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About 1,442 results

ALLMedicine™ Alport Syndrome Center

Research & Reviews  717 results

Consensus statement on standards and guidelines for the molecular diagnostics of Alport...
https://doi.org/10.1038/s41431-021-00858-1 10.1111/j.1651-2227.1996.tb13915.x 10.1056/NEJMoa1806891 10.1093/ndt/gfz028 10.1136/jmedgenet-2014-102822 10.1046/j.1523-1755.2003.00234.x 10.1016/0002-9343(81)90571-4 10.1681/ASN.2012020148 10.2215/CJN.00580116 10.1007/s00467-018-3985-4 10.1093/ndt/gfv325 10.1038/ki.2014.305 10.2215/CJN.08750718 10.1016/j.ekir.2020.04.011 10.1093/ckj/sfu033 10.1016/j.ekir.2019.09.004 10.1093/ndt/gfp158 10.1371/journal.pone.0161802 10.1681/ASN.2009070784 10.1038/ki.2014.48 10.3389/fped.2018.00200 10.1681/ASN.2013080912 10.1097/MOP.0000000000000117 10.1038/gim.2015.30 10.1186/s13073-016-0391-z 10.1093/bioinformatics/bty897 10.1002/humu.23645 10.1038/gim.2016.190 10.1172/JCI117073 10.1172/JCI119431 10.1038/gim.2018.42 10.1038/gim.2018.43 10.1159/000424811 10.1038/ki.1995.163 10.1016/j.ekir.2020.01.008 10.1681/ASN.2018030228 10.1016/j.bbrc.2004.02.168 10.1016/j.biomaterials.2020.119857 10.1016/S0021-9258(19)74270-7 10.1111/j.1365-2249.2011.04356.x 10.1016/S0021-9258(18)42301-0 10.1126/science.1176811 10.1074/jbc.273.15.8767 10.1073/pnas.070050097 10.1021/bi970051h 10.1111/j.1399-0004.2011.01647.x 10.1002/humu.21401 10.3389/fped.2019.00485 10.1007/s00467-012-2138-4 10.1038/s41431-019-0523-1 10.1016/S0021-9258(17)31612-5 10.1016/S0021-9258(18)47174-8
European Journal of Human Genetics : EJHG; Savige J, Storey H et. al.

Apr 15th, 2021 - The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family his...

Could This Be Alport Syndrome?
https://doi.org/10.2215/CJN.00120121
Clinical Journal of the American Society of Nephrology : ... Lennon R, Fornoni A

Apr 14th, 2021 - Could This Be Alport Syndrome?|2021|Lennon R,Fornoni A,|

Genetic Basis of Type IV Collagen Disorders of the Kidney.
https://doi.org/10.2215/CJN.19171220
Clinical Journal of the American Society of Nephrology : ... Quinlan C, Rheault MN

Apr 14th, 2021 - The glomerular basement membrane is a vital component of the filtration barrier of the kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific isoforms of type IV collagen, the α3(IV), α4(IV), and α5(IV) isofor...

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series.
https://doi.org/10.1053/j.ajkd.2021.02.326
American Journal of Kidney Diseases : the Official Journa... Furlano M, Martínez V et. al.

Apr 10th, 2021 - Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The aim of this study was to eva...

Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bar...
https://doi.org/10.1159/000513777
American Journal of Nephrology; Chertow GM, Appel GB et. al.

Mar 31st, 2021 - Alport syndrome is a rare genetic disorder that affects as many as 60,000 persons in the USA and a total of 103,000 persons (<5 per 10,000) in the European Union [1, 2]. It is the second most common inherited cause of kidney failure and is charact...

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Guidelines  1 results

Clinical practice recommendations for the treatment of Alport syndrome: a statement of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505543
Pediatric Nephrology (Berlin, Germany); Kashtan CE, Ding J et. al.

Mar 30th, 2012 - We present clinical practice recommendations for the treatment of children with Alport syndrome who are not enrolled in clinical trials. Our goal is to promote early initiation of a standard therapeutic approach that will facilitate assessment of ...

