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Gregory Germino

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Rebecca L Foy; Gregory G Germino; Jean W Lee; Delia Lopez; Maria V Panchenko; Klaus B Piontek; Feng Qian; Shaunak V Rana; Leonidas Tsiokas; Liling Zeng; Mina I Zhou; Alessandra Boletta; Vipul C Chitalia; Herbert T Cohen
Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
Tomoka Wachi; Noriyuki Yoshida; Yoshihiko Funae; Gregory G Germino; Shinji Hirotsune; Munehisa Ueno; Nobuhiro Deguchi
Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1(-/-) mice.
York Pei; Kairong Wang; Elizabeth Dicks; Miguel Garcia-Gonzalez; Gregory G Germino; Ning He; Zheng Lan; Patrick Parfrey; Terry Watnick
A missense mutation in PKD1 attenuates the severity of renal disease.

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2012: Rebecca L Foy; Gregory G Germino; Jean W Lee; Delia Lopez; Maria V Panchenko; Klaus B Piontek; Feng Qian; Shaunak V Rana; Leonidas Tsiokas; Liling Zeng; Mina I Zhou; Alessandra Boletta; Vipul C Chitalia; Herbert T Cohen
Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
Human molecular genetics 2012;21(26):5456-71.
2012: Tomoka Wachi; Noriyuki Yoshida; Yoshihiko Funae; Gregory G Germino; Shinji Hirotsune; Munehisa Ueno; Nobuhiro Deguchi
Progesterone induced mesenchymal differentiation and rescued cystic dilation of renal tubules of Pkd1(-/-) mice.
Biochemical and biophysical research communications 2012;425(2):212-8.
2012: York Pei; Kairong Wang; Elizabeth Dicks; Miguel Garcia-Gonzalez; Gregory G Germino; Ning He; Zheng Lan; Patrick Parfrey; Terry Watnick
A missense mutation in PKD1 attenuates the severity of renal disease.
Kidney international 2012;81(4):412-7.
2012: Luis F Menezes; Andrew D Patterson; Klaus B Piontek; Fang Zhou; Frank J Gonzalez; Kristopher W Krausz; Gregory G Germino
Network analysis of a Pkd1-mouse model of autosomal dominant polycystic kidney disease identifies HNF4α as a disease modifier.
PLoS genetics 2012;8(11):e1003053.
2011: Katherine A Steigelman; Claas Wodarczyk; Xudong Wu; Alessandra Boletta; Jiangang Gao; Gwenaelle Geleoc; Gregory G Germino; Jeffrey R Holt; Hyunho Kim; Andrea Lelli; Susan Lin; Klaus B Piontek; Feng Qian; Jian Zuo
Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(34):12241-50.
2011: Michelle M Miller; Inga Murawski; Stefan Somlo; Zhao Zhang; LeeLee Chu; Rachel Corsini; Gregory G Germino; Indra Gupta; Diana M Iglesias; Paul Goodyer
T-cell factor/β-catenin activity is suppressed in two different models of autosomal dominant polycystic kidney disease.
Kidney international 2011;80(2):146-53.
2011: Frederico M Ferreira; Gregory G Germino; Leandro C Oliveira; José N Onuchic; Luiz F Onuchic
Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(24):9833-8.
2011: Binu M Paul; Dianne Vassmer; Aaron Taylor; Lynn Magenheimer; Carol G Carlton; Klaus B Piontek; Gregory G Germino; Gregory B Vanden Heuvel
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.
Developmental dynamics : an official publication of the American Association of Anatomists 2011;240(6):1493-501.
2010: Terry Watnick; Gregory G Germino
mTOR inhibitors in polycystic kidney disease.
The New England journal of medicine 2010;363(9):879-81.
2010: Anna Rachel Gallagher; Gregory G Germino; Stefan Somlo
Molecular advances in autosomal dominant polycystic kidney disease.
Advances in chronic kidney disease 2010;17(2):118-30.
2010: Jonathan Shillingford; Klaus B Piontek; Gregory G Germino; Thomas Weimbs
Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1.
Journal of the American Society of Nephrology : JASN 2010;21(3):489-97.
