keyword
MENU ▼
Read by QxMD icon Read
search

Alports

keyword
https://www.readbyqxmd.com/read/29775602/shining-a-light-on-alport-syndrome
#1
Lorna J Hale, Melissa H Little
In this issue of Cell Chemical Biology, Omachi et al. (2018) present a split Nanoluciferase system to identify successful protein trimerization in Alport syndrome. This elegant proof of concept suggests opportunities for drug screening for Alport syndrome and may be transferable to the study of other diseases affecting protein-protein interactions.
May 17, 2018: Cell Chemical Biology
https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#2
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29759420/lysyl-oxidase-like-2-contributes-to-renal-fibrosis-in-col4%C3%AE-3-alport-mice
#3
Dominic Cosgrove, Brianna Dufek, Daniel T Meehan, Duane Delimont, Michael Hartnett, Gina Samuelson, Michael Anne Gratton, Grady Phillips, Deidre A MacKenna, Gretchen Bain
Lysyl oxidase like-2 (LOXL2) is an amine oxidase with both intracellular and extracellular functions. Extracellularly, LOXL2 promotes collagen and elastin crosslinking, whereas intracellularly, LOXL2 has been reported to modify histone H3, stabilize SNAIL, and reduce cell polarity. Although LOXL2 promotes liver and lung fibrosis, little is known regarding its role in renal fibrosis. Here we determine whether LOXL2 influences kidney disease in COL4A3 (-/-) Alport mice. These mice were treated with a small molecule inhibitor selective for LOXL2 or with vehicle and assessed for glomerular sclerosis and fibrosis, albuminuria, blood urea nitrogen, lifespan, pro-fibrotic gene expression and ultrastructure of the glomerular basement membrane...
May 11, 2018: Kidney International
https://www.readbyqxmd.com/read/29742505/the-col4a3-and-col4a4-digenic-mutations-in-cis-result-in-benign-familial-hematuria-in-a-large-chinese-family
#4
Ang Li, Ying-Xia Cui, Xing Lv, Jian-Hong Liu, Er-Zhi Gao, Xiu-Xiu Wei, Xin-Yi Xia, Chun-Lin Gao, Feng-Xia Liu, Zheng-Kun Xia, Asan, Zhi-Hong Liu, Xiao-Jun Li
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report heterozygous COL4A3 and COL4A4 digenic mutations in cis responsible for benign familial hematuria. Using bioinformatics analyses and pedigree verification, we showed that COL4A4 c...
May 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29731057/clinical-outcomes-of-kidney-transplantation-in-patients-with-biopsy-proven-glomerulonephritis
#5
H Park, W Y Park, S S Kang, S M Yeo, S Han, S B Park, K Jin
BACKGROUND: The clinical outcomes after kidney transplantation (KT) according to the types of glomerulonephritis (GN) as the cause of end-stage renal disease (ESRD) are various, but there are not many studies on this. METHODS: Among 1,253 patients who had KT between November 1982 and January 2017, 183 recipients with biopsy-proven GN as the primary cause of ESRD were enrolled. We analyzed the incidence of recurrent GN and the factors associated with recurrence and graft and patient survivals...
May 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29673759/alport-syndrome-and-pierson-syndrome-diseases-of-the-glomerular-basement-membrane
#6
REVIEW
Steven D Funk, Meei-Hua Lin, Jeffrey H Miner
The glomerular basement membrane (GBM) is an important component of the kidney's glomerular filtration barrier. Like all basement membranes, the GBM contains type IV collagen, laminin, nidogen, and heparan sulfate proteoglycan. It is flanked by the podocytes and glomerular endothelial cells that both synthesize it and adhere to it. Mutations that affect the GBM's collagen α3α4α5(IV) components cause Alport syndrome (kidney disease with variable ear and eye defects) and its variants, including thin basement membrane nephropathy...
