Physician

Nephrology

Gregory G. Germino is an expert in the field of Nephrology. He attended University of Chicago Pritzker School of Medicine. University of Chicago Pritzker School of Medicine is ranked 10/19 in Research/PrimaryCare. He received 1 awards: "Elected Member". Gregory G. Germino is a published doctor as well. He has 101 publications published. The latest was: Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.

Publications

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• Systems biology of polycystic kidney disease: a critical review.
• Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function.
• Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
• Polycystin signaling is required for directed endothelial cell migration and lymphatic development.
• Determination of urinary lithogenic parameters in murine models orthologous to autosomal dominant polycystic kidney disease.
• Murine Models of Polycystic Kidney Disease.
• A Pkd1-Fbn1 Genetic Interaction Implicates TGF-β Signaling in the Pathogenesis of Vascular Complications in Autosomal Dominant Polycystic Kidney Disease.
• Polycystic kidney disease: Polycystin-1 and polycystin-2-it's complicated.
• Network Analysis of a Pkd1-Mouse Model of Autosomal Dominant Polycystic Kidney Disease Identifies HNF4α as a Disease Modifier.
• Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.
• Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting...
• T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.
• mTOR inhibitors in polycystic kidney disease.
• Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.
• Molecular advances in autosomal dominant polycystic kidney disease.
• Pkd1 and Pkd2 are required for normal placental development.
• Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion.
• Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K an...
• Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells.
• Polycystic kidney disease, cilia, and planar polarity.
• TRPP2 and TRPV4 form a polymodal sensory channel complex.
• Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.
• ARPKD and ADPKD: first cousins or more distant relatives?
• A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.
• Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.
• Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.
• Polycystin-1 induces cell migration by regulating phosphatidylinositol 3-kinase-dependent cytoskeletal rearrangements and GSK3beta-dependent cell cell mechanical adhes...
• Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
• The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.
• Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases confe...
• The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.
• Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway.
• Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.
• Linking cilia to Wnts.
• A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo.
• Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.
• PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
• Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
• Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.
• Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
• Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
• Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.
• Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
• PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and ...
• PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.
• Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.
• Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism.
• The attrition of young physician-scientists: problems and potential solutions.
• Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.
• Effect of pioglitazone on survival and renal function in a mouse model of polycystic kidney disease.
• Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
• Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
• Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
• Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.
• Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells.
• Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
• Expression of polycystin-1 enhances endoplasmic reticulum calcium uptake and decreases capacitative calcium entry in ATP-stimulated MDCK cells.
• Biochemical characterization of bona fide polycystin-1 in vitro and in vivo.
• Regional localization of the autosomal dominant polycystic kidney disease locus.
• A second genetic locus for autosomal dominant polycystic kidney disease.
• The molecular genetics of autosomal dominant polycystic kidney disease.
• Recent advances in the genetics of renal cystic disease.
• Mapping the locus of autosomal dominant polycystic kidney disease: diagnostic application.
• Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.
• Telomere-related sequences at interstitial sites in the human genome.
• Saturating the region of the polycystic kidney disease gene with NotI linking clones.
• Use of the polymerase chain reaction to clone and sequence a cDNA encoding the bovine alpha 3 chain of type IV collagen.
• Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands.
• Construction of a map of chromosome 16 by using radiation hybrids.
• CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel.
• The molecular genetics of autosomal-dominant polycystic kidney disease of the PKD1 type.
• The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.
• A positional cloning approach to inherited renal disease.
• Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).
• Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.
• "Mistakes happen": somatic mutation and disease.
• An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
• Evaluation of DNA sequencing ambiguities using tetramethylammonium chloride hybridization conditions.
• Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein.
• PKD1 interacts with PKD2 through a probable coiled-coil domain.
• An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.
• Autosomal dominant polycystic kidney disease: a two-hit model.
• The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.
• Positional cloning approach to the dominant polycystic kidney disease gene, PKD1.
• A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region.
• Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).
• Inherited diseases of the kidney.
• A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1).
• The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.
• A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.
• Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.
• Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.
• A 2.5 kb polypyrimidine tract in the PKD1 gene contains at least 23 H-DNA-forming sequences.
• Gene conversion is a likely cause of mutation in PKD1.
• Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
• Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.
• Genomic organization of the KIAA0057 gene that encodes a TRAM-like protein and its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene.
• Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
• Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
• Molecular basis of autosomal dominant polycystic kidney disease.

Schools

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• U Of Chgo Div Of Bio Sci Pritzker Sch Of Med

• Yale New Haven Hospital

Doctors Specialties

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• Internal Medicine
• Nephrology

Accepted Insurances

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Awards

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• Elected Member

Education

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• Yale-New Haven Hospital
• Yale New Haven Children's Center
• University of Chicago Pritzker School of Medicine

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