| 000 | 02632cam a2200349 a 4500 | ||
|---|---|---|---|
| 003 | EG-GiCUC | ||
| 005 | 20250223031826.0 | ||
| 008 | 171016s2016 ua h f m 000 0 eng d | ||
| 040 |
_aEG-GiCUC _beng _cEG-GiCUC |
||
| 041 | 0 | _aeng | |
| 049 | _aDeposite | ||
| 097 | _aPh.D | ||
| 099 | _aCai01.11.07.Ph.D.2016.No.M | ||
| 100 | 0 | _aNoha Abdelhalim Radwan | |
| 245 | 1 | 0 |
_aMutation scanning of CTNS gene in nephropathic cystinosis / _cNoha Abdelhalim Radwan ; Supervised Ola Abdel Monem Elsisi , Neveen Abdelmonem Soliman , Amaal Abdo Abdelal |
| 246 | 1 | 5 | _aالمسبب لداء اعتلال الكلية السيستينى CTNS مسح للطفرات الجينية لجين |
| 260 |
_aCairo : _bNoha Abdelhalim Radwan , _c2016 |
||
| 300 |
_a132 P. : _bfacsimiles ; _c25cm |
||
| 502 | _aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology | ||
| 520 | _aBackground: Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood. The molecular basis is due to mutations in lysosomal cystine transporter Gene, CTNS gene, which encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Aim of the work: Mutation scanning of the coding exons of CTNS gene (exon 3 to exon 12). Subjects and methods: CTNS gene was scanned for mutations in 24 Nephropathic Cystinosis patients using High resolution melting analysis (by Real-Time PCR) followed by mutation confirmation using sanger sequencing. Results: CTNS gene mutations were detected in 17 out of 24 nephropathic cystinosis patients (71%). Exon 10 was the most frequent exon harbouring mutations. 13 patients (54.2%) had mutations in exon 10: c.809_811delCCT small deletion (33.3%), c.828_829insA 16.7% and c.734G>A 4.2% | ||
| 530 | _aIssued also as CD | ||
| 653 | 4 | _aCTNS | |
| 653 | 4 | _aESKD | |
| 653 | 4 | _aNephropathic cystinosis | |
| 700 | 0 |
_aAmaal Abdo Abdelal , _eSupervisor |
|
| 700 | 0 |
_aNeveen Abdelmonem Soliman , _eSupervisor |
|
| 700 | 0 |
_aOla Abdel Monem El Sisi , _eSupervisor |
|
| 856 | _uhttp://172.23.153.220/th.pdf | ||
| 905 |
_aNazla _eRevisor |
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| 905 |
_aSamia _eCataloger |
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| 942 |
_2ddc _cTH |
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| 999 |
_c62983 _d62983 |
||