Works matching DE "ALPORT syndrome"

Results: 266

Alport Syndrome: From Pathogenesis to a Potential Therapy.

Published in:: PLoS Medicine, 2006, v. 3, n. 4, p. e154, doi. 10.1371/journal.pmed.0030154
Publication type:: Article

Increased calcium oxalate crystal nucleation and aggregation by peroxidized protein of human kidney stone matrix and renal cells.

Published in:

Urological Research, 2001, v. 29, n. 3, p. 194, doi. 10.1007/s002400100177

By:

Govindaraj, A.;
Selvam, R.

Publication type:

Article

A patient with MEN1 and end-stage chronic kidney disease due to Alport syndrome: Decision making on the eligibility of transplantation.

Published in:

Molecular & Clinical Oncology, 2018, v. 8, n. 3, p. 449, doi. 10.3892/mco.2017.1542

By:

Matrone, Antonio;
Brancatella, Alessandro;
Marchetti, Piero;
Vasile, Enrico;
Boggi, Ugo;
Elisei, Rossella;
Cetani, Filomena;
Marcocci, Claudio;
Vitti, Paolo;
Latrofa, Francesco

Publication type:

Article

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 2, p. 197, doi. 10.1093/ckj/sft144

By:

Adam, Jennifer;
Connor, Thomas M. F.;
Wood, Katrina;
Lewis, David;
Naik, Ramesh;
Gale, Daniel P.;
Sayer, John A.

Publication type:

Article

The gene corresponding to the putative Goodpasture antigen is present in Alport's syndrome.

Published in:

Clinical & Experimental Immunology, 1991, v. 85, n. 2, p. 236

By:

Savige, J. A.

Publication type:

Article

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 4, p. 217, doi. 10.1076/1381-6810(200012)21:4;1-H;FT217

By:

Colville, D.;
Wang, Y.Y.;
Jamieson, R.;
Collins, F.;
Hood, Jeni;
Savige, J.

Publication type:

Article

Progressive Posterior Lenticonus in a Patient with Alport Syndrome.

Published in:

2010

By:

Al-Mahmood, Ammar M.;
Al-Swailem, Samar A.;
Al-Khalaf, Abdulrahman;
Al-Binali, Ghada Y.

Publication type:

Case Study

The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children.

Published in:

Fetal & Pediatric Pathology, 2016, v. 35, n. 6, p. 369, doi. 10.1080/15513815.2016.1202362

By:

Baek, Heesun;
Lee, Sang-In;
Park, Taein;
Cho, Minhyun

Publication type:

Article

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.

Published in:

Indian Journal of Medical Research, 2016, v. 144, n. 2, p. 200, doi. 10.4103/0971-5916.195026

By:

Sheng Deng;
Hongbo Xu;
Jinzhong Yuan;
Jingjing Xiao;
Lamei Yuan;
Xiong Deng;
Liping Guan;
Anding Zhu;
Pengfei Rong;
Jianguo Zhang;
Hao Deng

Publication type:

Article

Linking Genetics and Mechanics in Structural Protein Materials: A Case Study of an Alport Syndrome Mutation in Tropocollagen.

Published in:

Mathematics & Mechanics of Solids, 2010, v. 15, n. 7, p. 755, doi. 10.1177/1081286510374550

By:

SRINIVASAN, MAYA;
UZEL, SEBASTIEN G. M.;
GAUTIERI, ALFONSO;
KETEN, SINAN;
BUEHLER, MARKUS J.

Publication type:

Article

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97414-0

By:

Wang, Xiaoyuan;
Zhang, Yanqin;
Ding, Jie;
Wang, Fang

Publication type:

Article

Small RNA sequencing evaluation of renal microRNA biomarkers in dogs with X-linked hereditary nephropathy.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96870-y

By:

Chu, Candice P.;
Liu, Shiguang;
Song, Wenping;
Xu, Ethan Y.;
Nabity, Mary B.

Publication type:

Article

Simultaneous adult polycystic kidney disease and Alport syndrome.

Published in:

Nephrology, 2016, v. 21, n. 8, p. 722, doi. 10.1111/nep.12661

By:

Phelan, Paul J;
Fletcher, Elaine;
Carroll, Nicola;
Metcalfe, Wendy;
Turner, A Neil

Publication type:

Article

The Accumulation of VEGFA in the Glomerular Basement Membrane and Its Relationship with Podocyte Injury and Proteinuria in Alport Syndrome.

