Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Focal Segmental Glomerulosclerosis[original query] |
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Posttransplant proteinuria due to Apolipoprotein E2 deposition in a kidney allograft. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2021 7 21 (12): 4068-4072. Ramakrishnan Madhuri, Fields Timothy, Zhang Da, Owoyemi Itunu O, Gupta Aditi, Klein Jeffrey A, Herrera Nicholas S, Gupta Mallika, Cibrik Diane |
Degree of foot process effacement in patients with genetic focal segmental glomerulosclerosis: a single-center analysis and review of the literature. Scientific reports 2021 6 11 (1): 12008. Ishizuka Kiyonobu, Miura Kenichiro, Hashimoto Taeko, Kaneko Naoto, Harita Yutaka, Yabuuchi Tomoo, Hisano Masataka, Fujinaga Shuichiro, Omori Tae, Yamaguchi Yutaka, Hattori Motos |
Molecular Analysis of the Kidney From a Patient With COVID-19-Associated Collapsing Glomerulopathy. Kidney medicine 2021 5 3 (4): 653-658. Meliambro Kristin, Li Xuezhu, Salem Fadi, Yi Zhengzi, Sun Zeguo, Chan Lili, Chung Miriam, Chancay Jorge, Vy Ha My T, Nadkarni Girish, Wong Jenny S, Fu Jia, Lee Kyung, Zhang Weijia, He John C, Campbell Kirk |
Course of renal allograft function after diagnosis and treatment of post-transplant lymphoproliferative disorders in pediatric kidney transplant recipients. Pediatric transplantation 2021 May e14042. Zierhut Henriette, Kanzelmeyer Nele, Buescher Anja, Höcker Britta, Mauz-Körholz Christine, Tönshoff Burkhard, Metzler Markus, Pohl Martin, Pape Lars, Maecker-Kolhoff Brit |
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients. Journal of human genetics 2021 3 66 (8): 795-803. Ammar Sawssan, Kanoun Houda, Kammoun Khawla, Domingo-Gallego Andrea, Ruiz Patricia, Lorente-Grandoso Laura, Pybus Marc, Maalej Bayen, Boudawara Tahya, Kamoun Hassen, Ben Hmida Mohamed, Ars Elisabet, Jarraya Faiç |
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3 23 (7): 1219-1224. Schrezenmeier Eva, Kremerskothen Elisa, Halleck Fabian, Staeck Oliver, Liefeldt Lutz, Choi Mira, Schüler Markus, Weber Ulrike, Bachmann Nadine, Grohmann Maik, Wagner Timo, Budde Klemens, Bergmann Carst |
APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. Pediatric nephrology (Berlin, Germany) 2021 3 36 (9): 2747-2757. Zee Jarcy, McNulty Michelle T, Hodgin Jeffrey B, Zhdanova Olga, Hingorani Sangeeta, Jefferson Jonathan Ashley, Gibson Keisha L, Trachtman Howard, Fornoni Alessia, Dell Katherine M, Reich Heather N, Bagnasco Serena, Greenbaum Larry A, Lafayette Richard A, Gipson Debbie S, Brown Elizabeth, Kretzler Matthias, Appel Gerald, Sambandam Kamalanathan K, Tuttle Katherine R, Chen Dhruti, Atkinson Meredith A, Hogan Marie C, Kaskel Frederick J, Meyers Kevin E, O'Toole John, Srivastava Tarak, Sethna Christine B, Hladunewich Michelle A, Lin J J, Nast Cynthia C, Derebail Vimal K, Patel Jiten, Vento Suzanne, Holzman Lawrence B, Athavale Ambarish M, Adler Sharon G, Lemley Kevin V, Lieske John C, Hogan Jonathan J, Gadegbeku Crystal A, Fervenza Fernando C, Wang Chia-Shi, Matar Raed Bou, Singer Pamela, Kopp Jeffrey B, Barisoni Laura, Sampson Matthew |
APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses. Pediatric nephrology (Berlin, Germany) 2021 2 36 (8): 2327-2336. Watanabe Andreia, Guaragna Mara Sanches, Belangero Vera Maria Santoro, Casimiro Fernanda Maria Serafim, Pesquero João Bosco, de Santis Feltran Luciana, Palma Lilian Monteiro Pereira, Varela Patrícia, de Menezes Neves Precil Diego Miranda, Lerario Antonio Marcondes, de Souza Marcela Lopes, de Mello Maricilda Palandi, de Brito Lutaif Anna Cristina Gervásio, Ferrari Cassio Rodrigues, Sampson Matthew Gordon, Onuchic Luiz Fernando, Nogueira Paulo Cesar Ko |
End-stage renal disease in a child with focal segmental glomerulosclerosis associated with a homozygous NUP93 variant. Clinical case reports 2021 11 9 (11): e05111. Acharya Ratna, Upadhyay Kir |
