ASAP DNA-Encoded Library-Derived DDR1 Inhibitor Prevents Fibrosis and Renal Function Loss in a Genetic Mouse Model of Alport Syndrome

ACS Chemical BiologyDOI: 10.1021/acschembio.8b00866
Source: ACS Chemical Biology - Category: Chemistry Authors: Source Type: research

Related Links:

Bhavik Panchal, Shreyansh Doshi, Avinash PathengayIndian Journal of Ophthalmology 2019 67(10):1731-1731
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
CONCLUSION: By conducting exome sequencing and Sanger sequencing, a COL4A5 gene missense mutation, c.2156G>A (p.G719E) was identified to co-segregate with the renal disorders in this family. Our study extends the genotype-phenotype correlation in XLAS, which may be useful for genetic-counseling of this family. Further functional studies associated with genetic deficiency are warranted in the following research. PMID: 31490752 [PubMed - as supplied by publisher]
Source: Current Molecular Medicine - Category: Molecular Biology Authors: Tags: Curr Mol Med Source Type: research
Kidney transplantation is the treatment of choice in end-stage renal disease due to Alport syndrome (AS). However, the chances of finding an adequate living-related donor in AS are much worse compared to non-h...
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research
Rationale: To report the visual status and results of phacoemulsification cataract surgery in a young patient with Alport syndrome associated with bilateral anterior lenticonus. The milestone of this report is the use of anterior segment optical coherence tomography (AS-OCT) to confirm the central protrusion of the anterior surface of the crystalline lens. Patient concerns: A 23-year-old young woman presented with severe progressive visual loss in both eyes, which started several years ago. Diagnoses: Refractive status was indicative of high myopia with astigmatism and vision was not improved with optimal correctio...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Publication date: Available online 24 August 2019Source: Trends in Pharmacological SciencesAuthor(s): Kohei Omachi, Jeffrey H. MinerAlport syndrome (AS), a rare disease of basement membrane type IV collagen, impacts the kidneys, ears, and eyes. In severe cases, kidney failure occurs during adolescence or early adulthood, so most research has focused on remedies for kidney dysfunction. Planned and ongoing clinical studies using targets and therapeutic approaches discussed herein provide new hope for AS patients. The outcomes of these trials could suggest new treatments for more common forms of chronic kidney disease (CKD), ...
Source: Trends in Pharmacological Sciences - Category: Drugs & Pharmacology Source Type: research
In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next ‐generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing forCOL4A3/COL4A4/COL4A5 (n = 294, Sanger group).ResultsIn the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes,NPHS1 andEYA1. Further, 239 patients (81%) were diagnosed with AS by initial analysis in the Sanger group. Thirteen patients who were negative for mutation detection in the S...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Alport syndrome is a rare genetic kidney disease, and rheumatoid arthritis as a common autoimmune disease also causes renal lesions in addition to arthritis. The overlap of them has rarely been reported.
Source: BMC Nephrology - Category: Urology & Nephrology Authors: Tags: Case report Source Type: research
In this report, we refer the clinical and molecular data of 38 Italian SHL unrelated patients, and their relatives, affected by the most common syndromes associated with HL (i.e., Usher, Pendred, Charge, Waardenburg, Alport, Stickler, Branchiootorenal and Microdeletions syndromes). Patients have been analysed using next-generation sequencing (NGS) and High Density (HD)-SNP array technologies. Data analysis led to the identification of nine novel and 27 known causative mutations in 12 genes and two microdeletions in chromosomes 1 and 10, respectively. In particular, as regards to Usher syndrome, that affects 32% of our pati...
Source: Hearing Research - Category: Audiology Authors: Tags: Hear Res Source Type: research
Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation (accounts for less than 5 percent of AS cases) and is widely believed to be a consequence of heterozygous variants in the COL4A3 and COL4A4 genes. Until now, there have been no reports of homozygous variants in genes in AS patients, and it is scarce to detect both homozygous and heterozygous variants in a single Alport syndrome pedigree. We performed genetic analysis by exome sequencing (exome-seq) in a Chinese family with AS and found four individua...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We report a 30-year-old male who presented with proteinuria and elevated serum creatinine and for whom the initial pathologic diagnosis supported Alport syndrome. Diagnoses: A diagnosis of Fabry disease with immunoglobulin A nephropathy (IgAN) was finally made after further examination. Interventions: After the initial diagnosis the patient was treated with herbal medications and mecobalamin. Outcomes: The patient was discharged 1 week later. He was maintained on these treatments and received regular follow-up in our hospital. Lessons subsections as per style: FD coexisting with IgAN is rare and may have nons...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
More News: Alport Syndrome | Biology | Chemistry | Databases & Libraries | Genetics