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Clinicaltrials.gov  719 results

Consensus statement on standards and guidelines for the molecular diagnostics of Alport...
https://doi.org/10.1038/s41431-021-00858-1 10.1111/j.1651-2227.1996.tb13915.x 10.1056/NEJMoa1806891 10.1093/ndt/gfz028 10.1136/jmedgenet-2014-102822 10.1046/j.1523-1755.2003.00234.x 10.1016/0002-9343(81)90571-4 10.1681/ASN.2012020148 10.2215/CJN.00580116 10.1007/s00467-018-3985-4 10.1093/ndt/gfv325 10.1038/ki.2014.305 10.2215/CJN.08750718 10.1016/j.ekir.2020.04.011 10.1093/ckj/sfu033 10.1016/j.ekir.2019.09.004 10.1093/ndt/gfp158 10.1371/journal.pone.0161802 10.1681/ASN.2009070784 10.1038/ki.2014.48 10.3389/fped.2018.00200 10.1681/ASN.2013080912 10.1097/MOP.0000000000000117 10.1038/gim.2015.30 10.1186/s13073-016-0391-z 10.1093/bioinformatics/bty897 10.1002/humu.23645 10.1038/gim.2016.190 10.1172/JCI117073 10.1172/JCI119431 10.1038/gim.2018.42 10.1038/gim.2018.43 10.1159/000424811 10.1038/ki.1995.163 10.1016/j.ekir.2020.01.008 10.1681/ASN.2018030228 10.1016/j.bbrc.2004.02.168 10.1016/j.biomaterials.2020.119857 10.1016/S0021-9258(19)74270-7 10.1111/j.1365-2249.2011.04356.x 10.1016/S0021-9258(18)42301-0 10.1126/science.1176811 10.1074/jbc.273.15.8767 10.1073/pnas.070050097 10.1021/bi970051h 10.1111/j.1399-0004.2011.01647.x 10.1002/humu.21401 10.3389/fped.2019.00485 10.1007/s00467-012-2138-4 10.1038/s41431-019-0523-1 10.1016/S0021-9258(17)31612-5 10.1016/S0021-9258(18)47174-8
European Journal of Human Genetics : EJHG; Savige J, Storey H et. al.

Apr 15th, 2021 - The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family his...

Could This Be Alport Syndrome?
https://doi.org/10.2215/CJN.00120121
Clinical Journal of the American Society of Nephrology : ... Lennon R, Fornoni A

Apr 14th, 2021 - Could This Be Alport Syndrome?|2021|Lennon R,Fornoni A,|

Genetic Basis of Type IV Collagen Disorders of the Kidney.
https://doi.org/10.2215/CJN.19171220
Clinical Journal of the American Society of Nephrology : ... Quinlan C, Rheault MN

Apr 14th, 2021 - The glomerular basement membrane is a vital component of the filtration barrier of the kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific isoforms of type IV collagen, the α3(IV), α4(IV), and α5(IV) isofor...

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series.
https://doi.org/10.1053/j.ajkd.2021.02.326
American Journal of Kidney Diseases : the Official Journa... Furlano M, Martínez V et. al.

Apr 10th, 2021 - Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 or COL4A5 genes. The aim of this study was to eva...

Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bar...
https://doi.org/10.1159/000513777
American Journal of Nephrology; Chertow GM, Appel GB et. al.

Mar 31st, 2021 - Alport syndrome is a rare genetic disorder that affects as many as 60,000 persons in the USA and a total of 103,000 persons (<5 per 10,000) in the European Union [1, 2]. It is the second most common inherited cause of kidney failure and is charact...

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News  5 results

Alport Syndrome Research Funding Is Awarded
https://www.mdedge.com/pediatrics/article/148143/rare-diseases/alport-syndrome-research-funding-awarded

Sep 27th, 2017 - Researchers at the University of Miami in Florida and University of Cyprus have each been awarded $100,000 to explore two drug repurposing projects to identify possible treatments for Alport syndrome. The funding was provided by the Alport Syndrom.

Marijuana and Transplants: A Catch-22 (CNN)
https://www.medpagetoday.com/transplantation/transplantation/64660

Apr 19th, 2017 - Use of medical marijuana may disqualify candidates for organ transplant, as a Maine man learned the hard way, according to CNN. Awaiting a kidney transplant in 2010, Garry Godfrey learned he had been dropped from the wait list because of his presc...

Alport Syndrome Foundation Announces Research Funding
https://www.mdedge.com/clinicianreviews/article/131705/rare-diseases/alport-syndrome-foundation-announces-research-funding

Feb 17th, 2017 - The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated.

Foundations Award Funding for Study of Alport Syndrome
https://www.mdedge.com/familymedicine/article/101707/foundations-award-funding-study-alport-syndrome
Cardiology News;

Aug 5th, 2015 - The Alport Syndrome Foundation (ASF), Pedersen Family Foundation, and Kidney Foundation of Canada have awarded two research grants for the study of Alport syndrome, a rare genetic kidney disease. The recipients are James Scholey, MD, of the Univer.

Research supports treatment for Alport syndrome
https://www.mdedge.com/pediatrics/article/98611/rare-diseases/research-supports-treatment-alport-syndrome

Apr 8th, 2015 - Until recently, most physicians thought of Alport syndrome as an untreatable disease. However, experiments carried out in mice with Alport syndrome showed that several different kinds of medication could slow loss of kidney function.

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