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Items: 1 to 20 of 100

1.

A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family.

Xia L, Cao Y, Guo Y, Ba G, Luo Q, Shi H, Feng Y, Yin S.

Dis Markers. 2019 Feb 10;2019:8705989. doi: 10.1155/2019/8705989. eCollection 2019.

2.

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

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 DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C.

Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.

PMID:
28632965
3.

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

Cervera-Acedo C, Coloma A, Huarte-Loza E, Sierra-Carpio M, Domínguez-Garrido E.

BMC Nephrol. 2017 Oct 31;18(1):325. doi: 10.1186/s12882-017-0735-y.

4.

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP.

Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10.

PMID:
25307543
5.

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.

Imafuku A, Nozu K, Sawa N, Hasegawa E, Hiramatsu R, Kawada M, Hoshino J, Tanaka K, Ishii Y, Takaichi K, Fujii T, Ohashi K, Iijima K, Ubara Y.

Nephrology (Carlton). 2018 Oct;23(10):940-947. doi: 10.1111/nep.13115.

PMID:
28704582
6.

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
7.

A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.

Hou P, Chen Y, Ding J, Li G, Zhang H.

Am J Nephrol. 2007;27(5):538-44. Epub 2007 Aug 24.

PMID:
17726307
8.

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C.

J Am Soc Nephrol. 2001 Jan;12(1):97-106.

9.

Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

Tazón Vega B, Badenas C, Ars E, Lens X, Milà M, Darnell A, Torra R.

Am J Kidney Dis. 2003 Nov;42(5):952-9.

PMID:
14582039
10.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
11.

Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.

Zhang Y, Wang F, Ding J, Zhang H, Zhao D, Yu L, Xiao H, Yao Y, Zhong X, Wang S.

Am J Med Genet A. 2012 Sep;158A(9):2188-93. doi: 10.1002/ajmg.a.35528. Epub 2012 Aug 6.

PMID:
22887978
12.

Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy.

Beirowski B, Weber M, Gross O.

J Am Soc Nephrol. 2006 Jul;17(7):1986-94. Epub 2006 Jun 14.

13.

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C.

PLoS One. 2014 Dec 16;9(12):e115015. doi: 10.1371/journal.pone.0115015. eCollection 2014.

14.

Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.

Choi M, Anistan YM, Eckardt KU, Gollasch M, Nickel P.

Nephron. 2019;141(3):213-218. doi: 10.1159/000495764. Epub 2019 Jan 18.

PMID:
30661074
15.

Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.

Hoefele J, Lange-Sperandio B, Ruessmann D, Glöckner-Pagel J, Alberer M, Benz MR, Nagel M, Weber LT.

Pediatr Nephrol. 2010 Aug;25(8):1539-42. doi: 10.1007/s00467-010-1467-4. Epub 2010 Feb 23.

PMID:
20177710
16.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M.

Kidney Int. 2002 Jun;61(6):1947-56.

17.

Thin basement membrane nephropathy.

Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY.

Kidney Int. 2003 Oct;64(4):1169-78. Review.

18.
19.

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.

20.

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