Association of abcc8 and insulin gene mutations with diabetes mellitus in Egyptian neonates and infants in the first year of life / (Record no. 60524)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02713cam a2200349 a 4500 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | EG-GiCUC |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250223031712.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 170403s2016 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.Ra.A |
| 100 0# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Rasha Mohamed Helmy Osman Elkaffas |
| 245 10 - TITLE STATEMENT | |
| Title | Association of abcc8 and insulin gene mutations with diabetes mellitus in Egyptian neonates and infants in the first year of life / |
| Statement of responsibility, etc. | Rasha Mohamed Helmy Osman Elkaffas ; Supervised Badawy Mohamad Alkholy , Mona Foad Hafez , Hanan Ali Madani |
| 246 15 - VARYING FORM OF TITLE | |
| Title proper/short title | ارتباط طفرات جينى ال اب س س٨ و الانسولين و مرض البول السكرى فى حديثى الولادة و الاطفال المصريين فى عامهم الاول |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Cairo : |
| Name of publisher, distributor, etc. | Rasha Mohamed Helmy Osman Elkaffas , |
| Date of publication, distribution, etc. | 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 153 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. | Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. Mutations in the genes encoding the ATP-sensitive potassium channel [(potassium inwardly rectifying channel, subfamily J, member11 (KCNJ11) and ATP-binding cassette transporter subfamily C, member 8 (ABCC8)] and the insulin (INS) genes are the commonest causes of the NDM. The identification of these mutations by genetic test»ing is critical for appropriate management and to guide genetic counseling. This study aimed to determine ABCC8 and IN genes mutations in a group of Egyptian diabetic neonates and infants under the age of 1 year and to determine other candidate genetic causes of NDM according to the patient{u2019}s clinical phenotype. DNA sequencing of the coding regions and intronic boundaries of ABCC8 and INS genes was done in 25 patients. Further candidate genes sequencing according to the clinical phenotype was done. Two patients (10%) had three ABCC8 mutations in the form of a compound heterozygous (p.N131K/p.R598*) in one patient and a homozygous (p.R1554Q) in the other patient |
| 530 ## - ADDITIONAL PHYSICAL FORM AVAILABLE NOTE | |
| Additional physical form available note | Issued also as CD |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | ABCC8 |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Diabetes mellitus |
| 653 #4 - INDEX TERM--UNCONTROLLED | |
| Uncontrolled term | Insulin gene mutations |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Badawy Mohamad Alkholy , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanan Ali Madani , |
| Relator term | |
| 700 0# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mona Foad Hafez , |
| 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.Ra.A | 01010110071437000 | 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.Ra.A | 01020110071437000 | 22.09.2023 | CD - Rom | 71437.CD |