1,814 results match your criteria Cystinuria


Computational analysis identifies druggable mutations in human rBAT mediated Cystinuria.

J Biomol Struct Dyn 2020 Jun 30:1-10. Epub 2020 Jun 30.

Homi Bhabha National Institute, Mumbai, India.

Cqm1 protein acts as the receptor for mosquito-larvicidal binary (BinAB) toxin that is used worldwide for mosquito control. We found amino acid transporter protein, rBAT, as phylogenetically closest Cqm1 homolog in humans. The present study reveals large evolutionary distance between Cqm1 and rBAT, and rBAT ectodomain lacks the sequence motif which serves as binding-site for the BinAB toxin. Read More

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http://dx.doi.org/10.1080/07391102.2020.1784792DOI Listing

[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

Urologiia 2020 Jun(3):81-86

I.M. Sechenov First Moscow State Medical University of Ministry of Public Health of the Russian Federation, Moscow, Russia.

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. Read More

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Re: CRISPR/Cas9 Engineering of Albino Cystinuria Type A Mice.

Authors:
Dean G Assimos

J Urol 2020 Jun 18:101097JU000000000000117303. Epub 2020 Jun 18.

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http://dx.doi.org/10.1097/JU.0000000000001173.03DOI Listing

Genetics of kidney stone disease.

Nat Rev Urol 2020 Jul 12;17(7):407-421. Epub 2020 Jun 12.

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Kidney stone disease (nephrolithiasis) is a common problem that can be associated with alterations in urinary solute composition including hypercalciuria. Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is ∼15%. However, for the majority of individuals, nephrolithiasis has a multifactorial aetiology involving genetic and environmental factors. Read More

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http://dx.doi.org/10.1038/s41585-020-0332-xDOI Listing

Update on cystine stones: current and future concepts in treatment.

Intractable Rare Dis Res 2020 May;9(2):71-78

Clinic of Dermatology, Dr. Brinkmann, Schult & Samimi-Fard. Gladbeck, Germany.

Cystine stones are relatively uncommon compared with other stone compositions, constituting just 1% to 2% of adult urinary tract stone diseases, and accounting for up to 10% of pediatric stone diseases. Two responsible genes of cystinuria have been identified, the SLC3A1 and the SLC7A9. Cystinuria is diagnosed by family history, stone analysis, or by measurement of urine cystine excretion. Read More

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http://dx.doi.org/10.5582/irdr.2020.03006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263987PMC

Elastosis perforans serpiginosa induced by d-penicillamine treated with cyclosporine and allopurinol.

Dermatol Ther 2020 May 27:e13692. Epub 2020 May 27.

Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Puerta del Mar, Cádiz, Spain.

Elastosis perforans serpiginosa (EPS) is a rare condition within the group of perforating dermatoses. It is characterized by the synthesis of anomalous elastic fibers that are eliminated through perforating channels (transepidermal elimination). It is classified into three subtypes. Read More

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http://dx.doi.org/10.1111/dth.13692DOI Listing

The Use of Captopril-Angiotensin Converting Enzyme (ACE) Inhibitor for Cystinuria During COVID-19 Pandemic.

Urology 2020 07 22;141:182-183. Epub 2020 Apr 22.

Department of Nephrology, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1016/j.urology.2020.04.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174975PMC

Cystine Urolithiasis in Ferrets.

Vet Clin North Am Exot Anim Pract 2020 May;23(2):309-319

Gulf Coast Veterinary Specialists, 8042 Katy Freeway, Houston, TX 77024, USA. Electronic address:

Urolithiasis in captive domestic ferrets has previously been predominantly struvite uroliths, although more recent laboratory submissions show a shift to predominantly cystine uroliths. Genetic mutations for cystinuria have been identified in dogs, and it is suspected that underlying genetic mutations are partly responsible for this disease in ferrets. Currently, surgery remains the only definitive treatment of cystine urolithiasis in ferrets, since dietary dissolution protocols have not been thoroughly explored. Read More

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http://dx.doi.org/10.1016/j.cvex.2020.01.015DOI Listing

A rare initial diagnosis of cystinuria during pregnancy.