2010: Miguel A Garcia-Gonzalez; Patricia Outeda; Qin Zhou; Fang Zhou; Luis F Menezes; Feng Qian; David L Huso; Gregory G Germino; Klaus B Piontek; Terry Watnick
Pkd1 and Pkd2 are required for normal placental development.
PloS one 2010;5(9):.
2009: Ana P Bastos; Klaus B Piontek; Ana M Silva; Dino Martini; Luis F Menezes; Jonathan M Fonseca; Ivone I Fonseca; Gregory G Germino; Luiz F Onuchic
Pkd1 haploinsufficiency increases renal damage and induces microcyst formation following ischemia/reperfusion.
Journal of the American Society of Nephrology : JASN 2009;20(11):2389-402.
2009: Gianfranco Distefano; Manila Boca; Isaline Rowe; Claas Wodarczyk; Li Ma; Klaus B Piontek; Gregory G Germino; Pier Paolo Pandolfi; Alessandra Boletta
Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.
Molecular and cellular biology 2009;29(9):2359-71.
2009: Kalani L Raphael; Kevin A Strait; Peter K Stricklett; R Lance Miller; Raoul D Nelson; Klaus B Piontek; Gregory G Germino; Donald E Kohan
Inactivation of Pkd1 in principal cells causes a more severe cystic kidney disease than in intercalated cells.
Kidney international 2009;75(6):626-33.
2009: Luis F Menezes; Gregory G Germino
Polycystic kidney disease, cilia, and planar polarity.
Methods in cell biology 2009;94():273-97.
2009: K L Raphael; Kevin A Strait; Peter K Stricklett; Bradley C Baird; Klaus B Piontek; Gregory G Germino; Donald E Kohan
Effect of pioglitazone on survival and renal function in a mouse model of polycystic kidney disease.
American journal of nephrology 2009;30(5):468-73.
2008: Michael Köttgen; Björn Buchholz; Miguel A Garcia-Gonzalez; Fruzsina Kotsis; Xiao Fu; Mara Doerken; Christopher Boehlke; Daniel Steffl; Robert Tauber; Tomasz Wegierski; Roland Nitschke; Makoto Suzuki; Albrecht Kramer-Zucker; Gregory G Germino; Terry Watnick; Jean Prenen; Bernd Nilius; E Wolfgang Kuehn; Gerd Walz
TRPP2 and TRPV4 form a polymodal sensory channel complex.
The Journal of cell biology 2008;182(3):437-47.
2008: Kimberly H Weber; Eun Kyung Lee; Uma Basavanna; Sabina Lindley; Roy C Ziegelstein; Gregory G Germino; Michael Sutters
Heterologous expression of polycystin-1 inhibits endoplasmic reticulum calcium leak in stably transfected MDCK cells.
American journal of physiology. Renal physiology 2008;294(6):F1279-86.
2008: Jun-Ya Kaimori; Gregory G Germino
ARPKD and ADPKD: first cousins or more distant relatives?
Journal of the American Society of Nephrology : JASN 2008;19(3):416-8.
2007: Klaus B Piontek; Luis F Menezes; Miguel A Garcia-Gonzalez; David L Huso; Gregory G Germino
A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.
Nature medicine 2007;13(12):1490-5.
2007: Shengqiang Yu; Karl Hackmann; Jianggang Gao; Jianggang Gao; Xiaobing He; Klaus B Piontek; Miguel A Garcia-Gonzalez; Miguel A García González; Luis F Menezes; Hangxue Xu; Gregory G Germino; Jian Zuo; Feng Qian
Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(47):18688-93.
2007: Perciliz L Tan; Travis Barr; Peter N Inglis; Norimasa Mitsuma; Susan M Huang; Miguel A Garcia-Gonzalez; Brian A Bradley; Stephanie Coforio; Phillip J Albrecht; Terry Watnick; Gregory G Germino; Philip L Beales; Michael J Caterina; Michel R Leroux; Frank rice; Nicholas Katsanis
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(44):17524-9.