April 16, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29669314/three-novel-heterozygous-col4a4-mutations-result-in-three-different-collagen-type-iv-kidney-disease-phenotypes
#7
Ang Li, Er-Zhi Gao, Ying-Xia Cui, Jian-Hong Liu, Xing Lv, Xiu-Xiu Wei, Xin-Yi Xia, Chun-Lin Gao, Feng-Xia Liu, Zheng-Kun Xia, Asan, Zhi-Hong Liu, Xiao-Jun Li
Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, and prognosis. Nevertheless, they may result from the same causative genes. Here, we report 3 COL4A4 heterozygous mutations (p.Gly208Arg, p.Ser513Glufs*2, and p.Met1617Cysfs*39) that lead to 3 different collagen type IV kidney disease phenotypes, manifesting as TBMN, ADAS, and FSGS. Using bioinformatics analyses and pedigree verification, we show that these novel variants are pathogenetic and cosegregate with TBMN, ADAS, and FSGS...
2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29668480/the-6th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-11th-2017
#8
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth, spodilocostal dysplasia, precocious puberty has been done with collaboration of Macedonian and foreign researchers...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29643464/osteopontin-drives-renal-metabolic-dysfunction-in-alport-syndrome
#9
Ellen F Carney
No abstract text is available yet for this article.
April 11, 2018: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/29563333/osteopontin-deficiency-ameliorates-alport-pathology-by-preventing-tubular-metabolic-deficits
#10
Wen Ding, Keyvan Yousefi, Stefania Goncalves, Bradley J Goldstein, Alfonso L Sabater, Amy Kloosterboer, Portia Ritter, Guerline Lambert, Armando J Mendez, Lina A Shehadeh
Alport syndrome is a rare hereditary renal disorder with no etiologic therapy. We found that osteopontin (OPN) is highly expressed in the renal tubules of the Alport mouse and plays a causative pathological role. OPN genetic deletion ameliorated albuminuria, hypertension, tubulointerstitial proliferation, renal apoptosis, and hearing and visual deficits in the Alport mouse. In Alport renal tubules we found extensive cholesterol accumulation and increased protein expression of dynamin-3 (DNM3) and LDL receptor (LDLR) in addition to dysmorphic mitochondria with defective bioenergetics...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29551517/alport-syndrome-a-unified-classification-of-genetic-disorders-of-collagen-iv-%C3%AE-345-a-position-paper-of-the-alport-syndrome-classification-working-group
#11
Clifford E Kashtan, Jie Ding, Guido Garosi, Laurence Heidet, Laura Massella, Koichi Nakanishi, Kandai Nozu, Alessandra Renieri, Michelle Rheault, Fang Wang, Oliver Gross
Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly, deposition, or function of the collagen IV α345 molecule, the major collagenous constituent of the mature mammalian glomerular basement membrane. These mutations are associated with a spectrum of nephropathy, from microscopic hematuria to progressive renal disease leading to ESRD, and with extrarenal manifestations such as sensorineural deafness and ocular anomalies. The existing nomenclature for these conditions is confusing and can delay institution of appropriate nephroprotective therapy...
March 15, 2018: Kidney International
https://www.readbyqxmd.com/read/29530752/a-unique-evolution-of-the-kidney-phenotype-in-a-patient-with-autosomal-recessive-alport-syndrome
#12
Gisella Vischini, Meghan E Kapp, Ferrin C Wheeler, Laszlo Hopp, Agnes B Fogo
Alport syndrome is due to mutations in one of the genes encoding (α3,4,5) type IV collagen resulting in defective type IV collagen, a key component of the glomerular basement membrane (GBM). The GBM is initially thin, and with ongoing remodeling, develops a thickened basket-woven appearance. We report a unique case of a 9-year-old boy who was biopsied for hematuria and proteinuria, diagnosed as IgA nephropathy, with normal GBM appearance and thickness. Due to a family history of hematuria and chronic kidney disease, he subsequently underwent genetic evaluation and a mutation of α3 type IV collagen (COL4A3) was detected...
March 9, 2018: Human Pathology
https://www.readbyqxmd.com/read/29526710/a-split-luciferase-based-trimer-formation-assay-as-a-high-throughput-screening-platform-for-therapeutics-in-alport-syndrome
#13
Kohei Omachi, Misato Kamura, Keisuke Teramoto, Haruka Kojima, Tsubasa Yokota, Shota Kaseda, Jun Kuwazuru, Ryosuke Fukuda, Kosuke Koyama, Shingo Matsuyama, Keishi Motomura, Tsuyoshi Shuto, Mary Ann Suico, Hirofumi Kai
Alport syndrome is a hereditary glomerular disease caused by mutation in type IV collagen α3-α5 chains (α3-α5(IV)), which disrupts trimerization, leading to glomerular basement membrane degeneration. Correcting the trimerization of α3/α4/α5 chain is a feasible therapeutic approach, but is hindered by lack of information on the regulation of intracellular α(IV) chain and the absence of high-throughput screening (HTS) platforms to assess α345(IV) trimer formation. Here, we developed sets of split NanoLuc-fusion α345(IV) proteins to monitor α345(IV) trimerization of wild-type and clinically associated mutant α5(IV)...