Clin Nephrol 2020 Jul;94(1):53-55

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http://dx.doi.org/10.5414/CN109977DOI Listing

Stone formation in patients less than 20 years of age is associated with higher rates of stone recurrence: Results from the Registry for Stones of the Kidney and Ureter (ReSKU).

J Pediatr Urol 2020 Jun 25;16(3):373.e1-373.e6. Epub 2020 Mar 25.

University of California, San Francisco, Department of Urology, 400 Parnassus Ave., A610, San Francisco, CA 94143, USA. Electronic address:

Introduction: Nephrolithiasis is a major source of morbidity in the United States. In recent decades, there has been a notable increase in stone incidence in the pediatric population. We investigate whether recurrent stone formers who had their initial stone episode earlier in life are at risk for more frequent stone recurrences, compared to those with initial episodes later in life. Read More

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http://dx.doi.org/10.1016/j.jpurol.2020.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308197PMC

No stone unturned: The epidemiology and outcomes of paediatric urolithiasis in Manchester, United Kingdom.

J Pediatr Urol 2020 Jun 19;16(3):372.e1-372.e7. Epub 2020 Mar 19.

Royal Manchester Children's Hospital, Manchester, UK.

Background: The epidemiology and risk factors for paediatric urolithiasis (UL) in developed countries are evolving, with increasing rates of metabolic stone-formers. In the United Kingdom (UK), only a single London cohort has been studied in the past three decades. Regional disease patterns across the UK remain unknown. Read More

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http://dx.doi.org/10.1016/j.jpurol.2020.03.009DOI Listing

α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases.

Pediatrics 2020 May 3;145(5). Epub 2020 Apr 3.

Division of Pediatric Nephrology, Department of Pediatrics, University of California, San Francisco, San Francisco, California.

Cystinuria is an autosomal recessive disorder characterized by excessive urinary excretion of cystine, resulting in recurrent cystine kidney stones, often presenting in childhood. Current treatment options for cystinuria include dietary and/or fluid measures and potassium citrate to reduce cystine excretion and/or increase solubility. Tiopronin and D-penicillamine are used in refractory cases to bind cystine in urine, albeit with serious side effects. Read More

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http://dx.doi.org/10.1542/peds.2019-2951DOI Listing

Tolvaptan treatment of cystine urolithiasis in a mouse model of cystinuria.

World J Urol 2020 Mar 18. Epub 2020 Mar 18.

Department of Urology, West China Hospital, Sichuan University, Guoxue Xiang#37, Chengdu, 610041, Sichuan, China.

Introduction: Cystinuria is an inherited disease characterized by increased urinary cystine excretion and recurrent cystine stones. Current treatment regimens have limited effectiveness in preventing stone recurrence and are often poorly tolerated. The aim of this study was to evaluate the effect of tolvaptan, a vasopressin receptor 2 (V2) antagonist, on cystine stone volume in mice with cystinuria. Read More

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http://dx.doi.org/10.1007/s00345-020-03166-3DOI Listing
March 2020
2.666 Impact Factor

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in and .

Front Genet 2020 18;11:74. Epub 2020 Feb 18.

Department of Urology, Hunan Children's Hospital, Changsha, China.

Background: Cystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated and genes are the cause of CU, a global disorder. Read More

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http://dx.doi.org/10.3389/fgene.2020.00074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040229PMC
February 2020

[Nephrolithiasis: From mechanisms to preventive medical treatment].

Nephrol Ther 2020 Feb 29;16(1):65-75. Epub 2020 Feb 29.

Service de physiologie-explorations fonctionnelles, hôpital Tenon, AP-HP, 75020 Paris, France.

