Full Text Journal Articles by
Author Matthew G Sampson

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Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.

Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin, Michelle T McNulty, Kyuyong Song, China Nagano, Yuki Hitomi, Dongwon Lee, Yoshihiro Aiba, Seik-Soon Khor, Kazuko Ueno, Yosuke Kawai, Masao Nagasaki, Eisei Noiri, Tomoko Horinouchi, Hiroshi Kaito, Riku Hamada, Takayuki Okamoto, Koichi Kamei, Yoshitsugu Kaku, Rika Fujimaru, Ryojiro Tanaka, Yuko Shima, , Jiwon Baek, Hee Gyung Kang, Il-Soo Ha, Kyoung Hee Han, Eun Mi Yang, , Asiri Abeyagunawardena, Brandon Lane, Megan Chryst-Stangl, Christopher Esezobor, Adaobi Solarin, , Claire Dossier, Georges Deschênes, , Marina Vivarelli, Hanna Debiec, Kenji Ishikura, Masafumi Matsuo, Kandai Nozu, Pierre Ronco, Hae Il Cheong, Matthew G Sampson, Katsushi Tokunaga, Kazumoto Iijima,

To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ region, common variants in NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR) =1.90) and TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions ... Read more >>

Kidney Int. (Kidney International)
[2020, :]

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Diagnoses of uncertain significance: kidney genetics in the 21st century.

Daniel P Gale, Andrew Mallett, Chirag Patel, Tam P Sneddon, Heidi L Rehm, Matthew G Sampson, Detlef Bockenhauer,

Nat Rev Nephrol (Nature reviews. Nephrology)
[2020, :]

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Introduction to Genomics of Kidney Disease: Implications, Discovery, and Translation.

Matthew G Sampson, Caroline S Fox,

Clin J Am Soc Nephrol (Clinical journal of the American Society of Nephrology : CJASN)
[2020, 15(2):267]

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Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI).

Luciana S Feltran, Andreia Watanabe, Mara S Guaragna, Ivan C Machado, Fernanda M S Casimiro, Precil D M M Neves, Lilian M Palma, Patrícia Varela, Maria H Vaisbich, Suely K N Marie, Inalda Facincani, João B Pesquero, Vera M S Belangero, Matthew G Sampson, Paulo C Koch Nogueira, Luiz F Onuchic,

Kidney Int Rep (Kidney International Reports)
[2020, 5(3):358-362]

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Urinary Epidermal Growth Factor as a Marker of Disease Progression in Children With Nephrotic Syndrome.

Debbie S Gipson, Howard Trachtman, Anne Waldo, Keisha L Gibson, Sean Eddy, Katherine M Dell, Tarak Srivastava, Kevin V Lemley, Larry A Greenbaum, Sangeeta Hingorani, Kevin E Meyers, Frederick J Kaskel, Kimberly J Reidy, Christine B Sethna, Cheryl L Tran, Chia-Shi Wang, Katherine R Tuttle, Gia Oh, Alicia M Neu, Elizabeth Brown, Jen-Jar Lin, Jennifer Lai Yee, Therese M Roth, Jonathan P Troost, Brenda W Gillespie, Matthew G Sampson, Matthias Kretzler, Wenjun Ju,

Introduction:Childhood-onset nephrotic syndrome has a variable clinical course. Improved predictive markers of long-term outcomes in children with nephrotic syndrome are needed. This study tests the association between baseline urinary epidermal growth factor (uEGF) excretion and longitudinal kidney function in children with nephrotic syndrome. Methods:The study evaluated 191 participants younger than ... Read more >>

Kidney Int Rep (Kidney International Reports)
[2020, 5(4):414-425]

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Using and producing publicly available genomic data to accelerate discovery in nephrology.

Matthew G Sampson, Hyun Min Kang,

Nat Rev Nephrol (Nature reviews. Nephrology)
[2019, 15(9):523-524]

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Author Correction: Using and producing publicly available genomic data to accelerate discovery in nephrology.

Matthew G Sampson, Hyun Min Kang,

An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Read more >>

Nat Rev Nephrol (Nature reviews. Nephrology)
[2019, 15(9):590]

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Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation.

Olivia R Wood, Tobias Else, Matthew G Sampson,

Pathogenic variants in the RET gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted RET sequencing found the same pathogenic variant p.C618S in the child as her mother. ... Read more >>

BMJ Case Rep (BMJ case reports)
[2019, 12(8):]

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Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses.

