Mutation scanning of CTNS gene in nephropathic cystinosis / (Record no. 62983)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02632cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031826.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 171016s2016 ua h f m 000 0 eng d |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | EG-GiCUC |
| Language of cataloging | eng |
| Transcribing agency | EG-GiCUC |
| 041 0# - LANGUAGE CODE | |
| Language code of text/sound track or separate title | eng |
| 049 ## - LOCAL HOLDINGS (OCLC) | |
| Holding library | Deposite |
| 097 ## - Thesis Degree | |
| Thesis Level | Ph.D |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) | |
| Classification number | Cai01.11.07.Ph.D.2016.No.M |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Noha Abdelhalim Radwan |
| 245 10 - TITLE STATEMENT | |
| Title | Mutation scanning of CTNS gene in nephropathic cystinosis / |
| Statement of responsibility, etc. | Noha Abdelhalim Radwan ; Supervised Ola Abdel Monem Elsisi , Neveen Abdelmonem Soliman , Amaal Abdo Abdelal |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | المسبب لداء اعتلال الكلية السيستينى CTNS مسح للطفرات الجينية لجين |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Noha Abdelhalim Radwan , |
| Date of publication, distribution, etc. | 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 132 P. : |
| Other physical details | facsimiles ; |
| Dimensions | 25cm |
| 502 ## - DISSERTATION NOTE | |
| Dissertation note | Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Background: 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 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | CTNS |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | ESKD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Nephropathic cystinosis |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amaal Abdo Abdelal , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neveen Abdelmonem Soliman , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ola Abdel Monem El Sisi , |
| Relator term | |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="http://172.23.153.220/th.pdf">http://172.23.153.220/th.pdf</a> |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Nazla |
| Reviser | Revisor |
| 905 ## - LOCAL DATA ELEMENT E, LDE (RLIN) | |
| Cataloger | Samia |
| Reviser | Cataloger |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | Dewey Decimal Classification |
| Koha item type | Thesis |
| Source of classification or shelving scheme | Not for loan | Home library | Current library | Date acquired | Full call number | Barcode | Date last seen | Koha item type | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | قاعة الرسائل الجامعية - الدور الاول | 11.02.2024 | Cai01.11.07.Ph.D.2016.No.M | 01010110073101000 | 22.09.2023 | Thesis | ||
| Dewey Decimal Classification | المكتبة المركزبة الجديدة - جامعة القاهرة | مخـــزن الرســائل الجـــامعية - البدروم | 11.02.2024 | Cai01.11.07.Ph.D.2016.No.M | 01020110073101000 | 22.09.2023 | CD - Rom | 73101.CD |