Published in:

PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135648

By:

Wang, Haiyan;
Yue, Zhihui;
Wu, Jinlang;
Liu, Ting;
Mo, Ying;
Jiang, Xiaoyun;
Sun, Liangzhong

Publication type:

Article

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132010

By:

Baikara, Barshagul T.;
Zholdybayeva, Elena V.;
Rakhimova, Saule E.;
Nigmatullina, Nazym B.;
Momynaliev, Kuvat T.;
Ramanculov, Yerlan M.

Publication type:

Article

Laminin α2-Mediated Focal Adhesion Kinase Activation Triggers Alport Glomerular Pathogenesis.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099083

By:

Delimont, Duane;
Dufek, Brianna M.;
Meehan, Daniel T.;
Zallocchi, Marisa;
Gratton, Michael Anne;
Phillips, Grady;
Cosgrove, Dominic

Publication type:

Article

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076360

By:

Chatterjee, Rajshekhar;
Hoffman, Mary;
Cliften, Paul;
Seshan, Surya;
Liapis, Helen;
Jain, Sanjay

Publication type:

Article

Mild Electrical Stimulation and Heat Shock Ameliorates Progressive Proteinuria and Renal Inflammation in Mouse Model of Alport Syndrome.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043852

By:

Koga, Tomoaki;
Kai, Yukari;
Fukuda, Ryosuke;
Morino-Koga, Saori;
Suico, Mary Ann;
Koyama, Kosuke;
Sato, Takashi;
Shuto, Tsuyoshi;
Kai, Hirofumi;
dryer, Stuart E.

Publication type:

Article

Rosen mobilization of the stapes: does it have a place in modern otology?

Published in:

Journal of Laryngology & Otology, 2006, v. 120, n. 12, p. 1067, doi. 10.1017/S0022215106002490

By:

G Thiel;
R Mills

Publication type:

Article

Cochlear implantation in a patient with deafness induced by Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies).

Published in:

Journal of Laryngology & Otology, 2006, v. 120, n. 6, p. 508, doi. 10.1017/S0022215106000727

By:

J T F Postelmans;
R J Stokroos

Publication type:

Article

Ventricular septal defect in a child with Alport syndrome: a case report.

Published in:

BMC Cardiovascular Disorders, 2010, v. 10, p. 48, doi. 10.1186/1471-2261-10-48

By:

Bassareo, Pier Paolo;
Marras, Andrea Raffaele;
Mercuro, Giuseppe

Publication type:

Article

Immunohistochemical diagnosis of Alport's syndrome in paraffin-embedded renal sections: antigen retrieval with autoclave heating.

Published in:

Medical Electron Microscopy, 2003, v. 36, n. 1, p. 1, doi. 10.1007/s007950300000

By:

Naito, I.;
Ninomiya, Yoshifumi;
Nomura, S.

Publication type:

Article

Alport syndrome with phenotypic marfanoid habitus: atypical case series.

Published in:

Eye (0950-222X), 2015, v. 29, n. 3, p. 443, doi. 10.1038/eye.2014.289

By:

Agrawal, N;
Nayak, D P;
Gupta, P;
Haripriya, A;
Bhuwania, P

Publication type:

Article

Surgical management of anterior lenticonus in Alport’s syndrome.

Published in:

Eye (0950-222X), 2002, v. 16, n. 6, p. 798, doi. 10.1038/sj.eye.6700218

By:

Mavrikakis, I;
Zeilmaker, C;
Wearne, M J

Publication type:

Article

Heterotopic pregnancy is not rare. A case report and literature review.

Published in:

Journal of Obstetrics & Gynaecology, 2005, v. 25, n. 2, p. 204, doi. 10.1080/01443610500051965

By:

Rabbani, I.;
Polson, D. W.

Publication type:

Article

Deafness As Reflected in Self-Figure Drawings of Deaf People.

Published in:

Journal of Developmental & Physical Disabilities, 2005, v. 17, n. 2, p. 203, doi. 10.1007/s10882-005-3689-0

By:

Lev-Wiesel, Rachel;
Yosipov-Kaziav, Jana

Publication type:

Article

Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 12, p. 722, doi. 10.1007/s100380170007

By:

Kunishima, S.;
Matsushita, T.;
Kojima, T.;
Amemiya, N.;
Choi, Y. M.;
Hosaka, N.;
Inoue, M.;
Jung, Y.;
Mamiya, S.;
Matsumoto, K.;
Miyajima, Y.;
Zhang, G.;
Ruan, C.;
Saito, K.;
Song, K. S.;
Yoon, H.-J.;
Kamiya, T.;
Saito, H.

