Professor, Internal Medicine, Yale University School of Medicine

Nephrology

Doctor Stefan Somlo, MD is an expert in the field of Nephrology. He studied medicine at Columbia University College of Physicians & Surgeons. Columbia University College of Physicians & Surgeons is one of the top medical schools in the US. Columbia University College of Physicians & Surgeons is ranked 8 in research and 52 in primary care medicine He has 1 awards "Elected Member". Doctor Stefan Somlo, MD is a published doctor. He published 100 publications, including: 'Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25.'

Publications

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• Phosphoinositide 3-Kinase-C2α Regulates Polycystin-2 Ciliary Entry and Protects against Kidney Cyst Formation.
• The Kidney Research National Dialogue: Gearing Up to Move Forward.
• Filling the Holes in Cystic Kidney Disease Research.
• Polycystin-1: a master regulator of intersecting cystic pathways.
• Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease.
• miR-17~92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease.
• Identification of two Fas-associated phosphatase-1 (FAP-1) promoters in human cancer cells.
• Human disease: calcium signaling in polycystic kidney disease.
• Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
• Vascular expression of polycystin-2.
• Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.
• The pathogenesis of autosomal dominant polycystic kidney disease: an update.
• In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2.
• Cloning and characterization of the murine pkd2 promoter.
• Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.
• The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.
• Getting a foothold in nephrotic syndrome.
• Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
• Cardiac defects and renal failure in mice with targeted mutations in Pkd2.
• The rat pkd2 protein assumes distinct subcellular distributions in different organs.
• 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.
• The PKD2 gene: structure, interactions, mutations, and inactivation.
• Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
• Signal transduction. Mating, channels and kidney cysts.
• Identification and characterization of polycystin-2, the PKD2 gene product.
• Polycystin-2 expression is developmentally regulated.
• Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells.
• A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.
• Identification of PKD2L, a human PKD2-related gene: tissue-specific expression and mapping to chromosome 10q25.
• A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
• A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
• Somatic inactivation of Pkd2 results in polycystic kidney disease.
• Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
• Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
• Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
• Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.
• A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
• Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2).
• A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).
• PKD1 interacts with PKD2 through a probable coiled-coil domain.
• An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.
• PCR, Southern blotting and oocyte expression to assess the efficacy of subtractive hybridization.
• PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
• 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.
• Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23.
• A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.
• Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).
• Inherited diseases of the kidney.
• Evidence for a third genetic locus for autosomal dominant polycystic kidney disease.
• Nerve growth cones isolated from fetal rat brain: subcellular fractionation and characterization.
• The diagnosis and prognosis of autosomal dominant polycystic kidney disease.
• Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands.
• 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.
• Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
• Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
• The ?-Secretase Cleavage Product of Polycystin-1 Regulates TCF and CHOP-Mediated Transcriptional Activation through a p300-Dependent Mechanism.
• Macrophages promote cyst growth in polycystic kidney disease.
• A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
• Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases.
• Polycystic liver diseases: congenital disorders of cholangiocyte signaling.
• T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.
• Activating AMP-activated protein kinase (AMPK) slows renal cystogenesis.
• Polycystin-2 activation by inositol 1,4,5-trisphosphate-induced Ca2+ release requires its direct association with the inositol 1,4,5-trisphosphate receptor in a signal...
• Molecular advances in autosomal dominant polycystic kidney disease.
• Mammalian target of rapamycin regulates vascular endothelial growth factor-dependent liver cyst growth in polycystin-2-defective mice.
• Chemical modifier screen identifies HDAC inhibitors as suppressors of PKD models.
• Loss of oriented cell division does not initiate cyst formation.
• ERK1/2-dependent vascular endothelial growth factor signaling sustains cyst growth in polycystin-2 defective mice.
• Polycystin-1 C-terminal cleavage is modulated by polycystin-2 expression.
• Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease.
• Neutrophil gelatinase-associated lipocalin suppresses cyst growth by Pkd1 null cells in vitro and in vivo.
• Syntaxin 5 regulates the endoplasmic reticulum channel-release properties of polycystin-2.
• Effect of calcium-sensing receptor activation in models of autosomal recessive or dominant polycystic kidney disease.
• Triptolide reduces cystogenesis in a model of ADPKD.
• Loss of polycystin-1 causes centrosome amplification and genomic instability.
• Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease.
• Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease.
• Too much of a good thing: does Nek8 link polycystic kidney disease and nephronophthisis?
• Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.
• Cyst formation and activation of the extracellular regulated kinase pathway after kidney specific inactivation of Pkd1.
• Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.
• Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2.
• Analysis of published PKD1 gene sequence variants.
• Triptolide is a traditional Chinese medicine-derived inhibitor of polycystic kidney disease.
• The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells.
• Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.
• DCDC2 is associated with reading disability and modulates neuronal development in the brain.
• Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells.
• [Ca2+]i reduction increases cellular proliferation and apoptosis in vascular smooth muscle cells: relevance to the ADPKD phenotype.
• Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus.
• Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.
• Mutations in SEC63 cause autosomal dominant polycystic liver disease.
• PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Schools

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• Columbia University College Of Physicians and Surgeons

• Albert Einstein College Of Med Of Yeshiva University

• BmhcAlbert Einstein

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
• Albert Einstein College of Medicine at Jacobi Medical Center
• Columbia University College of Physicians & Surgeons

Hospital

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• Yale-New Haven Hospital

Helpful Reviews

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Medicare Facts

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National Provider Identifier [NPI]	1538144035
Last Name Of The Provider	SOMLO
First Name Of The Provider	STEFAN
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