Renal lithiasis is a frequent pathology (prevalence ranging from 10 to 12% in France) and a recurrent condition. It is associated with chronic kidney disease and is responsible for 2 to 3% of cases of end-stage renal disease, especially if it is associated with nephrocalcinosis and/or is part of a monogenic disease (1.6% of lithiasis in adults, including 1% of cystinuria). Read More

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http://dx.doi.org/10.1016/j.nephro.2020.01.001DOI Listing
February 2020

The effect of additional drug therapy as metaphylaxis in patients with cystinuria: a systematic review.

Minerva Urol Nefrol 2020 Feb 19. Epub 2020 Feb 19.

Department of Urology, Amsterdam UMC, Amsterdam, the Netherlands.

Introduction: To systematically review the effect of additional drug therapy as metaphylaxis in patients with cystinuria.

Evidence Acquisition: A literature search of three databases (MEDLINE, Embase and the Cochrane Library) was performed according to the PRISMA-guidelines enclosing articles published up to May 2019. A total of 1117 articles were screened. Read More

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http://dx.doi.org/10.23736/S0393-2249.20.03704-2DOI Listing
February 2020

CRISPR/Cas9 engineering of albino cystinuria Type A mice.

Genesis 2020 May 20;58(5):e23357. Epub 2020 Feb 20.

Department of Medicine, Division of Nephrology and Hypertension, Vanderbilt University Medical Center, Nashville, Tennessee.

Cystinuria Type A is a relatively common genetic kidney disease occurring in 1 in 7,000 people worldwide that results from mutation of the cystine transporter rBAT encoded by Slc3a1. We used CRISPR/Cas9 technology to engineer cystinuria Type A mice via genome editing of the C57BL/6NHsd background. These mice are an improvement on currently available models as they are on a coisogenic genetic background and have a single defined mutation. Read More

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http://dx.doi.org/10.1002/dvg.23357DOI Listing

Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement.

J Endourol 2020 Apr 6. Epub 2020 Apr 6.

UC San Diego Health, San Diego, California.

Cystinuria is a genetic disorder with both autosomal recessive and incompletely dominant inheritance. The disorder disrupts cystine and other dibasic amino acid transport in proximal tubules of the kidney, resulting in recurrent kidney stone formation. Currently, there are no consensus guidelines on evaluation and management of this disease. Read More

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http://dx.doi.org/10.1089/end.2019.0703DOI Listing

Cystinuria in association with cataract.

Indian J Ophthalmol 2020 01;68(1):209

Department of Ophthalmology, IGIMS, Patna, Bihar, India.

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http://dx.doi.org/10.4103/ijo.IJO_1330_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951148PMC
January 2020

Nephrotic syndrome in a patient with cystinuria: Answers.

Pediatr Nephrol 2020 Jun 13;35(6):979-980. Epub 2019 Dec 13.

Department of Pediatric Nephrology, Ankara University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04440-2DOI Listing

Nephrotic syndrome in a patient with cystinuria: Questions.

Pediatr Nephrol 2020 Jun 13;35(6):977. Epub 2019 Dec 13.

Department of Pediatric Nephrology, Ankara University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00467-019-04439-9DOI Listing

Assessment of health-related quality of life in patients with cystinuria on tiopronin therapy.

Urolithiasis 2020 Aug 13;48(4):313-320. Epub 2019 Dec 13.

University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Cystinuria comprises less than 1% of kidney stones and is associated with impaired health-related quality of life (HRQOL). Limited evidence is available regarding HRQOL of patients with cystinuria treated with tiopronin (Thiola). The objective of this study was to assess the HRQOL of patients with or without tiopronin treatment. Read More

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http://dx.doi.org/10.1007/s00240-019-01174-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335368PMC

Effect of Nanodiamond Surface Chemistry on Adsorption and Release of Tiopronin.

Diam Relat Mater 2019 Dec 22;100. Epub 2019 Oct 22.

Department of Chemistry, Missouri University of Science & Technology, 400 W. 11 Street, 104 Schrenk Hall, Rolla, MO 65409, USA.

