Results 141 to 150 of about 2,525,206 (182)

Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis. [PDF]

Kidney Res Clin Pract
Oh J, Lee K, Won D, Lee YM, Shin JI.
europepmc   +1 more source

Autosomal Dominant Alport Syndrome. [PDF]

J Am Soc Nephrol
Savige J, Huang M.
europepmc   +1 more source

Tetrahedral DNA nanostructure-delivered suppressor tRNA ameliorates nephropathy in <i>COL4A5</i> nonsense mutation-mediated Alport syndrome mice. [PDF]

NAR Mol Med
Lv J, Li Y, Hong D, Shen Y, Mi Z, Liang Q, Zheng Z, Kong B, Gao W, Dou Z, Tian S, Xia Q.   +11 more
europepmc   +1 more source

Ovarian Collagen Regulates Granulosa Cell Proliferation Through Persistent Activation of the ERK1/2 Pathway in the Chinese Soft-Shelled Turtle (<i>Pelodiscus sinensis</i>). [PDF]

Animals (Basel)
Han X, Guo Y, Lou X, Zhang Y, Jiang S, Ge C, Xiao L.   +6 more
europepmc   +1 more source

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome

American Journal of Medical Genetics, 1995
AbstractMutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X‐linked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome.
Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, SCOLARI, Francesco, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M.   +18 more
core   +10 more sources

Alport syndrome caused by a 5′ deletion within the COL4A5 gene

Human Genetics, 1992
Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.
RENIERI A., SERI M., MYERS JC, PIHLAJANIEMI T., SESSA A., RIZZONI G., DE MARCHI, Mario   +6 more
openaire   +6 more sources

De-novo COL4A5 gene mutations in Alport's syndrome

Nephrology Dialysis Transplantation, 1994
Abstract Before the advent of direct molecular gene analysis the diagnosis of Alport syndrome was operationally based on three of the four classical clinical criteria. Recently, mutations have been identified in the COL4A5 gene, which is involved in X-linked Alport syndrome.
MASSELLA L., RIZZONI G., DE BLASIS R., BARSOTTI P., FARAGGIANA T., RENIERI A., SERI M., GALLI L., DE MARCHI, Mario   +8 more
openaire   +6 more sources

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Mutational analysis of COL4A5 gene in Korean Alport syndrome

Pediatric Nephrology, 2000
Mutational analysis of the COL4A5 gene in X-linked Alport syndrome (AS) requires an expensive and time-consuming procedure with a detection rate of 50%, at best. There have been three multicenter collaborative studies of mutation analysis in the COL4A5 gene using systematic screening of entire coding regions of the gene.
I S Ha
exaly   +3 more sources

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene

American Journal of Ophthalmology, 2000
To describe an unusual form of dot-and-fleck retinopathy in a slower progressive form of X-linked Alport syndrome, caused by a novel missense mutation in the COL4A5 gene.Ophthalmic examination, polymerase chain reaction, and single-strand conformational polymorphism analysis of genomic DNA were performed in the proband.Ophthalmoscopy revealed classic ...
BLASI M. A., RINALDI R., RENIERI A., PETRUCCI R., DE BERNARDO C., BRUTTINI M., GRAMMATICO P.   +6 more
openaire   +5 more sources