico publicado en 2013

Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway.

artículo científico publicado en 2006

Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.

artículo científico publicado en 2009

Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1−/− mice ⬇️

artículo científico publicado el 23 de julio de 2012

Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.

artículo científico publicado en 2010

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

Role of polycystins in renal tubulogenesis

artículo científico publicado en 2003

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

artículo científico publicado en 2003

T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.

scientific article published on 09 March 2011

The attrition of young physician-scientists: problems and potential solutions

artículo científico publicado en 2007

The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.

artículo científico publicado en 2007

The nanomechanics of polycystin-1 extracellular region.

artículo científico publicado en 2005

The pathobiology of polycystic kidney disease from a metabolic viewpoint

scientific article published on 05 September 2019

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

scientific article published on 01 October 2000

mTOR inhibitors in polycystic kidney disease.

artículo científico publicado en 2010

“Mistakes Happen”: Somatic Mutation and Disease ⬇️

artículo científico publicado el 1 de noviembre de 1997

Lista de obras de Gregory Germino

<i>Pkd1</i> Mutation Has No Apparent Effects on Peroxisome Structure or Lipid Metabolism

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

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo

A missense mutation in PKD1 attenuates the severity of renal disease

ARPKD and ADPKD: first cousins or more distant relatives?

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

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.

Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.

Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting ducts ⬇️

Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.

Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers

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

From cilia to cyst.

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

Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.

Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1)

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

Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells

Linking cilia to Wnts

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function

Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.

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

Multiple-laboratory comparison of microarray platforms

Murine Models of Polycystic Kidney Disease.

Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.

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

Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier.

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

Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.

Pkd1 and Pkd2 are required for normal placental development

Polycystic kidney disease, cilia, and planar polarity.

Polycystic kidney disease: Polycystin-1 and polycystin-2--it's complicated

Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway.

Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.

Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1

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

Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1−/− mice ⬇️

Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.

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

Role of polycystins in renal tubulogenesis

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

T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.

The attrition of young physician-scientists: problems and potential solutions

The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.

The nanomechanics of polycystin-1 extracellular region.

The pathobiology of polycystic kidney disease from a metabolic viewpoint

Thirteen novel mutations of the replicated region of PKD1 in an Asian population

mTOR inhibitors in polycystic kidney disease.

“Mistakes Happen”: Somatic Mutation and Disease ⬇️