Tiopronin is an FDA-approved thiol drug currently used to treat cystinuria and rheumatoid arthritis. However, due to its antioxidant properties, it may be beneficial in a variety of other conditions. One primary obstacle to its wider application is its limited bioavailability, which necessitates administration of high systemic doses to achieve localized therapeutic effects. Read More

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http://dx.doi.org/10.1016/j.diamond.2019.107590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6897389PMC
December 2019

Epidemiology of feline urolithiasis in Mexico (2006-2017).

JFMS Open Rep 2019 Jul-Dec;5(2):2055116919885699. Epub 2019 Nov 24.

Hospital Veterinario para Pequeñas Especies de la Facultad de Medicina Veterinaria y Zootecnia de la Universidad Autónoma del Estado de México, Toluca-México, México.

Objectives: The objectives of this study were to identify the proportions of different types of uroliths, characterize the population of cats that present with urolithiasis and determine possible predisposing factors in a population of Mexican cats.

Methods: This study analyzed clinical specimens of feline urolithiasis submitted to our laboratory in the period from 2006 to 2017. The mineral composition of the uroliths was determined by qualitative and quantitative mineral analyses, performed by stereoscopic microscopy and infrared spectroscopy. Read More

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http://dx.doi.org/10.1177/2055116919885699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878601PMC
November 2019

What are the main challenges to the pharmacological management of cystinuria?

Expert Opin Pharmacother 2020 Feb 14;21(2):131-133. Epub 2019 Nov 14.

Section of Urology, Department of Surgery, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH, USA.

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http://dx.doi.org/10.1080/14656566.2019.1691522DOI Listing
February 2020

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Hum Genet 2019 Dec 2;138(11-12):1359-1377. Epub 2019 Nov 2.

Department of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, 171 77, Stockholm, Sweden.

The human solute carrier (SLC) superfamily of transporters is comprised of over 400 membrane-bound proteins, and plays essential roles in a multitude of physiological and pharmacological processes. In addition, perturbation of SLC transporter function underlies numerous human diseases, which renders SLC transporters attractive drug targets. Common genetic polymorphisms in SLC genes have been associated with inter-individual differences in drug efficacy and toxicity. Read More

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http://dx.doi.org/10.1007/s00439-019-02081-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874521PMC
December 2019

Minimal change disease induced by tiopronin: a rare case report and a review of the literature.

Ann Transl Med 2019 Aug;7(16):398

Department of Pharmacy, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China.

Tiopronin (TP), a glycine derivative with a free thiol, is extensively used for the treatment of cystinuria. Moreover, TP is usually prescribed as hepatoprotective medicine in China. In the present case, a 36-year-old female who presented with foamy urine and general edema was admitted to the hospital. Read More

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http://dx.doi.org/10.21037/atm.2019.07.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736807PMC
August 2019
3 Reads

[Inherited kidney stones: A nephrology center experience].

Prog Urol 2019 Dec 16;29(16):962-973. Epub 2019 Sep 16.

Service de médecine A, hôpital Charles-Nicolle, Tunis, Tunisie; Faculté de médecine de Tunis, université de Tunis El Manar, Tunis, Tunisie.

Introduction: Genetic factors must be considered in etiological diagnosis of urinary lithiasis. The aim of this study was to determine clinical, metabolic characteristics and the progression of hereditary urinary lithiasis in our patients.

Methods: A retrospective study was conducted between 2008 and 2018 and 60 patients were included. Read More

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http://dx.doi.org/10.1016/j.purol.2019.08.262DOI Listing
December 2019
3 Reads

Re: Metabolic Consequences of Cystinuria.

Authors:
Dean G Assimos

J Urol 2019 12 18;202(6):1091-1093. Epub 2019 Sep 18.

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http://dx.doi.org/10.1097/JU.0000000000000557DOI Listing
December 2019
1 Read

A novel fluorescent probe for rapidly detection cysteine in cystinuria urine, living cancer/normal cells and BALB/c nude mice.

