Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 122

1.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R.

Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095.

2.

The 2014International Workshop on Alport Syndrome.

Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Prunotto M, Renault D, Skelding J, Turner AN, Gear S.

Kidney Int. 2014 Oct;86(4):679-84. doi: 10.1038/ki.2014.229. Epub 2014 Jul 2.

3.

The importance of clinician, patient and researcher collaborations in Alport syndrome.

Rheault MN, Savige J, Randles MJ, Weinstock A, Stepney M, Turner AN, Parziale G, Gross O, Flinter FA, Miner JH, Lagas S, Gear S, Lennon R.

Pediatr Nephrol. 2019 May 1. doi: 10.1007/s00467-019-04241-7. [Epub ahead of print] Review.

PMID:
31044288
4.

[Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].

Heidet L, Gubler MC.

Nephrol Ther. 2016 Dec;12(7):544-551. doi: 10.1016/j.nephro.2016.09.001. Epub 2016 Nov 2. French.

PMID:
27816395
5.

Upregulated expression of integrin α1 in mesangial cells and integrin α3 and vimentin in podocytes of Col4a3-null (Alport) mice.

Steenhard BM, Vanacore R, Friedman D, Zelenchuk A, Stroganova L, Isom K, St John PL, Hudson BG, Abrahamson DR.

PLoS One. 2012;7(12):e50745. doi: 10.1371/journal.pone.0050745. Epub 2012 Dec 7.

6.

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K.

Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-9. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8.

7.

Ocular features in Alport syndrome: pathogenesis and clinical significance.

Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D.

Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Review.

8.

Renal, auricular, and ocular outcomes of Alport syndrome and their current management.

Zhang Y, Ding J.

Pediatr Nephrol. 2018 Aug;33(8):1309-1316. doi: 10.1007/s00467-017-3784-3. Epub 2017 Sep 1.

PMID:
28864840
9.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
10.

A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers.

Korstanje R, Caputo CR, Doty RA, Cook SA, Bronson RT, Davisson MT, Miner JH.

Kidney Int. 2014 Jun;85(6):1461-8. doi: 10.1038/ki.2013.493. Epub 2014 Feb 12.

11.

Familial hematuria: A review.

Plevová P, Gut J, Janda J.

Medicina (Kaunas). 2017;53(1):1-10. doi: 10.1016/j.medici.2017.01.002. Epub 2017 Jan 31. Review.

12.

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.

PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016.

13.

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.

J Am Soc Nephrol. 2013 Dec;24(12):1945-54. doi: 10.1681/ASN.2012100985. Epub 2013 Sep 19.

14.

A new mutation in the COL4A3 gene responsible for autosomal dominant Alport syndrome, which only generates hearing loss in some carriers.

Rosado C, Bueno E, Fraile P, García-Cosmes P, González-Sarmiento R.

Eur J Med Genet. 2015 Jan;58(1):35-8. doi: 10.1016/j.ejmg.2014.10.003. Epub 2014 Oct 28.

PMID:
25450602
15.

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M.

Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):427-32. doi: 10.1016/j.ijporl.2013.12.008. Epub 2013 Dec 18.

PMID:
24398087
16.

Alport syndrome--insights from basic and clinical research.

Kruegel J, Rubel D, Gross O.

Nat Rev Nephrol. 2013 Mar;9(3):170-8. doi: 10.1038/nrneph.2012.259. Epub 2012 Nov 20. Review.

PMID:
23165304
17.

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.

Kidney Int. 2004 May;65(5):1598-603.

18.

Atypical Alport syndrome associated with a novel COL4A5 mutation.

Höpker K, Liebau MC, Friederichsohn C, Waldherr R, Benzing T.

Clin Nephrol. 2009 Mar;71(3):321-5. Erratum in: Clin Nephrol. 2010 Feb;73(2):172.

PMID:
19281745
19.

Feasibility of repairing glomerular basement membrane defects in Alport syndrome.

Lin X, Suh JH, Go G, Miner JH.

J Am Soc Nephrol. 2014 Apr;25(4):687-92. doi: 10.1681/ASN.2013070798. Epub 2013 Nov 21.

20.

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.

Daga S, Baldassarri M, Lo Rizzo C, Fallerini C, Imperatore V, Longo I, Frullanti E, Landucci E, Massella L, Pecoraro C, Garosi G, Ariani F, Mencarelli MA, Mari F, Renieri A, Pinto AM.

Hum Mutat. 2018 Feb;39(2):302-314. doi: 10.1002/humu.23364. Epub 2017 Nov 22.

PMID:
29098738

Supplemental Content

Support Center