Search Results - "Onuchic, Luiz F"

Ppia is the most stable housekeeping gene for qRT-PCR normalization in kidneys of three Pkd1-deficient mouse models by Muñoz, Juan J., Anauate, Ana C., Amaral, Andressa G., Ferreira, Frederico M., Watanabe, Elieser H., Meca, Renata, Ormanji, Milene S., Boim, Mirian A., Onuchic, Luiz F., Heilberg, Ita P.

“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disorder, characterized by renal cyst development leading to end-stage…”
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Smoking accelerates renal cystic disease and worsens cardiac phenotype in Pkd1-deficient mice by Sousa, Marciana V., Amaral, Andressa G., Freitas, Jessica A., Murata, Gilson M., Watanabe, Elieser H., Balbo, Bruno E., Tavares, Marcelo D., Hortegal, Renato A., Rocon, Camila, Souza, Leandro E., Irigoyen, Maria C., Salemi, Vera M., Onuchic, Luiz F.

“…Smoking has been associated with renal disease progression in ADPKD but the underlying deleterious mechanisms and whether it specifically worsens the cardiac…”
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Schistosoma mansoni infection as a trigger to collapsing glomerulopathy in a patient with high-risk APOL1 genotype by Neves, Precil D, Bridi, Ramaiane A, Ramalho, Janaína A, Jorge, Lectícia B, Watanabe, Elieser H, Watanabe, Andreia, Yu, Luis, Woronik, Viktoria, Pinheiro, Rafaela B, Testagrossa, Leonardo A, Cavalcante, Lívia B, Malheiros, Denise M, Dias, Cristiane B, Onuchic, Luiz F

“…Schistosoma mansoni schistosomiasis (SM) remains a public health problem in Brazil. Renal involvement is classically manifested as a glomerulopathy, most often…”
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Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 by Boddu, Ravindra, Yang, Chaozhe, O’Connor, Amber K., Hendrickson, Robert Curtis, Boone, Braden, Cui, Xiangqin, Garcia-Gonzalez, Miguel, Igarashi, Peter, Onuchic, Luiz F., Germino, Gregory G., Guay-Woodford, Lisa M.

“…Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1 , are…”
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Caffeine Accelerates Cystic Kidney Disease in a Pkd1-Deficient Mouse Model by Meca, Renata, Balbo, Bruno E, Ormanji, Milene Subtil, Fonseca, Jonathan M, Iannuzzi, Leandro R, Santana Costa, Eliene, Onuchic, Luiz F, Heilberg, Ita Pfeferman

“…Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive cyst formation and growth, leading to end-stage renal disease. A higher…”
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NEDD4-family E3 ligase dysfunction due to PKHD1/Pkhd1 defects suggests a mechanistic model for ARPKD pathobiology by Kaimori, Jun-ya, Lin, Cheng-Chao, Outeda, Patricia, Garcia-Gonzalez, Miguel A., Menezes, Luis F., Hartung, Erum A., Li, Ao, Wu, Guanqing, Fujita, Hideaki, Sato, Yasunori, Nakanuma, Yasuni, Yamamoto, Satoko, Ichimaru, Naotsugu, Takahara, Shiro, Isaka, Yoshitaka, Watnick, Terry, Onuchic, Luiz F., Guay-Woodford, Lisa M., Germino, Gregory G.

“…Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes…”
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Renal cyst growth is the main determinant for hypertension and concentrating deficit in Pkd1-deficient mice by Fonseca, Jonathan M, Bastos, Ana P, Amaral, Andressa G, Sousa, Mauri F, Souza, Leandro E, Malheiros, Denise M, Piontek, Klaus, Irigoyen, Maria C, Watnick, Terry J, Onuchic, Luiz F

“…We have bred a Pkd1 floxed allele with a nestin-Cre expressing line to generate cystic mice with preserved glomerular filtration rate to address the…”
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Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway by Garcia-Gonzalez, Miguel A., Menezes, Luis F., Piontek, Klaus B., Kaimori, Junya, Huso, David L., Watnick, Terry, Onuchic, Luiz F., Guay-Woodford, Lisa M., Germino, Gregory G.

“…Polycystic kidney disease (PKD) describes a heterogeneous collection of disorders that differ significantly with respect to their etiology and clinical…”
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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 by Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, Bergmann, Carsten, Senderek, Jan, Esquivel, Ernie, Zeltner, Raoul, Rudnik-Schöneborn, Sabine, Mrug, Michael, Sweeney, William, Avner, Ellis D., Zerres, Klaus, Guay-Woodford, Lisa M., Somlo, Stefan, Germino, Gregory G.

