Results 151 to 160 of about 2,525,206 (182)

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

Human Genetics, 1993
Small frameshift deletions within the COL4A5 gene were identified in three Alport syndrome Italian families by non-isotopic single-strand conformation polymorphism (SSCP) screening: in family RMA, a 7-bp deletion (GGGTGAA) in exon 39; in family DGR, a 4-bp deletion (TGGA) in exon 41; in family MIB, deletion of a G in exon 50.
RENIERI A., SERI M., GALLI L., COSCI P., IMBASCIATI E., MASSELLA L., RIZZONI G., RESTAGNO G., CARBONARA AO., STRAMIGNONI E., BASOLO B., PICCOLI G., DE MARCHI M.   +12 more
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Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene

Human Genetics, 2005
The X-linked form of Alport syndrome (AS) is caused by mutation in the COL4A5 gene located at Xq22.3 and encoding the alpha 5-chain of type IV-collagen. More than 400 different mutations have so far been detected in the COL4A5 gene.
Mårten Segelmark, Jens M Hertz
exaly   +2 more sources

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

Clinical Genetics, 1995
We have identified a novel missense transition (362G→A) in exon 3 of the COL4A5 gene in a male patient with late‐onset Alport syndrome. We used non‐isotopic single strand conformation polymorphism, heteroduplex analysis, and automated DNA sequencing. The
Alessandra Renieri, Alberto Turco, Mario De Marchi   +2 more
exaly   +3 more sources

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Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Science, 1990
X-linked Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by progressive loss of hearing. Ultrastructural defects in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered structural protein as the cause of nephritis.
D F, Barker, S L, Hostikka, J, Zhou, L T, Chow, A R, Oliphant, S C, Gerken, M C, Gregory, M H, Skolnick, C L, Atkin, K, Tryggvason   +9 more
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Aberrant splicing of the COL4A5 gene in patients with Alport syndrome

Human Molecular Genetics, 1994
A variety of mutations have been identified in the X-linked type IV collagen alpha 5 chain (COL4A5) gene in patients with Alport syndrome. A substantial number of these mutations were predicted to have an effect on RNA splicing. For 4 such mutations in our group of patients the effect of the DNA mutation on the COL4A5 mRNA structure and stability was ...
H H, Lemmink, L A, Kluijtmans, H G, Brunner, C H, Schröder, B, Knebelmann, E, Jelínková, B A, van Oost, L A, Monnens, H J, Smeets   +8 more
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Two novel alternatively spliced 9-bp exons in the COL4A5 gene

Pediatric Nephrology, 2001
The existence of an alternatively used 18-bp sequence has been described in type IV collagen alpha 5 chain mRNA from human kidney (Guo et al., Kidney Int 44, 1993). In this study we have shown that this sequence is encoded by two exons, termed 41A and 41B, that are located in a 9-kb intron 41 that was sequenced in its entirety.
P H, Martin, K, Tryggvason
openaire   +2 more sources

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

Clinical Genetics, 2008
Udgivelsesdato: 2008-Jun-26The X-linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the alpha5 chain of type IV collagen.
Jens M Hertz, N Marcussen
exaly   +2 more sources

Detection of mutations in theCOL4A5gene by SSCP in X-linked Alport syndrome

Human Mutation, 2001
Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the alpha5-chain of type IV-collagen.
Hertz, J.M., Juncker, I., Persson, U., Matthijs, G., Schmidtke, J., Petersen, M.B., Kjeldsen, M., Gregersen, N.   +7 more
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Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients

Pediatric Nephrology, 2008
Alport syndrome is the most common form of hereditary nephritis, and the majority of cases are caused by mutations in the COL4A5 gene. However, direct sequencing by polymerase chain reaction (PCR), from genomic DNA, or reverse transcriptase-polymerase chain reaction (RT-PCR), from mRNA, or polymerase chain reaction-single-strand conformation ...
Kandai, Nozu, Rafal, Przybyslaw Krol, Yasufumi, Ohtsuka, Koichi, Nakanishi, Norishige, Yoshikawa, Yoshimi, Nozu, Hiroshi, Kaito, Kyoko, Kanda, Yuya, Hashimura, Yuhei, Hamasaki, Kazumoto, Iijima, Masafumi, Matsuo   +11 more
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[Thin basement membrane nephropathy: a mutation in COL4A5 gene].

Zhonghua nei ke za zhi, 2003
To investigate the mutations in COL4A5 in 3 X-linked thin basement membrane nephropathy families.PCR-SSCP analysis were used for 51 exons of COL4A5 gene. If bands shift were found, then automated sequencing was performed after cloning in pGEM-T easy vectors.In one of the three families a glycine to alanine substitution was identified in the collagenous
Y, Chen, S, Zhu, Y, Zhang
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