2007: Manila Boca; Lisa D'Amato; Gianfranco Distefano; Roman S Polishchuk; Gregory G Germino; Alessandra Boletta
Polycystin-1 induces cell migration by regulating phosphatidylinositol 3-kinase-dependent cytoskeletal rearrangements and GSK3beta-dependent cell cell mechanical adhesion.
Molecular biology of the cell 2007;18(10):4050-61.
2007: Miguel A Garcia-Gonzalez; Jeffrey G Jones; Susan K Allen; Christopher M Palatucci; Sat Dev Batish; William K Seltzer; Zheng Lan; Erica Allen; Feng Qian; Xose M Lens; York Pei; Gregory G Germino; Terry Watnick
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Molecular genetics and metabolism 2007;92(1-2):160-7.
2007: Miguel A Garcia-Gonzalez; Luis F Menezes; Klaus B Piontek; Junya Kaimori; David L Huso; Terry Watnick; Luiz F Onuchic; Lisa M Guay-Woodford; Gregory G Germino
Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
Human molecular genetics 2007;16(16):1940-50.
2007: Uma Basavanna; Kimberly M Weber; Qinghua Hu; Roy C Ziegelstein; Gregory G Germino; Michael Sutters
The isolated polycystin-1 COOH-terminal can activate or block polycystin-1 signaling.
Biochemical and biophysical research communications 2007;359(2):367-72.
2007: Wen Wei; Karl Hackmann; Hangxue Xu; Gregory G Germino; Feng Qian
Characterization of cis-autoproteolysis of polycystin-1, the product of human polycystic kidney disease 1 gene.
The Journal of biological chemistry 2007;282(30):21729-37.
2007: Jun-ya Kaimori; Yasuyuki Nagasawa; Luis F Menezes; Miguel A Garcia-Gonzalez; Jie Deng; Enyu Imai; Luiz F Onuchic; Lisa M Guay-Woodford; Gregory G Germino
Polyductin undergoes notch-like processing and regulated release from primary cilia.
Human molecular genetics 2007;16(8):942-56.
2007: Mark Donowitz; Gregory G Germino; Fabio Cominelli; James M Anderson
The attrition of young physician-scientists: problems and potential solutions.
Gastroenterology 2007;132(2):477-80.
2006: Cherie Stayner; Diana M Iglesias; Paul Goodyer; Lana Ellis; Gregory G Germino; Jing Zhou; Michael Eccles
Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.
Human molecular genetics 2006;15(24):3520-8.
2006: Meral Gunay-Aygun; Ellis D Avner; Robert L Bacallao; Peter L Choyke; Joseph T Flynn; Gregory G Germino; Lisa M Guay-Woodford; Peter Harris; Theo Heller; Julie R Ingelfinger; Frederick J Kaskel; Robert Kleta; Nicholas F LaRusso; Parvathi Mohan; Gregory Pazour; Benjamin L Shneider; Vicente E Torres; Patricia Wilson; Colleen Zak; Jing Zhou; William A Gahl
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.
The Journal of pediatrics 2006;149(2):159-64.
2006: Jonathan Shillingford; Noel S Murcia; Claire H Larson; Seng Hui Low; Ryan C Hedgepeth; Nicole Brown; Chris A Flask; Andrew C Novick; David A Goldfarb; Albrecht Kramer-Zucker; Gerd Walz; Klaus B Piontek; Gregory G Germino; Thomas Weimbs
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(14):5466-71.
2006: Manila Boca; Gianfranco Distefano; Feng Qian; Anil K Bhunia; Gregory G Germino; Alessandra Boletta
Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway.
Journal of the American Society of Nephrology : JASN 2006;17(3):637-47.
2006: Masahiro Ikeda; Peying Fong; Jie Cheng; Alessandra Boletta; Feng Qian; Xue-Mei Zhang; Hui Cai; Gregory G Germino; William B Guggino
A regulatory role of polycystin-1 on cystic fibrosis transmembrane conductance regulator plasma membrane expression.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2006;18(1-3):9-20.
