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https://www.readbyqxmd.com/read/29142990/the-chemical-chaperone-pba-reduces-er-stress-and-autophagy-and-increases-collagen-iv-%C3%AE-5-expression-in-cultured-fibroblasts-from-men-with-x-linked-alport-syndrome-and-missense-mutations
#1
Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige
Introduction: X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations. Methods: Dermal fibroblast cultures were established from 2 affected men and 3 normals. Proliferation rates were examined, the collagen IV α5 chain localized with immunostaining, and levels of the intra- and extracellular chains quantitated with an in-house enzyme-linked immunosorbent assay...
July 2017: KI Reports
https://www.readbyqxmd.com/read/29142939/negative-staining-for-col4a5-correlates-with-worse-prognosis-and-more-severe-ultrastructural-alterations-in-males-with-alport-syndrome
#2
Samar M Said, Mary E Fidler, Anthony M Valeri, Brooke McCann, Wade Fiedler, Lynn D Cornell, Mariam Priya Alexander, Ahmed M Alkhunaizi, Anne Sullivan, Carl H Cramer, Marie C Hogan, Samih H Nasr
Introduction: Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children. Methods: To determine the prognostic value of loss of staining for collagen type IV alpha 5 (COL4A5) and its relationship with the ultrastructural glomerular basement membrane alterations, we performed direct immunofluorescence using a mixture of fluorescein isothiocyanate-conjugated and Texas-red conjugated antibodies against COL4A5 and COL4A2, respectively, on renal biopsies of 25 males with AS (including 16 who were diagnosed in adulthood)...
January 2017: KI Reports
https://www.readbyqxmd.com/read/29138824/genetic-mutational-testing-of-chinese-children-with-familial-hematuria-with-biopsy%C3%A2-proven-fsgs
#3
Yongzhen Li, Ying Wang, Qingnan He, Xiqiang Dang, Yan Cao, Xiaochuan Wu, Shuanghong Mo, Xiaoxie He, Zhuwen Yi
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is considered a podocyte disease due to the fact that in the majority of patients with proven‑FSGS, the lesion results from defects in the podocyte structure or function. However, FSGS does not result exclusively from podocyte‑associated genes, however also from other genes including collagen IV‑associated genes. Patients who carry the collagen type IVA3 chain (COL4A3) or COL4A4 mutations usually exhibit Alport Syndrome (AS), thin basement membrane neuropathy or familial hematuria (FH)...
November 10, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29130116/hearing-loss-and-renal-syndromes
#4
Paul J Phelan, Michelle N Rheault
The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems...
November 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29098738/urine-derived-podocytes-lineage-cells-a-promising-tool-for-precision-medicine-in-alport-syndrome
#5
S Daga, M Baldassarri, C Lo Rizzo, C Fallerini, V Imperatore, I Longo, E Frullanti, E Landucci, L Massella, C Pecoraro, G Garosi, F Ariani, M A Mencarelli, F Mari, A Renieri, A M Pinto
Alport Syndrome (ATS) is a rare genetic disorder caused by collagen IV genes mutations, leading to Glomerular Basement Membrane (GBM) damage up to end-stage renal disease. Podocytes, the main component of the glomerular structure, are the only cells able to produce all the three collagens IV alpha chains associated to ATS and thus, they are key-players in ATS pathogenesis. However, podocytes-targeted therapeutic strategies, have been hampered by the difficulty of non-invasively isolating them and transcripts-based diagnostic approaches are complicated by the inaccessibility of other COL4 chains-expressing cells...
November 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/29089023/phenotype-variability-in-a-large-spanish-family-with-alport-syndrome-associated-with-novel-mutations-in-col4a3-gene
#6
C Cervera-Acedo, A Coloma, E Huarte-Loza, M Sierra-Carpio, E Domínguez-Garrido
BACKGROUND: Alport syndrome is an inherited renal disorder characterized by glomerular basement membrane lesions with hematuria, proteinuria and frequent hearing defects and ocular abnormalities. The disease is associated with mutations in genes encoding α3, α4, or α5 chains of type IV collagen, namely COL4A3 and COL4A4 in chromosome 2 and COL4A5 in chromosome X. In contrast to the well-known X-linked and autosomal recessive phenotypes, there is very little information about the autosomal dominant...
