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https://www.readbyqxmd.com/read/28176019/long-term-treatment-with-egfr-inhibitor-erlotinib-attenuates-renal-inflammatory-cytokines-but-not-nephropathy-in-alport-syndrome-mouse-model
#1
Kohei Omachi, Rui Miyakita, Ryosuke Fukuda, Yukari Kai, Mary Ann Suico, Tsubasa Yokota, Misato Kamura, Tsuyoshi Shuto, Hirofumi Kai
BACKGROUND: Alport syndrome (AS) is a hereditary kidney disease caused by mutation of type IV collagen. Loss of collagen network induces collapse of glomerular basement membrane (GBM) structure. The previous studies showed that upregulation of some tyrosine kinase receptors signaling accompanied GBM disorder in AS mouse model. EGFR signaling is one of the well-known receptor kinase signaling that is involved in glomerular diseases. However, whether EGFR signaling is relevant to AS progression is still uninvestigated...
February 8, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28072738/expression-quantitative-trait-loci-for-pi3k-akt-pathway
#2
Dongchan Ryu, Chaeyoung Lee
A genome-wide association study (GWAS) was conducted to identify expression quantitative trait loci (eQTLs) for the genes involved in phosphatidylinositol-3-kinase/v-akt murine thymoma viral oncogene homolog (PI3K/AKT) pathway.Data on mRNA expression of 341 genes in lymphoblastoid cell lines of 373 Europeans recruited by the 1000 Genomes Project using Illumina HiSeq2000 were utilized. We used their genotypes at 5,941,815 nucleotide variants obtained by Genome Analyzer II and SOLiD.The association analysis revealed 4166 nucleotide variants associated with expression of 85 genes (P < 5 × 10)...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28013382/functional-assessment-of-a-novel-col4a5-splice-region-variant-and-immunostaining-of-plucked-hair-follicles-as-an-alternative-method-of-diagnosis-in-x-linked-alport-syndrome
#3
Andrew F Malone, Steven D Funk, Tarek Alhamad, Jeffrey H Miner
BACKGROUND: Many COL4A5 splice region variants have been described in patients with X-linked Alport syndrome, but few have been confirmed by functional analysis to actually cause defective splicing. We sought to demonstrate that a novel COL4A5 splice region variant in a family with Alport syndrome is pathogenic using functional studies. We also describe an alternative method of diagnosis. METHODS: Targeted next-generation sequencing results of an individual with Alport syndrome were analyzed and the results confirmed by Sanger sequencing in family members...
December 24, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27959966/x-linked-alport-dogs-demonstrate-mesangial-filopodial-invasion-of-the-capillary-tuft-as-an-early-event-in-glomerular-damage
#4
Sabrina D Clark, Mary B Nabity, Rachel E Cianciolo, Brianna Dufek, Dominic Cosgrove
BACKGROUND: X-linked Alport syndrome (XLAS), caused by mutations in the type IV collagen COL4A5 gene, accounts for approximately 80% of human Alport syndrome. Dogs with XLAS have a similar clinical progression. Prior studies in autosomal recessive Alport mice demonstrated early mesangial cell invasion as the source of laminin 211 in the glomerular basement membrane (GBM), leading to proinflammatory signaling. The objective of this study was to verify this process in XLAS dogs. METHODS: XLAS dogs and WT littermates were monitored with serial clinicopathologic data and kidney biopsies...
2016: PloS One
https://www.readbyqxmd.com/read/27936202/new-altered-non-fibrillar-collagens-in-human-dilated-cardiomyopathy-role-in-the-remodeling-process
#5
Carolina Gil-Cayuela, Esther Roselló-LLetí, Ana Ortega, Estefanía Tarazón, Juan Carlos Triviño, Luis Martínez-Dolz, José Ramón González-Juanatey, Francisca Lago, Manuel Portolés, Miguel Rivera
BACKGROUND: In dilated cardiomyopathy (DCM), cardiac failure is accompanied by profound alterations of extracellular matrix associated with the progression of cardiac dilation and left ventricular (LV) dysfunction. Recently, we reported alterations of non-fibrillar collagen expression in ischemic cardiomyopathy linked to fibrosis and cardiac remodeling. We suspect that expression changes in genes coding for non-fibrillar collagens may have a potential role in DCM development. OBJECTIVES: This study sought to analyze changes in the expression profile of non-fibrillar collagen genes in patients with DCM and to examine relationships between cardiac remodeling parameters and the expression levels of these genes...