2006: Erica Allen; Klaus B Piontek; Elizabeth Garrett-Mayer; Miguel A Garcia-Gonzalez; Kerry Lee Gorelick; Gregory G Germino
Loss of polycystin-1 or polycystin-2 results in dysregulated apolipoprotein expression in murine tissues via alterations in nuclear hormone receptors.
Human molecular genetics 2006;15(1):11-21.
2005: Yun Li; Jerry Wright; Feng Qian; Gregory G Germino; William B Guggino
Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.
The Journal of biological chemistry 2005;280(50):41298-306.
2005: Feng Qian; Wen Wei; Gregory G Germino; Andres Oberhauser
The nanomechanics of polycystin-1 extracellular region.
The Journal of biological chemistry 2005;280(49):40723-30.
2005: Karl Hackmann; Arseni Markoff; Feng Qian; Nadja Bogdanova; Gregory G Germino; Petra Pennekamp; Bernd Dworniczak; Jürgen Horst; Volker Gerke
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.
Human molecular genetics 2005;14(21):3249-62.
2005: Kimberly M Hooper; Alessandra Boletta; Gregory G Germino; Qinghua Hu; Roy C Ziegelstein; Michael Sutters
Expression of polycystin-1 enhances endoplasmic reticulum calcium uptake and decreases capacitative calcium entry in ATP-stimulated MDCK cells.
American journal of physiology. Renal physiology 2005;289(3):F521-30.
2005: Gregory G Germino
Linking cilia to Wnts.
Nature genetics 2005;37(5):455-7.
2005: Rafael A Irizarry; Daniel S Warren; Forrest Spencer; Irene F Kim; Shyam Biswal; Bryan C Frank; Edward Gabrielson; Joe G. N. Garcia; Joel Geoghegan; Gregory G Germino; Constance A Griffin; Sara C Hilmer; Eric Hoffman; Anne E Jedlicka; Ernest Kawasaki; Francisco Martínez-Murillo; Laura Morsberger; Hannah Lee; David Petersen; John Quackenbush; Alan L Scott; Michael Wilson; Yanqin Yang; Shui Q Ye; Wayne Yu
Multiple-laboratory comparison of microarray platforms.
Nature methods 2005;2(5):345-50.
2005: A M Sharp; Ludwine MESSIAEN; G Page; C Antignac; Marie-Claire Gubler; Luiz F Onuchic; Stefan Somlo; Gregory G Germino; Lisa M Guay-Woodford
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Journal of medical genetics 2005;42(4):336-49.
2004: Klaus B Piontek; David L Huso; Alexander Grinberg; Lijuan Liu; Djahida Bedja; Haidan Zhao; Kathleen L Gabrielson; Feng Qian; Changlin Mei; Heiner Westphal; Gregory G Germino
A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo.
Journal of the American Society of Nephrology : JASN 2004;15(12):3035-43.
2004: Luis F Menezes; Yiqiang Cai; Yasuyuki Nagasawa; Ana M G Silva; Mary L Watkins; Aline M Da Silva; Stefan Somlo; Lisa M Guay-Woodford; Gregory G Germino; Luiz F Onuchic
Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm.
Kidney international 2004;66(4):1345-55.
2004: Carsten Bergmann; Jan Senderek; Fabian Küpper; Frank Schneider; Christian Dornia; Ellen Windelen; Thomas Eggermann; Sabine Rudnik-Schöneborn; Jutta Kirfel; Laszlo Furu; Luiz F Onuchic; Sandro Rossetti; Peter C Harris; Stefan Somlo; Lisa M Guay-Woodford; Gregory G Germino; Markus Moser; Reinhard Büttner; Klaus Zerres
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Human mutation 2004;23(5):453-63.
2003: Alessandra Boletta; Gregory G Germino
Role of polycystins in renal tubulogenesis.
Trends in cell biology 2003;13(9):484-92.
2003: Terry Watnick; Gregory G Germino
From cilia to cyst.
Nature genetics 2003;34(4):355-6.
2003: Laszlo Furu; Luiz F Onuchic; Ali G Gharavi; Xiaoying Hou; Ernie L Esquivel; Yasuyuki Nagasawa; Carsten Bergmann; Jan Senderek; Ellis D Avner; Klaus Zerres; Gregory G Germino; Lisa M Guay-Woodford; Stefan Somlo
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
Journal of the American Society of Nephrology : JASN 2003;14(8):2004-14.