Integrated genomic, transcriptomic and metabolomic analysis reveals MDH2 mutation-induced metabolic disorder in recurrent focal segmental glomerulosclerosis. Frontiers in immunology 2022 9 13 962986. Shen Qixia, Teng Lisha, Wang Yucheng, Guo Luying, Xu Feng, Huang Hongfeng, Xie Wenqing, Zhou Qin, Chen Ying, Wang Junwen, Mao Youying, Chen Jianghua, Jiang Ho |
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience. Frontiers in medicine 2022 9 9 957733. ?omi? Jasmina, Riedhammer Korbinian M, Günthner Roman, Schaaf Christian W, Richthammer Patrick, Simmendinger Hannes, Kieffer Donald, Berutti Riccardo, Tasic Velibor, Abazi-Emini Nora, Nushi-Stavileci Valbona, Putnik Jovana, Stajic Nataša, Lungu Adrian, Gross Oliver, Renders Lutz, Heemann Uwe, Braunisch Matthias C, Meitinger Thomas, Hoefele Jul |
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa. European journal of pediatrics 2022 Oct 181 (10): 3595-3606. Nandlal Louansha, Winkler Cheryl A, Bhimma Rajendra, Cho Sungkweon, Nelson George W, Haripershad Sudesh, Naicker Thajasvar |
Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study. Journal of pediatric genetics 2022 8 11 (3): 185-191. Singh Akanksha, Singh Ankur, Mishra Om Prakash, Prasad Rajniti, Narayan Gopeshwar, Batra Vineeta V, Tabatabaeifar Mansoureh, Schaefer Fra |
Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 0 32 (6): 1615-1627. El-Refaey Ahmed M, Elsamanoudy Ayman Z, Elmorsy Zakarya, Gaber Eman, Sarhan Amr, Hammad Aymman, Zedan Mohamed M, Bakr Ashr |
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect. Molecular genetics and genomics : MGG 2022 3 297 (3): 689-698. Thomas Manal M, Ahmed Heba Mostafa, El-Dessouky Sara H, Ramadan Abeer, Botrous Osama Ezzat, Abdel-Hamid Mohamed |
A Case of COVID-Associated Nephropathy (COVAN). Cureus 2022 12 14 (10): e30872. Craig Taylor, Ansari Moiz, Foster Parker, Abdelgadir Yasir, Abdelghani Amro, Jha Pin |
Incorporation of Genetic Studies in the Kidney Transplant Evaluation Clinic: The Value of a Multidisciplinary Approach. Transplantation 2022 10 . El Ters Mireille, Pinto E Vairo Filippo, Prochnow Carri, Schinstock Carrie, Dean Patrick, Kemppainen Jennifer, Lazaridis Konstantinos, Cosio Fernando, Fervenza Fernando C, Cornell Lynn, Amer Hatem, Hogan Marie |
High risk APOL1 genotypes and kidney disease among treatment naïve HIV patients at Kano, Nigeria. PloS one 2022 17 (10): e0275949. Abdu Aliyu, Duarte Raquel, Dickens Caroline, Dix-Peek Therese, Bala Sunusi M, Ademola Babatunde, Naicker Saralade |
A broad clinical spectrum of PLC?1-related kidney disease and intrafamilial variability. Pediatric nephrology (Berlin, Germany) 2022 1 37 (8): 1855-1866. Y?lmaz Esra Karaba?, Saygili Seha, Gulhan Bora, Canpolat Nur, Bayaz?t Aysun Karabay, Kilic Beltinge Demircioglu, Ak?nc? Nurver, Benzer Meryem, Goknar Nilufer, Tufan Asli Kavaz, Kalyoncu Mukaddes, Nalcacioglu Hulya, Tekcan Demet, Y?ld?z Gizem, Agbas Ayse, Nay?r Ahmet, Topaloglu Rezan, Caliskan Salim, Ozaltin Fat |
[Genetic analysis of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1155-1159. Xuhui Sun, Min Xin, Jingmei Tian, Yingying Zhang, Qinqin Jiao, Yong Yang, Jinxiu L |
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. medRxiv : the preprint server for health sciences 2023 8 . Yask Gupta, David J Friedman, Michelle McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L Knob, Tze Y Lim, Gerald B Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J Cohen, Russell J Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey Dube, Ninad S Chaudhary, Orlando M Gutiérrez, Suzanne E Judd, Mary Cushman, Leslie A Lange, Ethan M Lange, Daniel L Bivona, Miguel Verbitsky, Cheryl A Winkler, Jeffrey B Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes E Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D D'Agati, Riccardo Magistroni, Eimear E Kenny, Ruth J F Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S Paul, Slavé Petrovski, David B Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G Gharavi, Krzysztof Kiryluk, Matthew G Sampson, Martin R Pollak, Simone Sanna-Cherc |
Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children. Frontiers in pediatrics 2023 8 11 1192021. Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Li |
The metabolic effects of APOL1 in humans. Pflugers Archiv : European journal of physiology 2023 6 1-22. María M Adeva-Andany, Raquel Funcasta-Calderón, Carlos Fernández-Fernández, Eva Ameneiros-Rodríguez, Matilde Vila-Altesor, Elvira Castro-Quinte |
Early recurrence of focal segmental glomerulosclerosis in a kidney transplant recipient with APOL1 one risk variant. BMJ case reports 2023 5 16 (5): . Ratna Acharya, Kiran Upadhy |
The role of HLA antigens in recurrent primary focal segmental glomerulosclerosis. Frontiers in immunology 2023 3 14 1124249. Batal Ibrahim, Khairallah Pascale, Weins Astrid, Andeen Nicole K, Stokes Michael |
Rapid Progression of Focal Segmental Glomerulosclerosis in Patients with High-Risk APOL1 Genotypes. Clinical journal of the American Society of Nephrology : CJASN 2023 2 18 (3): 344-355. Kallash Mahmoud, Wang Yujie, Smith Abigail, Trachtman Howard, Gbadegesin Rasheed, Nester Carla, Canetta Pietro, Wang Chen, Hunley Tracy E, Sperati C John, Selewski David, Ayoub Isabelle, Srivastava Tarak, Mottl Amy K, Kopp Jeffrey, Gillespie Brenda, Robinson Bruce, Chen Dhruti, Steinke Julia, Twombley Katherine, Reidy Kimberly, Mucha Krzysztof, Greenbaum Larry A, Blazius Brooke, Helmuth Margaret, Yonatan Peleg, Parekh Rulan S, Hogan Susan, Royal Virginie, D'Agati Vivette, Chishti Aftab, Falk Ronald, Gharavi Ali, Holzman Lawrence, Klein Jon, Smoyer William, Kretzler Matthias, Gipson Debbie, Kidd Jason M, |
CR1 variants contribute to FSGS susceptibility across multiple populations. medRxiv : the preprint server for health sciences 2023 12 . Rostislav Skitchenko, Zora Modrusan, Alexander Loboda, Jeffrey B Kopp, Cheryl A Winkler, Alexey Sergushichev, Namrata Gupta, Christine Stevens, Mark J Daly, Andrey Shaw, Mykyta Artom |
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nature communications 2023 11 14 (1): 7836. Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L Knob, Tze Y Lim, Gerald B Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J Cohen, Russell J Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K Dube, Ninad S Chaudhary, Orlando M Gutiérrez, Suzanne E Judd, Mary Cushman, Leslie A Lange, Ethan M Lange, Daniel L Bivona, Miguel Verbitsky, Cheryl A Winkler, Jeffrey B Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes E Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D D'Agati, Riccardo Magistroni, Eimear E Kenny, Ruth J F Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S Paul, Slavé Petrovski, David B Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G Gharavi, Krzysztof Kiryluk, Matthew G Sampson, Martin R Pollak, Simone Sanna-Cherc |
Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2023 1 . Durand Axelle, Winkler Cheryl A, Vince Nicolas, Douillard Venceslas, Geffard Estelle, Binns-Roemer Elizabeth, Ng Derek K, Gourraud Pierre-Antoine, Reidy Kimberley, Warady Bradley, Furth Susan, Kopp Jeffrey B, Kaskel Frederick J, Limou Soph |
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood. Frontiers in medicine 2024 1 10 1320054. Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudí?ková, Karel Krej?í, Jana Reiterová, Eva Jan?ová, Jana Machová, Martina Kollárová, Ivan Rychík, Martin Havrda, Miroslava Horá?ková, Martina Putzová, Roman Šafránek, Marek Kollár, Milan Mac |
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- Page last updated:Apr 22, 2024
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