Spectrochim Acta A Mol Biomol Spectrosc 2020 Jan 27;225:117490. Epub 2019 Aug 27.

Jiangsu Province Hi-Tech Key Laboratory for Biomedical Research, School of Chemistry and Chemical Engineering, Southeast University, Nanjing, Jiangsu 211189, PR China. Electronic address:

Cysteine (Cys), an important organic small molecule containing sulfhydryl groups, plays paramount functions in human pathologies and physiologies. The detection of Cys in living vivo is essential for studying its roles. Here, we designed and synthesized a novel red-emission fluorescent probe AXPI-Cys with highly sensitivity (LOD = 48. Read More

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http://dx.doi.org/10.1016/j.saa.2019.117490DOI Listing
January 2020
1 Read

[A Case of Long-Term Treatment with Extracorporeal Shock Wave Lithotripsy and Follow-Up for Cystine Calculi by Cystinuria].

Hinyokika Kiyo 2019 Jun;65(6):209-213

The Department of Urology, Ijinkai Takeda General Hospital.

For the management of patients with cystinuria, forced hydration and medication have been used to prevent stone recurrence and growth, but not a few cystine stones require surgical intervention. However, the long-term follow-up data about surgical intervention for cystine stones is lacking. Here, we report a case of cystine calculi of cystinuria with many sessions of extracorporeal shock wave lithotripsy (ESWL) during the long-term follow-up period. Read More

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http://hdl.handle.net/2433/243917
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http://dx.doi.org/10.14989/ActaUrolJap_65_6_209DOI Listing
June 2019
2 Reads

A highly selective and sensitive fluorescent sensor based on Tb-functionalized MOFs to determine arginine in urine: a potential application for the diagnosis of cystinuria.

Analyst 2019 Oct 5;144(19):5875-5881. Epub 2019 Sep 5.

Inner Mongolia Key Laboratory of Chemistry and Physics of Rare Earth Materials, School of Chemistry and Chemical Engineering, Inner Mongolia University, Hohhot 010021, P.R. China.

A unique metal-organic framework with the formula [Cd(HL)(L)·HO]·3HO (HL = 5,5'-(1H-1,2,4-triazole-3,5-diyl)diisophthalic acid) was successfully constructed under solvothermal conditions. The frameworks with multiple free Lewis base sites and Lewis acid sites exhibited easily sensitized properties. After the encapsulation of Tb cations, the as-synthesized Tb@Cd-MOF demonstrated strong luminescence induced by the efficient energy transfer from the bridging ligands to the Tb cations, with the potential to serve as a chemical sensor. Read More

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http://dx.doi.org/10.1039/c9an01204dDOI Listing
October 2019
1 Read

Fluorescence Turn-On, Specific Detection of Cystine in Human Blood Plasma and Urine Samples by Nitrogen-Doped Carbon Quantum Dots.

ACS Omega 2019 Jan 11;4(1):1007-1014. Epub 2019 Jan 11.

Electrodics and Electrocatalysis Division and Academy of Scientific and Innovative Research (AcSIR), CSIR-Central Electrochemical Research Institute (CECRI), Karaikudi 630003, India.

Determination of cystine in blood and urine is very important to monitor and maintain the bio metabolism, immune systems, and prevent the tissue/DNA damage from free radicals, diagnosis of cystinuria disease, cancer, and related autoimmune diseases. Among the various detection methods, fluorometric detection is simple, rapid, and sensitive to cystine using nontoxic, inexpensive, highly fluorescent, stable carbon quantum dots (CQDs). The CQDs are prepared from -phenylenediamine by the hydrothermal method to get the inherent optical features of pH-dependent and excitation wavelength-independent fluorescence emission along with high aqueous stability due to pre-eminent nitrogen content. Read More

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http://dx.doi.org/10.1021/acsomega.8b03187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6648919PMC
January 2019
3 Reads

Detection of tiopronin in body fluids and pharmaceutical products using red-emissive DNA-stabilized silver nanoclusters as a fluorescent probe.

