Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Pavel N. Pichurin"'
Autor:
Filippo Pinto e Vairo, Carri Prochnow, Jennifer L. Kemppainen, Emily C. Lisi, Joan M. Steyermark, Teresa M. Kruisselbrink, Pavel N. Pichurin, Rhadika Dhamija, Megan M. Hager, Sam Albadri, Lynn D. Cornell, Konstantinos N. Lazaridis, Eric W. Klee, Sarah R. Senum, Mireille El Ters, Hatem Amer, Linnea M. Baudhuin, Ann M. Moyer, Mira T. Keddis, Ladan Zand, David J. Sas, Stephen B. Erickson, Fernando C. Fervenza, John C. Lieske, Peter C. Harris, Marie C. Hogan
Publikováno v:
Kidney Medicine, Vol 3, Iss 5, Pp 785-798 (2021)
Rationale & Objective: The etiology of kidney disease remains unknown in many individuals with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics Clinic to improve our ability to integrate genomic and clinical data to identi
Externí odkaz:
https://doaj.org/article/04c369ed9d8440b18c17f55de117a3b3
Autor:
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) k
Externí odkaz:
https://doaj.org/article/5adc8386c8d1429f839e2fa730c80d99
Autor:
Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background GNB1 encodes a subunit of a heterotrimeric G‐protein complex that transduces intracellular signaling cascades. Disruptions to the gene have previously been shown to be embryonic lethal in knockout mice and to cause complex neuro
Externí odkaz:
https://doaj.org/article/fe7e66d8dd3c450096d3d2ed8e80544c
Autor:
Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 46-51 (2017)
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations.
Externí odkaz:
https://doaj.org/article/d26ea23ea17a48b6a33115ca1f65c5e9
Autor:
Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Elena B. Riel, Katherine E. Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fischer, Alice Gardham, Carrie Lahner, Paul R. Mark, Srikanth Muppidi, Pavel N. Pichurin, Joseph Porrmann, Jens Schallner, Kirstin Smith, Volker Straub, Pradeep Vasudevan, Rebecca Willaert, Elisabeth P. Carpenter, Karin E. J. Rödström, Michael G. Hahn, Thomas Müller, Thomas Baukrowitz, Matthew E. Hurles, Caroline F. Wright, Stephen J. Tucker
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K+ channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a new developmental d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de95186b04ef58aa01a12b0a5e88aa3
https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17
https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17
Autor:
Stephen B. Erickson, Andrew Bentall, Mireille El Ters, Pavel N. Pichurin, Fernando C. Fervenza, Marie C. Hogan, Loren P. Herrera Hernandez, Ladan Zand, Jing Miao, Aleksandra Kukla, Eddie L. Greene, Konstantinos N. Lazaridis, Carri A. Prochnow, Sanjeev Sethi, Filippo Vairo, Emily C. Lisi
Publikováno v:
Mayo Clinic Proceedings. 96:2342-2353
Objective To increase the likelihood of finding a causative genetic variant in patients with a focal segmental glomerulosclerosis (FSGS) lesion, clinical and histologic characteristics were analyzed. Patients and Methods Individuals 18 years and olde
Autor:
Rory J. Olson, Jane Juusola, Mark Flage, Carlos E. Prada, Srikar Kuppa, Gustavo Adolfo Contreras-García, Camilo A. Peñaloza-Mantilla, Maria J. Guillen Sacoto, Gail E. Graham, Lindsay Rhodes, James Liu, Pavel N. Pichurin, Michael Marble, Regina M. Zambrano, Wendy K. Chung, Parul Jayakar, Matthew J. Schultz, Mary Ella M Pierpont, Karina A. Campo-Neira, Matthew Osmond, Ingrid M. Wentzensen, Sairah Yousaf, Robert B. Hufnagel, Rhonda E. Schnur, Nara Sobreira, Maria I. Scarano, Karina Navarro
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies adjacent to th
Autor:
Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M. AlAsmari, Mohammed M. Saleh, Filippo Pinto e Vairo, Pavel N. Pichurin, Eric W. Klee, Christopher T. Schmitz, Christopher M. Grochowski, Tadahiro Mitani, Isabella Herman, Daniel G. Calame, Jawid M. Fatih, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, Satoko Miyatake, Naomichi Matsumoto, Laura J. Wagstaff, Jennifer E. Posey, James R. Lupski, Dies Meijer, Matias Wagner
Publikováno v:
Am J Hum Genet
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)
Marafi, D, Kozar, N, Duan, R, Bradley, S, Yokochi, K, Al Mutairi, F, Waill Saadi, N, Whalen, S, Brune, T, Kotzaeridou, U, Choukair, D, Keren, B, Nava, C, Kato, M, Arai, H, Froukh, T, Faqeih, E A, AlAsmari, A M, Saleh, M M, Vairo, F P E, Pichurin, P N, Klee, E W, Schmitz, C T, Grochowski, C M, Mitani, T, Herman, I, Calame, D, Faith, J M, Du, H, Coban-Akdemir, Z, Pehlivan, D, Jhangiani, S N, Gibbs, R A, Miyatake, S, Matsumoto, N, Wagstaff, L J, Posey, J E, Lupski, J R, Meijer, D & Wagner, M 2022, ' A reverse Genetics and Genomics Approach to Gene Paralog Function and Disease : Myokymia and The Juxtaparanode ', American Journal of Human Genetics, vol. 109 . https://doi.org/10.1016/j.ajhg.2022.07.006
Am. J. Hum. Genet. 109, 1713-1723 (2022)
The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune li
Autor:
Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
Publikováno v:
Genetics in Medicine. 25:100359
Purpose Exome sequencing often identifies pathogenic genetic variants in patients with undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance necessitate additional efforts to establish causality before reaching a
Autor:
Samih H. Nasr, Pavel N. Pichurin, Filippo Vairo, Christopher T. Schmitz, Eric W. Klee, Kevin Mills, Fernando C. Fervenza, Sandra M. Herrmann
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-5 (2020)
BMC Nephrology
BMC Nephrology
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as N