2003: Michael Sutters; Gregory G Germino
Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.
The Journal of laboratory and clinical medicine 2003;141(2):91-101.
2003: Carsten Bergmann; Jan Senderek; Beate Sedlacek; Ioannis Pegiazoglou; Patricia Puglia; Thomas Eggermann; Sabine Rudnik-Schöneborn; Laszlo Furu; Luiz F Onuchic; Monica De Baca; Gregory G Germino; Lisa M Guay-Woodford; Stefan Somlo; Markus Moser; Reinhard Büttner; Klaus Zerres
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Journal of the American Society of Nephrology : JASN 2003;14(1):76-89.
2002: Feng Qian; Alessandra Boletta; Anil K Bhunia; Hangxue Xu; Lijuan Liu; Ali K Ahrabi; Terry Watnick; Fang Zhou; Gregory G Germino
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(26):16981-6.
2002: Yasuyuki Nagasawa; Sonja Matthiesen; Luiz F Onuchic; Xiaoying Hou; Carsten Bergmann; Ernie L Esquivel; Jan Senderek; Zhiyong Ren; Raoul Zeltner; Laszlo Furu; Ellis D Avner; Markus Moser; Stefan Somlo; Lisa M Guay-Woodford; Reinhard Büttner; Klaus Zerres; Gregory G Germino
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene.
Journal of the American Society of Nephrology : JASN 2002;13(9):2246-58.
2002: Luiz F Onuchic; Michal Mrug; Xiaoying Hou; Thomas Eggermann; Carsten Bergmann; Klaus Zerres; Ellis D Avner; Laszlo Furu; Stefan Somlo; Yasuyuki Nagasawa; Gregory G Germino; Lisa M Guay-Woodford
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
American journal of medical genetics 2002;110(4):346-52.
2002: Luiz F Onuchic; Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie L Esquivel; Raoul Zeltner; Sabine Rudnik-Schöneborn; Michal Mrug; William E Sweeney; Ellis D Avner; Klaus Zerres; Lisa M Guay-Woodford; Stefan Somlo; Gregory G Germino
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.
American journal of human genetics 2002;70(5):1305-17.
2002: Anil K Bhunia; Klaus B Piontek; Alessandra Boletta; Lijuan Liu; Feng Qian; Pei Ning Xu; F Joseph Germino; Gregory G Germino
PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.
Cell 2002;109(2):157-68.
2002: Véronique Chauvet; Feng Qian; Nicolas Boute; Yiqiang Cai; Bunyong Phakdeekitacharoen; Luiz F Onuchic; Tania Attié-Bitach; Liliane Guicharnaud; Olivier Devuyst; Gregory G Germino; Marie-Claire Gubler
Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.
The American journal of pathology 2002;160(3):973-83.
2001: Alessandra Boletta; Feng Qian; Luiz F Onuchic; Alessandra Bragonzi; M Cortese; P M Deen; P J Courtoy; Marco Soria; O Devuyst; Lucia Monaco; Gregory G Germino
Biochemical characterization of bona fide polycystin-1 in vitro and in vivo.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2001;38(6):1421-9.
2001: M Kawaguchi; Luiz F Onuchic; X D Li; David Essayan; John T Schroeder; HUIQING XIAO; Mark C Liu; G Krishnaswamy; Gregory G Germino; Shau-Ku Huang
Identification of a novel cytokine, ML-1, and its expression in subjects with asthma.
Journal of immunology (Baltimore, Md. : 1950) 2001;167(8):4430-5.
2001: Bunyong Phakdeekitcharoen; Terry Watnick; Gregory G Germino
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
Journal of the American Society of Nephrology : JASN 2001;12(5):955-63.
2001: York Pei; Andrew D Paterson; K R Wang; Ning He; D Hefferton; Terry Watnick; Gregory G Germino; Patrick Parfrey; S Somlo; Peter St George-Hyslop
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.