Mikrochim Acta 2019 08 8;186(9):609. Epub 2019 Aug 8.

College of Chemistry, Chongqing Normal University, Chongqing, 401331, China.

Tiopronin is a widely used drug for treatment of cystinuria, rheumatoid arthritis and hepatic disorders. It is also an antidote to heavy metal poisoning and a radioprotective agent. A method is described for rapid and sensitive determination of tiopronin using DNA-stabilized silver nanoclusters (DNA-AgNCs) as a fluorescent probe. Read More

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http://dx.doi.org/10.1007/s00604-019-3730-0DOI Listing
August 2019
3 Reads

Cystine Urolithiasis in Early Childhood.

Indian J Clin Biochem 2019 Jul 20;34(3):361-362. Epub 2018 Jul 20.

Department of Paediatric Surgery, K.S. Hegde Medical Academy, NITTE (Deemed to be University), Mangalore, Karnataka India.

Urolithiasis in children is rare with reported incidence of 1.8 per 1000 children. A metabolic cause is identifiable in 40-50% of children with stones and is considered when multiple, recurrent and bilateral. Read More

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http://dx.doi.org/10.1007/s12291-018-0783-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660518PMC
July 2019
2 Reads

NMR experiments on the transient interaction of the intrinsically disordered N-terminal peptide of cystathionine-β-synthase with heme.

J Magn Reson 2019 11 16;308:106561. Epub 2019 Jul 16.

Leibniz Institute on Aging - Fritz Lipmann Institute, Beutenbergstr. 11, D-07745 Jena, Germany. Electronic address:

The N-terminal segment of human cystathionine-β-synthase (CBS(1-40)) constitutes an intrinsically disordered protein stretch that transiently interacts with heme. We illustrate that the HCBCACON experimental protocol provides an efficient alternative approach for probing transient interactions of intrinsically disordered proteins with heme in situations where the applicability of the conventional [H, N]-HSQC experiment may be limited. This experiment starting with the excitation of protein side chain protons delivers information about the proline residues and thereby makes it possible to use these residues in interaction mapping experiments. Read More

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http://dx.doi.org/10.1016/j.jmr.2019.07.048DOI Listing
November 2019
1 Read
2.510 Impact Factor

Metabolic consequences of cystinuria.

BMC Nephrol 2019 06 20;20(1):227. Epub 2019 Jun 20.

Department of Veterans Affairs, Tennessee Valley Healthcare System, Nashville, TN, 37212, USA.

Background: Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man. We phenotypically characterized a mouse model of cystinuria type A resultant from knockout of Slc3a1. Read More

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http://dx.doi.org/10.1186/s12882-019-1417-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585015PMC
June 2019
23 Reads

Vertical flow paper-based plasmonic device for cysteine detection.

Biomed Microdevices 2019 06 15;21(3):55. Epub 2019 Jun 15.

School of Biological Sciences, UM-DAE Centre for Excellence in Basic Sciences, University of Mumbai, Vidya Nagari, Kalina campus, Santacruz (East), Mumbai, 400098, India.

Cystinuria, is an autosomal recessive genetic disorder involving increasingly high levels of poorly soluble cysteine in urine leading to formation of stones. Developing a facile, low-cost, point-of-care and selective sensor for diagnosis of cysteine is imperative. Accordingly, for the detection of cysteine, the present study demonstrates an inexpensive colorimetric, paper-based vertical flow plasmonic micro-well device with a two-minute turn-around time. Read More

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http://dx.doi.org/10.1007/s10544-019-0399-4DOI Listing
June 2019
1 Read

A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement.

Front Pediatr 2019 9;7:127. Epub 2019 Apr 9.

Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Read More

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http://dx.doi.org/10.3389/fped.2019.00127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465885PMC
April 2019
9 Reads

Outcomes and Long-term Follow-up of Patients with Cystine Stones: a Systematic Review.