2016: PloS One
https://www.readbyqxmd.com/read/27904025/early-raas-blockade-exerts-renoprotective-effects-in-autosomal-recessive-alport-syndrome
#6
Nao Uchida, Naonori Kumagai, Kandai Nozu, Xue Jun Fu, Kazumoto Iijima, Yoshiaki Kondo, Shigeo Kure
Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport syndrome, and two mutations in either COL4A3 or COL4A4 causes an autosomal recessive Alport syndrome. Recently, renin-angiotensin-aldosterone system (RAAS) blockade has been shown to attenuate effectively disease progression in Alport syndrome...
2016: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27859054/alport-syndrome-impact-of-digenic-inheritance-in-patients-management
#7
Chiara Fallerini, Margherita Baldassarri, Eva Trevisson, Valeria Morbidoni, Angela La Manna, Roberta Lazzarin, Andrea Pasini, Giancarlo Barbano, Angela Rosa Pinciaroli, Guido Garosi, Elisa Frullanti, Anna Maria Pinto, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani
Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance. Here we present a new series of families with digenic inheritance and we discuss consequences for genetic counseling and risk assessment. Out of 5 families harboring variants in more than one COL4 gene detected by Next Generation Sequencing (NGS), minigene splicing assay allowed us to identify four as true digenic...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27816395/-alport-syndrome-hereditary-nephropathy-associated-with-mutations-in-genes-coding-for-type-iv-collagen-chains
#8
Laurence Heidet, Marie-Claire Gubler
Alport syndrome is an inherited disorder characterized by the association of a progressive haematuric nephropathy with ultrastructural abnormalities of the glomerular basement membranes, a progressive sensorineural hearing loss and sometimes ocular involvement. Its incidence is less than 1 per 5000 individuals and the disease is the cause of about 2% of end stage renal disease in Europe and the United States. Alport syndrome is clinically and genetically heterogeneous. It is related to mutations in the genes encoding one of three chains, α3, α4 α5 of type IV collagen, the main component of basement membranes, expressed in the glomerular basement membrane...
December 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27811305/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis
#9
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
BACKGROUND: Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula...
November 3, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27796712/female-x-linked-alport-syndrome-with-somatic-mosaicism
#10
Kana Yokota, Kandai Nozu, Shogo Minamikawa, Tomohiko Yamamura, Keita Nakanishi, Hisashi Kaneda, Riku Hamada, Yoshimi Nozu, Akemi Shono, Takeshi Ninchoji, Naoya Morisada, Shingo Ishimori, Junya Fujimura, Tomoko Horinouchi, Hiroshi Kaito, Koichi Nakanishi, Ichiro Morioka, Mariko Taniguchi-Ikeda, Kazumoto Iijima
BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies. In females, somatic mosaic variants are rarely reported in XLAS, and it is not clear what determines severity. METHODS: Two females with somatic mosaic mutations in COL4A5 with variant frequencies of 17...
October 31, 2016: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/27725546/a-novel-mutation-in-a-japanese-family-with-x-linked-alport-syndrome
#11
Yoshifusa Abe, Masayuki Iyoda, Kandai Nozu, Satoshi Hibino, Kei Hihara, Yutaka Yamaguchi, Tomohiko Yamamura, Shogo Minamikawa, Kazumoto Iijima, Takanori Shibata, Kazuo Itabashi
We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27627812/x-linked-and-autosomal-recessive-alport-syndrome-pathogenic-variant-features-and-further-genotype-phenotype-correlations
#12
Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset...
2016: PloS One
https://www.readbyqxmd.com/read/27581768/identification-of-p53-target-genes-in-danio-rerio
#13
Barbara Mandriani, Stefano Castellana, Carmela Rinaldi, Marta Manzoni, Santina Venuto, Eva Rodriguez-Aznar, Juan Galceran, M Angela Nieto, Giuseppe Borsani, Eugenio Monti, Tommaso Mazza, Giuseppe Merla, Lucia Micale
To orchestrate the genomic response to cellular stress signals, p53 recognizes and binds to DNA containing specific and well-characterized p53-responsive elements (REs). Differences in RE sequences can strongly affect the p53 transactivation capacity and occur even between closely related species. Therefore, the identification and characterization of a species-specific p53 Binding sistes (BS) consensus sequence and of the associated target genes may help to provide new insights into the evolution of the p53 regulatory networks across different species...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27576055/collagen-iv-diseases-a-focus-on-the-glomerular-basement-membrane-in-alport-syndrome
#14
REVIEW
Dominic Cosgrove, Shiguang Liu
Alport syndrome is the result of mutations in any of three type IV collagen genes, COL4A3, COL4A4, or COL4A5. Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. In the glomerulus, the mature glomerular basement membrane type IV collagen network, normally comprised of two separate networks, α3(IV)/α4(IV)/α5(IV) and α1(IV)/α2(IV), is comprised entirely of collagen α1(IV)/α2. This review addresses the current state of our knowledge regarding the consequence of this change in basement membrane composition, including both the direct, via collagen receptor binding, and indirect, regarding influences on glomerular biomechanics...
