Format
Sort by
Items per page

Send to

Choose Destination

Links from Gene

Items: 1 to 20 of 94

1.

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.

Li A, Gao EZ, Cui YX, Liu JH, Lv X, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ.

Cytogenet Genome Res. 2018;154(1):30-36. doi: 10.1159/000486979. Epub 2018 Feb 15.

PMID:
29669314
2.

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

Deng S, Xu H, Yuan J, Xiao J, Yuan L, Deng X, Guan L, Zhu A, Rong P, Zhang J, Deng H.

Indian J Med Res. 2016 Aug;144(2):200-205. doi: 10.4103/0971-5916.195026.

3.

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.

Wu Y, Hu P, Xu H, Yuan J, Yuan L, Xiong W, Deng X, Deng H.

J Cell Mol Med. 2016 Dec;20(12):2328-2332. doi: 10.1111/jcmm.12924. Epub 2016 Jul 29.

4.

A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.

Xu Y, Guo M, Dong H, Jiang W, Ma R, Liu S, Li S.

Sci Rep. 2016 Feb 2;6:20244. doi: 10.1038/srep20244.

5.

A competitive enzyme-linked immunosorbent assay for quantification of tetrastatin in body fluids and tumor extracts.

Dupont-Deshorgue A, Oudart JB, Brassart B, Deslee G, Perotin JM, Diebold MD, Monboisse JC, Ramont L, Brassart-Pasco S.

Anal Biochem. 2015 Aug 1;482:16-21. doi: 10.1016/j.ab.2015.04.023. Epub 2015 Apr 29.

PMID:
25935259
6.

Evaluation of possible relationship between COL4A4 gene polymorphisms and risk of keratoconus.

Saravani R, Hasanian-Langroudi F, Validad MH, Yari D, Bahari G, Faramarzi M, Khateri M, Bahadoram S.

Cornea. 2015 Mar;34(3):318-22. doi: 10.1097/ICO.0000000000000356.

PMID:
25651396
7.

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
8.

Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.

Meguro A, Ideta H, Ota M, Ito N, Ideta R, Yonemoto J, Takeuchi M, Uemoto R, Nishide T, Iijima Y, Kawagoe T, Okada E, Shiota T, Hagihara Y, Oka A, Inoko H, Mizuki N.

PLoS One. 2012;7(6):e39300. doi: 10.1371/journal.pone.0039300. Epub 2012 Jun 19.

9.

Mutations in the COL4A4 gene in thin basement membrane disease.

Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J.

Kidney Int. 2003 Feb;63(2):447-53.

10.
11.

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C.

Am J Hum Genet. 1998 Nov;63(5):1329-40.

12.

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

Lemmink HH, Nillesen WN, Mochizuki T, Schröder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ.

J Clin Invest. 1996 Sep 1;98(5):1114-8.

13.

cDNA isolation and partial gene structure of the human alpha 4(IV) collagen chain.

Sugimoto M, Oohashi T, Yoshioka H, Matsuo N, Ninomiya Y.

FEBS Lett. 1993 Sep 13;330(2):122-8.

14.

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis.

Hudson BG, Reeders ST, Tryggvason K.

J Biol Chem. 1993 Dec 15;268(35):26033-6. Review. No abstract available.

15.

Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37.

Mariyama M, Zheng K, Yang-Feng TL, Reeders ST.

Genomics. 1992 Jul;13(3):809-13.

PMID:
1639407
16.

The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.

Li A, Cui YX, Lv X, Liu JH, Gao EZ, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ.

Cytogenet Genome Res. 2018;154(3):132-136. doi: 10.1159/000488163. Epub 2018 May 9.

PMID:
29742505
17.

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

Guo L, Li D, Dong S, Wan D, Yang B, Huang Y.

J Genet. 2017 Jun;96(2):389-392.

18.

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.

19.

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease.

Lin F, Bian F, Zou J, Wu X, Shan J, Lu W, Yao Y, Jiang G, Gale DP.

BMC Nephrol. 2014 Nov 7;15:175. doi: 10.1186/1471-2369-15-175.

20.

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

Supplemental Content

Support Center