May 17, 2018: Cell Chemical Biology
https://www.readbyqxmd.com/read/29492669/alport-syndrome-and-pregnancy-a-case-series-and-literature-review
#14
Francesca Brunini, Barbara Zaina, Davide Gianfreda, Wally Ossola, Marisa Giani, Luigi Fedele, Piergiorgio Messa, Gabriella Moroni
PURPOSE: To assess pregnancy outcome in women with Alport syndrome and the impact of pregnancy on the disease progression. METHODS: We describe one of the largest series of pregnancies in Alport syndrome. Seven pregnancies of six women were monitored by a multidisciplinary team of nephrologists and gynecologists. After delivery, patients were followed for at least 3 years. We compare our results with those in the literature. RESULTS: Pregnancy course was uneventful in the patient with isolated microscopic hematuria...
June 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29468058/a-patient-with-men1-and-end-stage-chronic-kidney-disease-due-to-alport-syndrome-decision-making-on-the-eligibility-of-transplantation
#15
Antonio Matrone, Alessandro Brancatella, Piero Marchetti, Enrico Vasile, Ugo Boggi, Rossella Elisei, Filomena Cetani, Claudio Marcocci, Paolo Vitti, Francesco Latrofa
Absence of neoplastic disease in the organ-recipient is required in order to allow organ transplantation. Due to its rarity, no data regarding management of patients with Multiple endocrine neoplasia type 1 (MEN1) and end-stage renal failure candidates for kidney transplantation are available. A 36 year-old man was referred to the present hospital with MEN1, with a neuroendocrine pancreatic tumor and primary hyperparathyroidism and associated Alport syndrome with end stage renal failure. The present study aimed to establish the eligibility of the patient for a kidney transplantation...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29465426/advances-in-molecular-diagnosis-and-therapeutics-in-nephrotic-syndrome-and-focal-and-segmental-glomerulosclerosis
#16
Bedra Sharif, Moumita Barua
PURPOSE OF REVIEW: The widespread adoption of next-generation sequencing by research and clinical laboratories has begun to uncover the previously unknown genetic basis of many diseases. In nephrology, one of the best examples of this is seen in focal and segmental glomerulosclerosis (FSGS) and nephrotic syndrome. We review advances made in 2017 as a result of human and molecular genetic studies as it relates to FSGS and nephrotic syndrome. RECENT FINDINGS: There are more than 50 monogenic genes described in steroid-resistant nephrotic syndrome and FSGS, with seven reported in 2017...
May 2018: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/29456224/alport-s-syndrome-with-focal-segmental-glomerulosclerosis-lesion-pattern-to-recognize
#17
Afnan A Alsahli, Sara I Alshahwan, Amal O Alotaibi, Khaled O Alsaad, Nourah Aloudah, Mahfooz Farooqui, Abdullah A Al Sayyari
The association between Alport's syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM) changes compatible with AS...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29443365/detection-of-choriocapillaris-loss-in-alport-syndrome-with-swept-source-oct-angiography
#18
Swarup S Swaminathan, Parth Shah, Fang Zheng, Giovanni Gregori, Philip J Rosenfeld
A patient previously diagnosed with Alport Syndrome was evaluated using multimodal imaging. Optical coherence tomography (OCT) demonstrated significant thinning of the inner retina within the macula, and inner retinal cysts were found in the peripheral macula. OCT angiography demonstrated loss of the choriocapillaris. Abnormal collagen appears to have multiple deleterious effects on the retinal and choroidal structure and vasculature. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:138-141.].
February 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#19
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29409873/7-year-old-with-alport-syndrome-and-vomiting
#20
Amie Hinshaw, Mohammad El-Baba, Amie Hinshaw
No abstract text is available yet for this article.
January 31, 2018: Gastroenterology
keyword
keyword
40544
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"