CTNS mutations in publicly-available human cystinosis cell lines
نویسندگان
چکیده
منابع مشابه
CTNS mutations in publicly-available human cystinosis cell lines
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information. During studies directed toward population frequency assessments of cystinosis, a rare heritable disorder, we sequenced the CTNS gene from 14 cystinosis-related s...
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Cell Lines for Disease-Associated Mutations in 11 Genes, Susan H. Bernacki, Jeanne C. Beck, Kasinathan Muralidharan, Frederick V. Schaefer, Antony E. Shrimpton, Kristy L. Richie, Barbara C. Levin, Genevieve Pont-Kingdon, and Timothy T. Stenzel ( Department of Pathology, Duke University Medical Center, Durham, NC; 2 Coriell Cell Repositories, Coriell Institute for Medical Research, Camden, NJ; 3...
متن کاملFirst Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely...
متن کاملCTNS molecular genetics profile in a Persian nephropathic cystinosis population.
PURPOSE In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysi...
متن کاملInfantile Nephropathic Cystinosis: A Novel CTNS Mutation İnfantil Nefropatik Sistinozis: CTNS Geninde Yeni Bir Mutasyon
©Copyright 2017 by the Atatürk University School of Medicine Available online at www.eurasianjmed.com ABSTRACT Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complication...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2015
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2015.10.007