Publication type:

Article

Giant Macular Hole in Alport Syndrome.

Published in:

Ophthalmic Genetics, 2010, v. 31, n. 2, p. 94, doi. 10.3109/13816811003767128

By:

Shah, Sandeep N.;
Weinberg, David V.

Publication type:

Article

Renal Diseases Associated with Hematuria in Children and Adolescents: A Brief Tutorial.

Published in:

Ultrastructural Pathology, 2012, v. 36, n. 1, p. 1, doi. 10.3109/01913123.2011.620731

By:

Hicks, John;
Mierau, Gary;
Wartchow, Eric;
Eldin, Karen

Publication type:

Article

Trypsin Digestion on Paraffin Sections Is a Useful Tool for Diagnosis of Alport Syndrome.

Published in:

Ultrastructural Pathology, 2010, v. 34, n. 4, p. 199, doi. 10.3109/01913121003725739

By:

Jiang, Ying Song;
Ehara, Takashi

Publication type:

Article

Alport Disease: A Review of the Diagnostic Difficulties.

Published in:

Ultrastructural Pathology, 2001, v. 25, n. 3, p. 193, doi. 10.1080/01913120119552

By:

Meleg-Smith, Suzannne

Publication type:

Article

Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome.

Published in:

2017

By:

BAMOTRA, RAVI KANT;
MEENAKSHI;
KESARWANI, PREM CHANDRA;
QAYUM, SHAZIA

Publication type:

Case Study

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 5, p. 517, doi. 10.1111/cge.13077

By:

Papazachariou, L.;
Papagregoriou, G.;
Hadjipanagi, D.;
Demosthenous, P.;
Voskarides, K.;
Koutsofti, C.;
Stylianou, K.;
Ioannou, P.;
Xydakis, D.;
Tzanakis, I.;
Papadaki, A.;
Kallivretakis, N.;
Nikolakakis, N.;
Perysinaki, G.;
Gale, D.P.;
Diamantopoulos, A.;
Goudas, P.;
Goumenos, D.;
Soloukides, A.;
Boletis, I.

Publication type:

Article

Alport syndrome: impact of digenic inheritance in patients management.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 34, doi. 10.1111/cge.12919

By:

Fallerini, C.;
Baldassarri, M.;
Trevisson, E.;
Morbidoni, V.;
La Manna, A.;
Lazzarin, R.;
Pasini, A.;
Barbano, G.;
Pinciaroli, A.R.;
Garosi, G.;
Frullanti, E.;
Pinto, A.M.;
Mencarelli, M.A.;
Mari, F.;
Renieri, A.;
Ariani, F.

Publication type:

Article

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 252, doi. 10.1111/cge.12258

By:

Fallerini, C.;
Dosa, L.;
Tita, R.;
Del Prete, D.;
Feriozzi, S.;
Gai, G.;
Clementi, M.;
La Manna, A.;
Miglietti, N.;
Mancini, R.;
Mandrile, G.;
Ghiggeri, G.M.;
Piaggio, G.;
Brancati, F.;
Diano, L.;
Frate, E.;
Pinciaroli, A.R.;
Giani, M.;
Castorina, P.;
Bresin, E.

Publication type:

Article

Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.

Published in:

Clinical Genetics, 2012, v. 82, n. 3, p. 297, doi. 10.1111/j.1399-0004.2012.01849.x

By:

Tsiakkis, D;
Pieri, M;
Koupepidou, P;
Demosthenous, P;
Panayidou, K;
Deltas, C

Publication type:

Article

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Published in:

Clinical Genetics, 2008, v. 74, n. 6, p. 522, doi. 10.1111/j.1399-0004.2008.01051.x

By:

Hertz, J. M.;
Juncker, I.;
Marcussen, N.

Publication type:

Article

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.

Published in:

Journal of Genetics, 2017, v. 96, n. 2, p. 389, doi. 10.1007/s12041-017-0786-7

By:

Guo, Liwei;
Li, Duan;
Dong, Shuangshuang;
Wang, Donghao;
Yang, Baosheng;
Huang, Yanmei

Publication type:

Article

Effects of mycophenolate mofetil on kidney function and phosphorylation status of renal proteins in Alport COL4A3-deficient mice.