Mark W Russell, Julie S Moldenhauer, Jack Rychik, Nancy B Burnham, Erin Zullo, Samuel I Parry, Rebecca A Simmons, Michal A Elovitz, Susan C Nicolson, Rebecca L Linn, Mark P Johnson, Sunkyung Yu, Matthew G Sampson, Hakon Hakonarson, J William Gaynor,

The placenta is a highly vascular structure composed of both maternal and fetal elements. We have determined that damaging variants in genes responsible for the positive regulation of angiogenesis (PRA) (GO:0045766) that are inherited by the fetus impair fetal growth and placental function in pregnancies involving critical congenital cardiac defects ... Read more >>

Data Brief (Data in brief)
[2019, 25:104311]

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Damaging Variants in Proangiogenic Genes Impair Growth in Fetuses with Cardiac Defects.

Mark W Russell, Julie S Moldenhauer, Jack Rychik, Nancy B Burnham, Erin Zullo, Samuel I Parry, Rebecca A Simmons, Michal A Elovitz, Susan C Nicolson, Rebecca L Linn, Mark P Johnson, Sunkyung Yu, Matthew G Sampson, Hakon Hakonarson, J William Gaynor,

OBJECTIVE:To determine the impact of damaging genetic variation in proangiogenic pathways on placental function, complications of pregnancy, fetal growth, and clinical outcomes in pregnancies with fetal congenital heart defect. STUDY DESIGN:Families delivering a baby with a congenital heart defect requiring surgical repair in infancy were recruited. The placenta and neonate ... Read more >>

J. Pediatr. (The Journal of pediatrics)
[2019, 213:103-109]

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Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

Sarah E Graham, Jonas B Nielsen, Matthew Zawistowski, Wei Zhou, Lars G Fritsche, Maiken E Gabrielsen, Anne Heidi Skogholt, Ida Surakka, Whitney E Hornsby, Damian Fermin, Daniel B Larach, Sachin Kheterpal, Chad M Brummett, Seunggeun Lee, Hyun Min Kang, Goncalo R Abecasis, Solfrid Romundstad, Stein Hallan, Matthew G Sampson, Kristian Hveem, Cristen J Willer,

Chronic kidney disease (CKD) is a growing health burden currently affecting 10-15% of adults worldwide. Estimated glomerular filtration rate (eGFR) as a marker of kidney function is commonly used to diagnose CKD. We analyze eGFR data from the Nord-Trøndelag Health Study and Michigan Genomics Initiative and perform a GWAS meta-analysis ... Read more >>

Nat Commun (Nature communications)
[2019, 10(1):1847]

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Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasa, Jun Y Zhang, Young-Ji Na, Tze Y Lim, Dina Ahram, Patricia L Weng, Erin L Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G Dobson, John M Darlow, Prem Puri, David E Barton, Susan L Furth, Bradley A Warady, Zoran Gucev, Vladimir J Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M Rodas, Josep M Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S Wong, Fangming Lin, Débora M Miranda, Eduardo A Oliveira, Ana Cristina Simoes-E-Silva, Jonathan M Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E Papaioannou, Cathy L Mendelsohn, Ali G Gharavi, Simone Sanna-Cherchi,

In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of the article. ... Read more >>

Nat. Genet. (Nature genetics)
[2019, 51(4):764]

Cited: 1 time

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Genetics of Nephrotic Syndrome Presenting in Childhood: Core Curriculum 2019.

Andreia Watanabe, Luciana S Feltran, Matthew G Sampson,

Nephrotic syndrome (NS) is one of the most challenging conditions to manage and treat, partly because we lack a specific molecular understanding of its pathogenesis and progression. This limits our ability to provide targeted therapy or precise prognostications. Fortunately, genomic discovery in NS and its translation to genomic-informed medicine is ... Read more >>

Am. J. Kidney Dis. (American journal of kidney diseases : the official journal of the National Kidney Foundation)
[2019, 74(4):549-557]

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Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.

Karsten B Sieber, Anna Batorsky, Kyle Siebenthall, Kelly L Hudkins, Jeff D Vierstra, Shawn Sullivan, Aakash Sur, Michelle McNulty, Richard Sandstrom, Alex Reynolds, Daniel Bates, Morgan Diegel, Douglass Dunn, Jemma Nelson, Michael Buckley, Rajinder Kaul, Matthew G Sampson, Jonathan Himmelfarb, Charles E Alpers, Dawn Waterworth, Shreeram Akilesh,

BACKGROUND:Linking genetic risk loci identified by genome-wide association studies (GWAS) to their causal genes remains a major challenge. Disease-associated genetic variants are concentrated in regions containing regulatory DNA elements, such as promoters and enhancers. Although researchers have previously published DNA maps of these regulatory regions for kidney tubule cells and ... Read more >>

J. Am. Soc. Nephrol. (Journal of the American Society of Nephrology : JASN)
[2019, :]

Cited: 2 times

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Glomerular and tubulointerstitial eQTLs for genomic discovery.