October 31, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29066492/granulomatous-thyroiditis-a-case-report-and-literature-review
#7
Darshan P Trivedi, Ramesh Bhagat, Yukihiro Nakanishi, Alun Wang, Krzysztof Moroz, Nadja K Falk
BACKGROUND: Granulomatous disease in the thyroid gland has been linked to viral, bacterial and autoimmune etiologies. The most common granulomatous disease of the thyroid is subacute granulomatous thyroiditis, which is presumed to have a viral or post-viral inflammatory cause. Bacterial etiologies include tuberculosis, actinomycosis, and nocardiosis, but are extremely rare. Disseminated actinomycosis and nocardiosis more commonly affect organ-transplant patients with the highest susceptibility within the first year after transplant surgery...
September 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29045953/-detection-of-large-deletions-in-x-linked-alport-syndrome-using-competitive-multiplex-fluorescence-polymerase-chain-reaction
#8
F Wang, Y Q Zhang, J Ding, L X Yu
OBJECTIVE: To evaluate the ability of multiplex competitive fluorescence polymerase chain reaction in detection of large deletion and duplication genotypes of X-linked Alport syndrome. METHODS: Clinical diagnosis of X-linked Alport syndrome was based on either abnormal staining of type IV collagen α5 chain in the epidermal basement membrane alone or with abnormal staining of type IV collagen α5 chain in the glomerular basement membrane and Bowman's capsule/ultrastructural changes in the glomerular basement membrane typical of Alport syndrome...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28992339/stat3-inhibition-attenuates-the-progressive-phenotypes-of-alport-syndrome-mouse-model
#9
Tsubasa Yokota, Kohei Omachi, Mary Ann Suico, Misato Kamura, Haruka Kojima, Ryosuke Fukuda, Keishi Motomura, Keisuke Teramoto, Shota Kaseda, Jun Kuwazuru, Toru Takeo, Naomi Nakagata, Tsuyoshi Shuto, Hirofumi Kai
Background: Alport syndrome (AS) is a hereditary, progressive nephritis caused by mutation of type IV collagen. Previous studies have shown that activation of signal transducer and activator of transcription 3 (STAT3) exacerbates other renal diseases, but whether STAT3 activation exacerbates AS pathology is still unknown. Here we aim to investigate the involvement of STAT3 in the progression of AS. Method: Phosphorylated STAT3 expression was assessed by immunoblotting analysis of kidneys and glomeruli of an AS mouse model ( Col4a5 G5X mutant)...
August 17, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28969174/simultaneous-bilateral-anterior-and-posterior-lenticonus-in-alport-syndrome
#10
Ravi Kant Bamotra, Meenakshi, Prem Chandra Kesarwani, Shazia Qayum
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, central perimacular and peripheral coalescing fleck retinopathies, and temporal retinal thinning. Although anterior lenticonus is common in Alport syndrome, simultaneous anterior and posterior lenticonus is a rare presentation. We report a case of a 22-year-old female with simultaneous anterior and posterior lenticonus presentation in which ocular examination lead to the detection of Alport syndrome...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28916834/ultrastructural-characterization-of-the-glomerulopathy-in-alport-mice-by-helium-ion-scanning-microscopy-him
#11
Kenji Tsuji, Hani Suleiman, Jeffrey H Miner, James M Daley, Diane E Capen, Teodor G Păunescu, Hua A Jenny Lu
The glomerulus exercises its filtration barrier function by establishing a complex filtration apparatus consisting of podocyte foot processes, glomerular basement membrane and endothelial cells. Disruption of any component of the glomerular filtration barrier leads to glomerular dysfunction, frequently manifested as proteinuria. Ultrastructural studies of the glomerulus by transmission electron microscopy (TEM) and conventional scanning electron microscopy (SEM) have been routinely used to identify and classify various glomerular diseases...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28905837/en-face-optical-coherence-tomography-findings-in-a-case-of-alport-syndrome
#12
In Hwan Cho, Hoon Dong Kim, Sang Joon Jung, Tae Kwann Park
Alport syndrome is a rare hereditary disease that is associated with retinal abnormalities such as dot-and-fleck retinopathy and temporal macular thinning. The main pathophysiological process of Alport syndrome is loss of the collagen network in the basement membrane. However, the alterations in each retinal layer have not been fully evaluated. In the case presented here, we evaluated the retina of a patient with Alport syndrome using en face optical coherence tomography (OCT). The findings suggested that the primary alterations occur in the internal limiting membrane and the retinal pigment epithelium basement membrane which is a part of the Bruch's membrane...