Published in:

Proteome Science, 2014, v. 12, n. 1, p. 1, doi. 10.1186/s12953-014-0056-z

By:

Petrova, Darinka Todorova;
Schultze, Frank Christian;
Brandhorst, Gunnar;
Luchs, Klaus-Dieter;
Lenz, Christof;
Urlaub, Henning;
Rubel, Diana;
Gross, Oliver;
Walson, Philip D.;
Oellerich, Michael

Publication type:

Article

Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.

Published in:

2010

By:

Tanaka, Mari;
Asada, Misako;
Higashi, Atsuko Y.;
Nakamura, Jin;
Oguchi, Akiko;
Tomita, Mayumi;
Yamada, Sachiko;
Asada, Nariaki;
Takase, Masayuki;
Okuda, Tomohiko;
Kawachi, Hiroshi;
Economides, Aris N.;
Robertson, Elizabeth;
Takahashi, Satoru;
Sakurai, Takeshi;
Goldschmeding, Roel;
Muso, Eri;
Fukatsu, Atsushi;
Kita, Toru;
Yanagita, Motoko

Publication type:

journal article

Pattern electroretinograms for the detection of neural loss in patients with permanent temporal visual field defect from chiasmal compression.

Published in:

Documenta Ophthalmologica, 2008, v. 117, n. 3, p. 223, doi. 10.1007/s10633-008-9126-9

By:

Leonardo Cunha;
Maria Oyamada

Publication type:

Article

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.

Published in:

Virchows Archiv: European Journal of Pathology, 2008, v. 453, n. 4, p. 329

By:

Elísio Carvalho;
Manuela Bustorff;
Mariana Ganhão;
Sandra Relvas;
Rosete Nogueira

Publication type:

Article

Pregnancy outcomes in patients with Alport syndrome.

Published in:

2016

By:

Yefet, Enav;
Tovbin, David;
Nachum, Zohar

Publication type:

journal article

Good obstetric outcome of consecutive pregnancies in a woman with Alport syndrome.

Published in:

2012

By:

Matsubara, Shigeki;
Muto, Shigeaki

Publication type:

Letter

Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome.

Published in:

Nephrology Dialysis Transplantation, 2003, v. 18, n. 6, p. 1122, doi. 10.1093/ndt/gfg157

By:

O. Gross;
K-O. Netzer;
R. Lambrecht;
S. Seibold;
M. Weber

Publication type:

Article

Review of the literature on Alport syndrome: A rare cause of nephrotic syndrome.

Published in:

Annals of Medical of Research, 2021, v. 28, n. 9, p. 1791, doi. 10.5455/annalsmedres.2020.08.859

By:

Tecellioglu, Fahriye Secil;
Akpolat, Nusret;
Tabel, Yilmaz;
Gul, Mehmet

Publication type:

Article

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.

Published in:

Human Genetics, 2002, v. 111, n. 6, p. 548, doi. 10.1007/s00439-002-0830-3

By:

King, Kathy;
Flinter, Frances A.;
Nihalani, Vandana;
Green, Peter M.

Publication type:

Article

Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease.

Published in:

Renal Failure, 2017, v. 39, n. 1, p. 290, doi. 10.1080/0886022X.2016.1262266

By:

Kelly, Yvelynne P.;
Patil, Anish;
Wallis, Luke;
Murray, Susan;
Kant, Saumitra;
Kaballo, Mohammed A.;
Casserly, Liam;
Doyle, Brendan;
Dorman, Anthony;
O'Kelly, Patrick;
Conlon, Peter J.

Publication type:

Article

ALPORT SYNDROME: ABNORMALITIES OF TYPE IV COLLAGEN GENES AND PROTEINS.

Published in:

Renal Failure, 2000, v. 22, n. 6, p. 737, doi. 10.1081/JDI-100101959

By:

Kashtan, Clifford E.

Publication type:

Article

RENAL PATHOLOGY AND ULTRASTRUCTURAL FINDINGS IN ALPORT'S SYNDROME.

Published in:

Renal Failure, 2000, v. 22, n. 6, p. 751, doi. 10.1081/JDI-100101960

By:

Noël, Laure-Hélène

Publication type:

Article