Matthew G Sampson,

Nat Rev Nephrol (Nature reviews. Nephrology)
[2019, 15(1):3-4]

Cited: 0 times

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y Zhang, Young-Ji Na, Tze Y Lim, Dina Ahram, Patricia L Weng, Erin L Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G Dobson, John M Darlow, Prem Puri, David E Barton, Susan L Furth, Bradley A Warady, Zoran Gucev, Vladimir J Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M Rodas, Josep M Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S Wong, Fangming Lin, Débora M Miranda, Eduardo A Oliveira, Ana Cristina Simões-E-Silva, Jonathan M Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E Papaioannou, Cathy L Mendelsohn, Ali G Gharavi, Simone Sanna-Cherchi,

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were ... Read more >>

Nat. Genet. (Nature genetics)
[2019, 51(1):117-127]

Cited: 7 times

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An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome.

Christopher E Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T McNulty, , Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G Sampson,

Expression quantitative trait loci (eQTL) studies illuminate the genetics of gene expression and, in disease research, can be particularly illuminating when using the tissues directly impacted by the condition. In nephrology, there is a paucity of eQTL studies of human kidney. Here, we used whole-genome sequencing (WGS) and microdissected glomerular ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2018, 103(2):232-244]

Cited: 20 times

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UBD modifies APOL1-induced kidney disease risk.

Jia-Yue Zhang, Minxian Wang, Lei Tian, Giulio Genovese, Paul Yan, James G Wilson, Ravi Thadhani, Amy K Mottl, Gerald B Appel, Alexander G Bick, Matthew G Sampson, Seth L Alper, David J Friedman, Martin R Pollak,

People of recent African ancestry develop kidney disease at much higher rates than most other groups. Two specific coding variants in the Apolipoprotein-L1 gene APOL1 termed G1 and G2 are the causal drivers of much of this difference in risk, following a recessive pattern of inheritance. However, most individuals with ... Read more >>

Proc. Natl. Acad. Sci. U.S.A. (Proceedings of the National Academy of Sciences of the United States of America)
[2018, 115(13):3446-3451]

Cited: 9 times

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A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.

Karl L Skorecki, Jessica H Lee, Carl D Langefeld, Saharon Rosset, Shay Tzur, Walter G Wasser, Revital Shemer, Gregory A Hawkins, Jasmin Divers, Rulan S Parekh, Man Li, Matthew G Sampson, Matthias Kretzler, Martin R Pollak, Shrijal Shah, Daniel Blackler, Brendan Nichols, Michael Wilmot, Seth L Alper, Barry I Freedman, David J Friedman,

Background:Inheritance of apolipoprotein L1 gene (APOL1) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1-associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk ... Read more >>

Nephrol. Dial. Transplant. (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association)
[2018, 33(2):323-330]

Cited: 3 times

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Meeting report of the 2017 KidGen Renal Genetics Symposium.

Kushani Jayasinghe, Cathy Quinlan, Zornitza Stark, Chirag Patel, Matthew G Sampson, Moin Saleem, Andrew J Mallett, ,

The 2017 KidGen Renal Genetics Symposium was held at the Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, from 6 to 8 December 2017. This meeting addressed clinical, diagnostic, and research aspects of inherited kidney disease. More than 100 clinicians, researchers, and patient representatives attended the conference. The overall ... Read more >>

Hum. Genomics (Human genomics)
[2018, 12(1):5]

Cited: 1 time

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The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome.

Matthew G Sampson,

Transplantation (Transplantation)
[2017, 101(12):2814-2815]

Cited: 0 times

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi,

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(6):1034]

Cited: 2 times

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An investigation of APOL1 risk genotypes and preterm birth in African American population cohorts.

Catherine C Robertson, Christopher E Gillies, Rosemary K B Putler, Derek Ng, Kimberly J Reidy, Brendan Crawford, Matthew G Sampson,

Background:Two genetic variants in apolipoprotein L1 (APOL1) are associated with increased risk of focal segmental glomerulosclerosis as well as other glomerular phenotypes. These risk variants are common in individuals of African ancestry but absent in other racial groups. Yet, the majority of individuals with two APOL1 risk alleles [high-risk (HR) ... Read more >>

Nephrol. Dial. Transplant. (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association)
[2017, 32(12):2051-2058]

Cited: 4 times

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi,

Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2017, 101(5):789-802]

Cited: 8 times

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A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.

Joseph Wang, Beth Vogt, Sidharth Kumar Sethi, Matthew G Sampson, Virginia Vega-Warner, Edgar A Otto, Rupesh Raina,

Kidney Int Rep (Kidney International Reports)
[2017, 2(6):1238-1242]

Cited: 0 times

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