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28898339/-young-woman-daughter-of-a-father-with-alport%C3%A2-s-syndrome-debuts-with-a-impure-nephrotic-syndrome
#13
Fernando González, Gonzalo Méndez, Daniela Navarrete, Emilio Roessler B
No abstract text is available yet for this article.
May 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28884028/spontaneous-coronary-artery-dissection-a-rare-manifestation-of-alport-syndrome
#14
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28881511/-role-of-igg-antibody-to-galactose-deficient-iga1-in-children-with-iga-nephropathy
#15
N Zhou, H Zhang, X R Liu, Q Sun, Q Meng, Z Chen, Y Shen
Objective: In order to learn the serum level of galactose-deficient IgA1 (GdIgA1), IgG antibody to galactose-deficient IgA1(GdIgA1-IgG) and the clinical role of them in IgA nephropathy(IgAN) children. Method: We compared blood levels of GdIgA1, GdIgA1-IgG in 33 children with IgAN, 38 children with other renal disease (including focal segmental glomerular nephritis, minimal change disease, Alport syndrome and thin basement membrane nephropathy) as disease controls, 35 healthy children as normal controls with enzyme-linked immunosorbent assay(ELISA)...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28873450/bromide-supplementation-exacerbated-the-renal-dysfunction-injury-and-fibrosis-in-a-mouse-model-of-alport-syndrome
#16
Tsubasa Yokota, Kohei Omachi, Mary Ann Suico, Haruka Kojima, Misato Kamura, Keisuke Teramoto, Shota Kaseda, Jun Kuwazuru, Tsuyoshi Shuto, Hirofumi Kai
A seminal study recently demonstrated that bromide (Br-) has a critical function in the assembly of type IV collagen in basement membrane (BM), and suggested that Br- supplementation has therapeutic potential for BM diseases. Because salts of bromide (KBr and NaBr) have been used as antiepileptic drugs for several decades, repositioning of Br- for BM diseases is probable. However, the effects of Br- on glomerular basement membrane (GBM) disease such as Alport syndrome (AS) and its impact on the kidney are still unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28864840/renal-auricular-and-ocular-outcomes-of-alport-syndrome-and-their-current-management
#17
Yanqin Zhang, Jie Ding
Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3-5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and some as autosomal recessive or autosomal dominant. The primary manifestations are hematuria, proteinuria, and progressive renal failure, whereas some patients present with sensorineural hearing loss and ocular abnormalities. Renin-angiotensin-aldosterone system blockade is proven to delay the onset of renal failure by reducing proteinuria...
September 1, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28856578/a-case-of-mild-phenotype-alport-syndrome-caused-by-col4a3-mutations
#18
Masafumi Kamijo, Mineaki Kitamura, Kumiko Muta, Tadashi Uramatsu, Yoko Obata, Kandai Nozu, Hiroshi Kaito, Kazumoto Iijima, Hiroshi Mukae, Tomoya Nishino
In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the α5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV collagen α3 chain. These two gene mutations represented a new pattern of mutation and was suggested the association with an atypical α5 chain expression and mild phenotype...
August 30, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28844315/massively-parallel-sequencing-and-targeted-exomes-in-familial-kidney-disease-can-diagnose-underlying-genetic-disorders
#19
Andrew J Mallett, Hugh J McCarthy, Gladys Ho, Katherine Holman, Elizabeth Farnsworth, Chirag Patel, Jeffery T Fletcher, Amali Mallawaarachchi, Catherine Quinlan, Bruce Bennetts, Stephen I Alexander
Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease...
August 23, 2017: Kidney International
https://www.readbyqxmd.com/read/28843411/the-activin-receptor-is-stimulated-in-the-skeleton-vasculature-heart-and-kidney-during-chronic-kidney-disease
#20
Matthew J Williams, Toshifumi Sugatani, Olga A Agapova, Yifu Fang, Joseph P Gaut, Marie-Claude Faugere, Hartmut H Malluche, Keith A Hruska
We examined activin receptor type IIA (ActRIIA) activation in chronic kidney disease (CKD) by signal analysis and inhibition in mice with Alport syndrome using the ActRIIA ligand trap RAP-011 initiated in 75-day-old Alport mice. At 200 days of age, there was severe CKD and associated Mineral and Bone Disorder (CKD-MBD), consisting of osteodystrophy, vascular calcification, cardiac hypertrophy, hyperphosphatemia, hyperparathyroidism, elevated FGF23, and reduced klotho. The CKD-induced bone resorption and osteoblast dysfunction was reversed, and bone formation was increased by RAP-011...
August 23, 2017: Kidney International
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