“…Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that…”
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Polyductin undergoes notch-like processing and regulated release from primary cilia by Kaimori, Jun-ya, Nagasawa, Yasuyuki, Menezes, Luis F., Garcia-Gonzalez, Miguel A., Deng, Jie, Imai, Enyu, Onuchic, Luiz F., Guay-Woodford, Lisa M., Germino, Gregory G.

“…Mutations at a single locus, PKHD1, are responsible for causing human autosomal recessive polycystic kidney disease (ARPKD). Recent studies suggest that the…”
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Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1 by Gallagher, Anna-Rachel, Esquivel, Ernie L, Briere, Tiffany S, Tian, Xin, Mitobe, Michihiro, Menezes, Luis F, Markowitz, Glen S, Jain, Dhanpat, Onuchic, Luiz F, Somlo, Stefan

“…Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and the biliary tract. Mutations in the PKHD1 gene…”
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Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm by Menezes, Luís F.C., Cai, Yiqiang, Nagasawa, Yasuyuki, Silva, Ana M.G., Watkins, Mary L., Da Silva, Aline M., Somlo, Stefan, Guay-Woodford, Lisa M., Germino, Gregory G., Onuchic, Luiz F.

“…Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. PKHD1, the autosomal-recessive polycystic…”
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The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I by Qian, Feng, Watnick, Terry J, Onuchic, Luiz F, Germino, Gregory G

“…Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an important cause of renal failure. It is characterized by considerable…”
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Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) by BERGMANN, Carsten, SENDEREK, Jan, GERMINO, Gregory G, GUAY-WOODFORD, Lisa, SOMLO, Stefan, MOSER, Markus, BÜTTNER, Reinhard, ZERRES, Klaus, SEDLACEK, Beate, PEGIAZOGLOU, Ioannis, PUGLIA, Patricia, EGGERMANN, Thomas, RUDNIK-SCHÖNEBORN, Sabine, FURU, Laszlo, ONUCHIC, Luiz F, DE BACA, Monica

“…Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood…”
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Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI) by Feltran, Luciana S., Watanabe, Andreia, Guaragna, Mara S., Machado, Ivan C., Casimiro, Fernanda M.S., Neves, Precil D.M.M., Palma, Lilian M., Varela, Patrícia, Vaisbich, Maria H., Marie, Suely K.N., Facincani, Inalda, Pesquero, João B., Belangero, Vera M.S., Sampson, Matthew G., Koch Nogueira, Paulo C., Onuchic, Luiz F.

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Macromolecular assembly of polycystin-2 intracytosolic C-terminal domain by Ferreira, Frederico M., Oliveira, Leandro C., Germino, Gregory G., Onuchic, José N., Onuchic, Luiz F.

“…Mutations in PKD2 are responsible for approximately 15% of the autosomal dominant polycystic kidney disease cases. This gene encodes polycystin-2, a…”
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Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations by FURU, Laszlo, ONUCHIC, Luiz F, GERMINO, Gregory G, GUAY-WOODFORD, Lisa M, SOMLO, Stefan, GHARAVI, Ali, XIAOYING HOU, ESQUIVEL, Ernie L, NAGASAWA, Yasuyuki, BERGMANN, Carsten, SENDEREK, Jan, AVNER, Ellis, ZERRES, Klaus

“…Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a hereditary and severe form of polycystic disease affecting the kidneys and biliary tract…”
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Pkd1 Haploinsufficiency Increases Renal Damage and Induces Microcyst Formation following Ischemia/Reperfusion by BASTOS, Ana P, PIONTEK, Klaus, SILVA, Ana M, MARTINI, Dino, MENEZES, Luis F, FONSECA, Jonathan M, FONSECA, Ivone I, GERMINO, Gregory G, ONUCHIC, Luiz F

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Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease by Watnick, Terry J, Torres, Vicente E, Gandolph, Michael A, Qian, Feng, Onuchic, Luiz F, Klinger, Katherine W, Landes, Gregory, Germino, Gregory G

“…Autosomal dominant polycystic kidney disease (ADPKD), Type I is a common genetic disorder and an important cause of renal failure. The disease is characterized…”
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Collapsing glomerulopathy following SARS-CoV-2 adenovirus-vector-based vaccine: report of 2 cases by Neves, Precil D, Caires, Renato A, Guimarães, Manoel P, Costalonga, Elerson C, Cavalcante, Livia B, Costa E Silva, Verônica T, Mattedi, Francisco Z, Santana, Leonardo F, Teixeira-Júnior, Antônio A, Gomes, Orlando V, Silva, Gyl E, Burdmann, Emmanuel A, Onuchic, Luiz F

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