August 27, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/27485810/bull-s-eye-and-pigment-maculopathy-are-further-retinal-manifestations-of-an-abnormal-bruch-s-membrane-in-alport-syndrome
#15
Judy Savige, Yanyan Wang, Andrew Crawford, James Smith, Andrew Symons, Heather Mack, Kathy Nicholls, Diane Wilson, Deb Colville
BACKGROUND AND OBJECTIVES: The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. METHODS: We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All individuals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan)...
August 2, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27434427/screening-of-living-kidney-donors-for-genetic-diseases-using-a-comprehensive-genetic-testing-strategy
#16
C P Thomas, M A Mansilla, R Sompallae, S O Mason, C J Nishimura, M J Kimble, C A Campbell, A E Kwitek, B W Darbro, Z A Stewart, R J H Smith
Related living kidney donors (LKDs) are at higher risk of end-stage renal disease (ESRD) compared with unrelated LKDs. A genetic panel was developed to screen 115 genes associated with renal diseases. We used this panel to screen six negative controls, four transplant candidates with presumed genetic renal disease and six related LKDs. After removing common variants, pathogenicity was predicted using six algorithms to score genetic variants based on conservation and function. All variants were evaluated in the context of patient phenotype and clinical data...
February 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/27432120/a-potential-target-gene-for-the-host-directed-therapy-of-mycobacterial-infection-in-murine-macrophages
#17
Zhang Bao, Ran Chen, Pei Zhang, Shan Lu, Xing Chen, Yake Yao, Xiaozheng Jin, Yilan Sun, Jianying Zhou
Mycobacterium tuberculosis (MTB), one of the major bacterial pathogens for lethal infectious diseases, is capable of surviving within the phagosomes of host alveolar macrophages; therefore, host genetic variations may alter the susceptibility to MTB. In this study, to identify host genes exploited by MTB during infection, genes were non-selectively inactivated using lentivirus-based antisense RNA methods in Raw264.7 macrophages, and the cells that survived virulent MTB infection were then screened. Following DNA sequencing of the surviving cell clones, 26 host genes affecting susceptibility to MTB were identified and their pathways were analyzed by bioinformatics analysis...
September 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27190376/a-novel-col4a1-frameshift-mutation-in-familial-kidney-disease-the-importance-of-the-c-terminal-nc1-domain-of-type-iv-collagen
#18
Daniel P Gale, D Deren Oygar, Fujun Lin, P Derin Oygar, Nadia Khan, Thomas M F Connor, Marta Lapsley, Patrick H Maxwell, Guy H Neild
BACKGROUND: Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts. METHODS: We used genome-wide linkage analysis, whole exome sequencing and cosegregation analyses. RESULTS: We identified a novel frameshift mutation, c.4611_4612insG:p.T1537fs, in exon 49 of COL4A1...
April 8, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27190345/advances-and-unmet-needs-in-genetic-basic-and-clinical-science-in-alport-syndrome-report-from-the-2015-international-workshop-on-alport-syndrome
#19
Oliver Gross, Clifford E Kashtan, Michelle N Rheault, Frances Flinter, Judith Savige, Jeffrey H Miner, Roser Torra, Elisabet Ars, Constantinos Deltas, Isavella Savva, Laura Perin, Alessandra Renieri, Francesca Ariani, Francesca Mari, Colin Baigent, Parminder Judge, Bertrand Knebelman, Laurence Heidet, Sharon Lagas, Dave Blatt, Jie Ding, Yanqin Zhang, Daniel P Gale, Marco Prunotto, Yong Xue, Asher D Schachter, Lori C G Morton, Jacqui Blem, Michael Huang, Shiguang Liu, Sebastien Vallee, Daniel Renault, Julia Schifter, Jules Skelding, Susie Gear, Tim Friede, A Neil Turner, Rachel Lennon
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expand and intensify research towards discovering new therapeutic targets and new therapies...
May 10, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/26995302/raas-inhibition-and-the-course-of-alport-syndrome
#20
REVIEW
Isavella Savva, Alkis Pierides, Constantinos Deltas
Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder mutations will do so at older ages, even after 50 years. Frequent extrarenal manifestations are hearing loss and ocular abnormalities. AS is a genetically heterogeneous collagen IV nephropathy, with 85% of the cases caused by mutations in the X-linked COL4A5 gene and the rest by homozygous or compound heterozygous mutations in either the COL4A3 or the COL4A4 gene on chromosome 2q36-37...
May 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
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