American journal of human genetics 2001;68(2):355-63.
2000: K Hanaoka; Feng Qian; Alessandra Boletta; Anil K Bhunia; Klaus B Piontek; L Tsiokas; Vikas P Sukhatme; William B Guggino; Gregory G Germino
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.
Nature 2000;408(6815):990-4.
2000: Alessandra Boletta; Feng Qian; Luiz F Onuchic; Anil K Bhunia; Bunyong Phakdeekitcharoen; K Hanaoka; William B Guggino; Lucia Monaco; Gregory G Germino
Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells.
Molecular cell 2000;6(5):1267-73.
2000: Bunyong Phakdeekitcharoen; Terry Watnick; C Ahn; D Y Whang; B Burkhart; Gregory G Germino
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
Kidney international 2000;58(4):1400-12.
2000: Terry Watnick; Ning He; Kairong Wang; Y Liang; Patrick Parfrey; D Hefferton; Peter St George-Hyslop; Gregory G Germino; York Pei
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
Nature genetics 2000;25(2):143-4.
2000: Yvonne Hofmann; J Becker; F Wright; Ellis D Avner; Michal Mrug; Lisa M Guay-Woodford; Stefan Somlo; Klaus Zerres; Gregory G Germino; Luiz F Onuchic
Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.
European journal of human genetics : EJHG 2000;8(3):163-6.
1999: Luiz F Onuchic; Michal Mrug; A L Lakings; G Muecher; J Becker; Klaus Zerres; Ellis D Avner; M Dixit; Stefan Somlo; Gregory G Germino; Lisa M Guay-Woodford
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.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(12):1175-8.
1999: Terry Watnick; Bunyong Phakdeekitcharoen; A Johnson; MA Gandolph; M Wang; GARY BRIEFEL; Katherine W Klinger; W Kimberling; P Gabow; Gregory G Germino
Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
American journal of human genetics 1999;65(6):1561-71.
1999: David Reynolds; T Hayashi; Y Cai; Barbara Veldhuisen; Terry Watnick; Xose M Lens; T Mochizuki; Feng Qian; Y Maeda; L Li; R Fossdal; Eliecer Coto; G Wu; Martijn H Breuning; Gregory G Germino; Dorien J M Peters; Stefan Somlo
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 1999;10(11):2342-51.
1999: Terry Watnick; Gregory G Germino
Molecular basis of autosomal dominant polycystic kidney disease.
Seminars in nephrology 1999;19(4):327-43.
1999: York Pei; Terry Watnick; Ning He; Kairong Wang; Y Liang; Patrick Parfrey; Gregory G Germino; Peter St George-Hyslop
Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.
Journal of the American Society of Nephrology : JASN 1999;10(7):1524-9.
1999: JH Park; M P Dixit; Luiz F Onuchic; G Wu; A N Goncharuk; S Kneitz; L B Santarina; T Hayashi; Ellis D Avner; Lisa M Guay-Woodford; Klaus Zerres; Gregory G Germino; Stefan Somlo
A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6.
Genomics 1999;57(2):249-55.
1999: Klaus B Piontek; Gregory G Germino
Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(2):194-6.
1998: Terry Watnick; V E Torres; MA Gandolph; Feng Qian; Luiz F Onuchic; Katherine W Klinger; Gregory M Landes; Gregory G Germino
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease.
Molecular cell 1998;2(2):247-51.
1998: Terry Watnick; MA Gandolph; H Weber; H P Neumann; Gregory G Germino
Gene conversion is a likely cause of mutation in PKD1.
Human molecular genetics 1998;7(8):1239-43.
1998: Klaus Zerres; G Mücher; J Becker; C Steinkamm; Sabine Rudnik-Schöneborn; P Heikkilä; J Rapola; R Salonen; Gregory G Germino; Luiz F Onuchic; Stefan Somlo; Ellis D Avner; L A Harman; JM Stockwin; Lisa M Guay-Woodford
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
American journal of medical genetics 1998;76(2):137-44.
