List of works - Gregory Germino

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

scientific article published on 16 July 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

scientific article published on 28 October 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

scientific article

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

scientific article published on 01 May 1997

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

scientific article published on 01 September 1997

Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.

scientific article

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

scientific article published on 24 May 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.

scientific article

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

scientific article (publication date: December 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 ⬇️

scientific article published on April 4, 2011

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

scholarly article

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

scientific article

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

scientific article published on May 1, 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.

scientific article

From cilia to cyst.

scientific article

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

scientific article

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

scientific article published on 16 April 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

scientific article published in September 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

scientific article published on 01 May 2005

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

scientific article

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

scientific article

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

scientific article published on 01 August 2003

Multiple-laboratory comparison of microarray platforms

article

Murine Models of Polycystic Kidney Disease.

scientific article

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

scientific article published in February 1999

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

scientific article published on 10 August 2017

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

scientific article

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

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

scientific article published on 2 November 2006

Pkd1 and Pkd2 are required for normal placental development

scientific article (publication date: 2010)

Polycystic kidney disease, cilia, and planar polarity.

scientific article published on 23 December 2009

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

scientific article published on 09 April 2013

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

scientific article

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

scientific article published on 2 March 2009

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

scientific article

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

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

scientific article published on July 23, 2012

Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.

scientific article

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

scientific article (publication date: September 2003)

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

scientific article published on January 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

scientific article published on 01 February 2007

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

scientific article

The nanomechanics of polycystin-1 extracellular region.

scientific article published on 11 October 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.

scientific article published on 26 June 2010

“Mistakes Happen”: Somatic Mutation and Disease ⬇️

scientific article published on November 1, 1997

List of works by 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 ⬇️