Results 11 to 20 of about 2,525,206 (182)

Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts [PDF]

Kidney International, 2005
Alport syndrome is a progressive hereditary glomerulonephritis that is characterized by hematuria, sensorineural deafness, ocular lesions, and progressive renal failure. The majority of cases (about 85%) are caused by mutations in the COL4A5 gene on the X chromosome which encodes the type IV collagen alpha5 chain (X-linked Alport syndrome).In this ...
Wang, Fang, Wang, Yunfeng, Ding, Jie, Yang, Jiyun   +3 more
exaly   +5 more sources

Deletions of the COL4A5 gene in patients with Alport syndrome [PDF]

Kidney International, 1992
Mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen have been found in linkage with X-chromosomal Alport syndrome (AS). To identify COL4A5 mutations in patients from Germany with clinically defined AS, DNA from 20 unrelated patients was analyzed by conventional Southern blotting.
Netzer, Kai-Olaf, Renders, Lutz, Zhou, Jing, Pullig, Oliver, Tryggvason, Karl, Weber, Manfred   +5 more
openaire   +3 more sources

Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain [PDF]

Kidney International, 1993
PCR conditions were optimized to amplify the COL4A5 cDNA from lymphoblasts and kidney tissue. Sequencing of the COL4A5 mRNA isolated from the kidney of an Alport syndrome patient revealed two differences with the published sequence. One divergence, the insertion of an 18 bp sequence between exon 11 and 10 of the COL4A5 mRNA added two Gly-X-Y triplets ...
Guo, Caiying, Van Damme, Boudewijn, Van Damme-Lombaerts, Rita, Van den Berghe, Herman, Cassiman, Jean-Jacques, Marynen, Peter   +5 more
openaire   +3 more sources

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis [PDF]

Journal of Human Genetics, 2017
Alport syndrome-diffuse leiomyomatosis (AS-DL, OMIM: 308940) is a rare variant of the X-linked Alport syndrome that shows overgrowth of visceral smooth muscles in the gastrointestinal, respiratory and female reproductive tracts in addition to renal symptoms.
Nozu, Kandai, Minamikawa, Shogo, Yamada, Shiro, Oka, Masafumi, Yanagita, Motoko, Morisada, Naoya, Fujinaga, Shuichiro, Nagano, China, Gotoh, Yoshimitsu, Takahashi, Eihiko, Morishita, Takahiro, Yamamura, Tomohiko, Ninchoji, Takeshi, Kaito, Hiroshi, Morioka, Ichiro, Nakanishi, Koichi, Vorechovsky, Igor, Iijima, Kazumoto   +17 more
openaire   +5 more sources

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5

Frontiers in Medicine, 2021
Alport syndrome-diffuse leiomyomatosis is a rare type of X-linked Alport syndrome resulting from contiguous deletions of 5′ exons of COL4A5 and COL4A6.
Xi Zhou, Jingjing Wang, Jianhua Mao, Qing Ye   +3 more
doaj   +3 more sources

Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene [PDF]

Kidney International, 1992
Alport syndrome (AS) is an hereditary glomerulonephritis that is mainly inherited as a dominant X-linked trait. Structural abnormalities in the type IV collagen alpha 5 chain gene (COL4A5), which maps to Xq22, have recently been detected in several patients with AS.
Antignac, Corinne, Zhou, Jing, Sanak, Marek, Cochat, Pierre, Roussel, Bernard, Deschênes, Georges, Gros, Françoise, Knebelmann, Bertrand, Hors-Cayla, Marie-Claude, Tryggvason, Karl, Gubler, Marie-Claire   +10 more
openaire   +3 more sources

Identification of a single base insertion in the COL4A5 gene in Alport syndrome [PDF]

Kidney International, 1993
We identified a novel mutation in the COL4A5 gene of a Japanese patient with Alport syndrome. A combination of in vitro amplification of the exons with single strand conformation polymorphisms (SSCP) analysis suggested the presence of a mutation in exon 48.
Nakazato, Hitoshi, Hattori, Shinzaburo, Matsuura, Toshinobu, Koitabashi, Yasushi, Endo, Fumio, Matsuda, Ichiro   +5 more
openaire   +3 more sources

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome [PDF]

Frontiers in Medicine
Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-
Xue Wang, Xue Wang, Linlin Dong, Linlin Dong, Hui Qiu, Hui Qiu, Beibei Wang, Beibei Wang, Sanfeng Wang, Sanfeng Wang, Weiran Zhou, Weiran Zhou   +11 more
doaj   +2 more sources

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics. [PDF]

Macromol Biosci
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Lee JH, Han J, Park S, Mok H.
europepmc   +2 more sources

Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells [PDF]

Kidney International, 1994
Using a combination of gene amplification with single strand conformation polymorphisms analysis and sequencing, we examined the COL4A5 gene in 37 patients with Alport syndrome. In patient A8, a single base insertion was noted at codon 1,597 tyrosine in exon 49.
Nakazato, Hitoshi, Hattori, Shinzaburo, Ushijima, Tadashi, Matsuura, Toshinobu, Koitabashi, Yasushi, Takada, Tsuneo, Yoshioka, Kazuo, Endo, Fumio, Matsuda, Ichiro   +8 more
openaire   +3 more sources