1998: G Mücher; J Becker; Michael Knapp; Reinhard Büttner; Markus Moser; Sabine Rudnik-Schöneborn; Stefan Somlo; Gregory G Germino; Luiz F Onuchic; Ellis D Avner; Lisa M Guay-Woodford; Klaus Zerres
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
Genomics 1998;48(1):40-5.
1997: Feng Qian; Gregory G Germino
"Mistakes happen": somatic mutation and disease.
American journal of human genetics 1997;61(5):1000-5.
1997: Terry Watnick; Klaus B Piontek; T M Cordal; H Weber; MA Gandolph; Feng Qian; Xose M Lens; H P Neumann; Gregory G Germino
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Human molecular genetics 1997;6(9):1473-81.
1997: Oxana Ibraghimov-Beskrovnaya; William R Dackowski; Lukas Foggensteiner; Nicholas Coleman; S Thiru; L R Petry; TC Burn; TD Connors; TJ Van Raay; J Bradley; Feng Qian; Luiz F Onuchic; Terry Watnick; Klaus B Piontek; R M Hakim; Gregory M Landes; Gregory G Germino; Richard Sandford; Katherine W Klinger
Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(12):6397-402.
1997: TD Connors; TC Burn; T VanRaay; Gregory G Germino; Katherine W Klinger; Gregory M Landes
Evaluation of DNA sequencing ambiguities using tetramethylammonium chloride hybridization conditions.
BioTechniques 1997;22(6):1088-90.
1997: Feng Qian; F J Germino; Y Cai; X Zhang; Stefan Somlo; Gregory G Germino
PKD1 interacts with PKD2 through a probable coiled-coil domain.
Nature genetics 1997;16(2):179-83.
1997: Xose M Lens; Luiz F Onuchic; G Wu; T Hayashi; M Daoust; T Mochizuki; L B Santarina; JM Stockwin; G Mücher; J Becker; W E Sweeny; Ellis D Avner; Lisa M Guay-Woodford; Klaus Zerres; Stefan Somlo; Gregory G Germino
An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region.
Genomics 1997;41(3):463-6.
1997: Gregory G Germino
Autosomal dominant polycystic kidney disease: a two-hit model.
Hospital practice (1995) 1997;32(3):81-2, 85-8, 91-2 passim.
1996: Feng Qian; Terry Watnick; Luiz F Onuchic; Gregory G Germino
The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.
Cell 1996;87(6):979-87.
1996: T J Van Raay; TC Burn; TD Connors; L R Petry; Gregory G Germino; Katherine W Klinger; Gregory M Landes
A 2.5 kb polypyrimidine tract in the PKD1 gene contains at least 23 H-DNA-forming sequences.
Microbial & comparative genomics 1996;1(4):317-27.
1995: P C Harris; Gregory G Germino; Katherine W Klinger; Gregory M Landes; J van Adelsberg
The PKD1 gene product.
Nature medicine 1995;1(6):493.
1995: Lisa M Guay-Woodford; G Muecher; S D Hopkins; Ellis D Avner; Gregory G Germino; A P Guillot; J Herrin; R Holleman; D A Irons; William Primack
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.
American journal of human genetics 1995;56(5):1101-7.
1994: B Kraus; M Pohlschmidt; A L Leung; Gregory G Germino; A Snarey; M C Schneider; S T Reeders; A M Frischauf
A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1).
Genomics 1994;24(1):27-33.
1994: A Snarey; S Thomas; M C Schneider; S E Pound; N Barton; Alan F Wright; Stefan Somlo; Gregory G Germino; Peter C Harris; S T Reeders
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).
American journal of human genetics 1994;55(2):365-71.
1993: D L Weinstat-Saslow; Gregory G Germino; Stefan Somlo; S T Reeders
A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region.
Genomics 1993;18(3):709-11.
1993: Gregory G Germino; Stefan Somlo
Inherited diseases of the kidney.
Current opinion in nephrology and hypertension 1993;2(3):430-40.
1993: Gregory G Germino; Stefan Somlo; D Weinstat-Saslow; S T Reeders
Positional cloning approach to the dominant polycystic kidney disease gene, PKD1.
Kidney international. Supplement 1993;39():S20-5.