Curr Urol Rep 2019 Apr 15;20(6):27. Epub 2019 Apr 15.

Department of Urology, University Hospital Southampton, Southampton, UK.

Purpose Of Review: Cystine stone patients can be difficult to manage with frequent recurrences. We performed a systematic review with a view to assessing interventions, compliance and their long-term outcomes.

Recent Findings: Ten retrospective observational studies (253 patients) assessed the outcomes and long-term follow-up of cystine stone patients. Read More

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http://dx.doi.org/10.1007/s11934-019-0891-7DOI Listing
April 2019
7 Reads

Effect of increasing doses of cystine-binding thiol drugs on cystine capacity in patients with cystinuria.

Urolithiasis 2019 Dec 13;47(6):549-555. Epub 2019 Apr 13.

Nephrology Division, NYU Langone Medical Center, New York, NY, USA.

Appropriate dosing of cystine-binding thiol drugs in the management of cystinuria has been based on clinical stone activity. When new stones form, the dose is increased. Currently, there is no method of measuring urinary drug levels to guide the titration of therapy. Read More

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http://dx.doi.org/10.1007/s00240-019-01128-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790278PMC
December 2019
8 Reads

Re: Urine Proteomic Profiling in Patients with Nephrolithiasis and Cystinuria.

Authors:
Dean G Assimos

J Urol 2019 07 7;202(1):25. Epub 2019 Jun 7.

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http://dx.doi.org/10.1097/JU.0000000000000265DOI Listing
July 2019
6 Reads

Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre.

Urolithiasis 2019 Aug 25;47(4):357-363. Epub 2019 Feb 25.

Department of Urology, Guy's Hospital, 1st Floor Southwark Wing, Great Maze Pond, London, SE1 9RT, UK.

Higher blood pressures (mean systolic difference 16.8 mmHg) when compared to matched individuals are already reported in patients with calcium urolithiasis. We present the prevalence of hypertension and renal impairment in patients with cystinuria from our specialist single centre. Read More

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http://dx.doi.org/10.1007/s00240-019-01110-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647081PMC
August 2019
6 Reads

Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France.

BJU Int 2019 11 25;124(5):849-861. Epub 2019 Mar 25.

Department of Physiology, Functional Renal Explorations Department, AP-HP (Public Assistance Hospitals of Paris), Georges Pompidou European Hospital, Paris Descartes University, Paris, France.

Objective: To evaluate medical treatments, in terms of adverse events (AEs) and therapeutic goals, in a large series of patients with cystinuria.

Patients And Methods: Data from 442 patients with cystinuria were recorded retrospectively. Crystalluria was studied in 89 patients. Read More

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http://dx.doi.org/10.1111/bju.14721DOI Listing
November 2019
15 Reads

Inborn errors of metabolism in the 21 century: past to present.

Ann Transl Med 2018 Dec;6(24):467

Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

The 21 century is an exciting time to be in the field of metabolic medicine. As with many fields, one of the keys to anticipating the future is to understand the past. The term "inborn error of metabolism" was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, cystinuria and albinism). Read More

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http://dx.doi.org/10.21037/atm.2018.11.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331363PMC
December 2018
4 Reads

Gene therapy for cystinuria.

Urolithiasis 2019 06 25;47(3):309-310. Epub 2019 Jan 25.

Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Guoxue Xiang#37, Chengdu, 610041, Sichuan, China.

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http://dx.doi.org/10.1007/s00240-019-01111-7DOI Listing
June 2019
10 Reads

Cystinuria in a 13-Month-Old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.

Authors:
M D Al-Mendalawi

Indian J Nephrol 2018 Nov-Dec;28(6):490

Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq.

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http://www.indianjnephrol.org/text.asp?2018/28/6/490/238188
Publisher Site
http://dx.doi.org/10.4103/ijn.IJN_46_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309381PMC
January 2019
17 Reads