1992: Gregory G Germino; Stefan Somlo
A positional cloning approach to inherited renal disease.
Seminars in nephrology 1992;12(6):541-53.
1992: Gregory G Germino; D Weinstat-Saslow; H Himmelbauer; G A Gillespie; Stefan Somlo; B Wirth; N Barton; K L Harris; A M Frischauf; S T Reeders
The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region.
Genomics 1992;13(1):144-51.
1992: H Himmelbauer; M Pohlschmidt; A Snarey; Gregory G Germino; D Weinstat-Saslow; Stefan Somlo; S T Reeders; A M Frischauf
Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).
Genomics 1992;13(1):35-8.
1992: Stefan Somlo; B Wirth; Gregory G Germino; D Weinstat-Saslow; G A Gillespie; H Himmelbauer; L Steevens; P Coucke; P Willems; L Bachner
Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.
Genomics 1992;13(1):152-8.
1992: Isabella Ceccherini; Giovanni Romeo; S Lawrence; Martijn H Breuning; Peter C Harris; H Himmelbauer; A M Frischauf; G R Sutherland; Gregory G Germino; S T Reeders
Construction of a map of chromosome 16 by using radiation hybrids.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(1):104-8.
1992: Stefan Somlo; Gregory G Germino; B Wirth; D Weinstat-Saslow; N Barton; G A Gillespie; A M Frischauf; S T Reeders
The molecular genetics of autosomal-dominant polycystic kidney disease of the PKD1 type.
Contributions to nephrology 1992;97():101-9.
1991: G A Gillespie; Stefan Somlo; Gregory G Germino; D Weinstat-Saslow; S T Reeders
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.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(10):4289-93.
1991: H Himmelbauer; Gregory G Germino; Isabella Ceccherini; Giovanni Romeo; S T Reeders; A M Frischauf
Saturating the region of the polycystic kidney disease gene with NotI linking clones.
American journal of human genetics 1991;48(2):325-34.
1991: K E Morrison; Gregory G Germino; S T Reeders
Use of the polymerase chain reaction to clone and sequence a cDNA encoding the bovine alpha 3 chain of type IV collagen.
The Journal of biological chemistry 1991;266(1):34-9.
1990: G A Gillespie; Gregory G Germino; Stefan Somlo; D Weinstat-Saslow; M H Breuning; S T Reeders
Cosmid walking and chromosome jumping in the region of PKD1 reveal a locus duplication and three CpG islands.
Nucleic acids research 1990;18(23):7071-5.
1990: R A Wells; Gregory G Germino; S Krishna; V J Buckle; S T Reeders
Telomere-related sequences at interstitial sites in the human genome.
Genomics 1990;8(4):699-704.
1990: Gregory G Germino; N J Barton; J Lamb; Douglas R Higgs; P Harris; G H Xiao; G Scherer; Y Nakamura; S T Reeders
Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.
American journal of human genetics 1990;46(5):925-33.
1989: S T Reeders; Gregory G Germino; G A Gillespie
Mapping the locus of autosomal dominant polycystic kidney disease: diagnostic application.
Clinical chemistry 1989;35(7 Suppl):B13-6.
1989: S T Reeders; Gregory G Germino
The molecular genetics of autosomal dominant polycystic kidney disease.
Seminars in nephrology 1989;9(2):122-34.
1989: S T Reeders; Gregory G Germino; G A Gillespie
Recent advances in the genetics of renal cystic disease.
Molecular biology & medicine 1989;6(1):81-6.
1988: S T Reeders; T Keith; P Green; Gregory G Germino; N J Barton; Ordan Lehmann; V A Brown; P Phipps; J Morgan; J C Bear
Regional localization of the autosomal dominant polycystic kidney disease locus.
Genomics 1988;3(2):150-5.
1988: Giovanni Romeo; Marcella Devoto; G Costa; L Roncuzzi; L Catizone; P Zucchelli; Gregory G Germino; T Keith; D J Weatherall; S T Reeders
A second genetic locus for autosomal dominant polycystic kidney disease.
Lancet 1988;2(8601):8-11.