کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1998216 | 1065764 | 2014 | 43 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
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کلمات کلیدی
PCK1BSPNMDAN-methyl d-aspartateμMECHOCGHEC50nAMDOAAGAPDHPDBRMSDKClPEPCK-MDMEMGTPHEPESNaClPEPCK-CIPTGDTTRAI14-(2-hydroxyethyl)-1-piperazineethanesulfonic acid - 4- (2-hydroxyethyl) -1-piperazineethanesulfonic acidDulbecco's modified Eagle Medium - Eagle Medium اصلاح شده Dulbeccoguanosine-5′-triphosphate - guanosine-5'-triphosphateKcat - KCAToxaloacetic acid - اسید اسکالوزیکLactic acidemia - اسید لاکتیکElectroencephalogram - الکتروانسفالوگرافیpolyacrylamide gel electrophoresis in sodium dodecyl sulfate - الکتروفورز ژل پلی آکریل آمید در سدیم داودسیل سولفاتechocardiogram - اکوکاردیوگرامisopropyl β-D-1-thiogalactopyranoside - ایزوپروپیل β-D-1-thiogalactopyranosidedevelopmental delay - تاخیر رشدcomparative genomic hybridization - ترکیب هیبریداسیون ژنومی مقایسه شدهdithiothreitol - دیتیوتریتولDysmorphism - ریزش موroot-mean-square-deviation - ریشه متوسط-مربع انحرافProtein structure-function - ساختار تابع پروتئینSodium chloride - سدیم کلریدSmith–Magenis syndrome - سندرم اسمیت-مگنیسphosphoenolpyruvate carboxykinase 1 - فسفوآنولپیروبات کربوکسیکیناز 1millimolar - میلی آمپرmicromolar - میکرومولارEEG - نوار مغزیwild type - نوع وحشیhalf maximal effective concentration - نیمه حداکثر غلظت موثرhypoglycemia - هیپوگلایسمی Protein Data Bank - پروتئین بانک اطلاعاتیSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSMS - پیامکSNP - چندریختی تک-نوکلئوتیدoptical density - چگالی نوریCoot - کتPotassium chloride - کلرید پتاسیمglyceraldehyde-3-phosphate dehydrogenase - گلیسرالیدید-3-فسفات دهیدروژناز
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity](/preview/png/1998216.png)
چکیده انگلیسی
The National Institutes of Health Undiagnosed Diseases Program evaluates patients for whom no diagnosis has been discovered despite a comprehensive diagnostic workup. Failure to diagnose a condition may arise from the mutation of genes previously unassociated with disease. However, we hypothesized that this could also co-occur with multiple genetic disorders. Demonstrating a complex syndrome caused by multiple disorders, we report two siblings manifesting both similar and disparate signs and symptoms. They shared a history of episodes of hypoglycemia and lactic acidosis, but had differing exam findings and developmental courses. Clinical acumen and exome sequencing combined with biochemical and functional studies identified three genetic conditions. One sibling had Smith-Magenis Syndrome and a nonsense mutation in the RAI1 gene. The second sibling had a de novo mutation in GRIN2B, which resulted in markedly reduced glutamate potency of the encoded receptor. Both siblings had a protein-destabilizing homozygous mutation in PCK1, which encodes the cytosolic isoform of phosphoenolpyruvate carboxykinase (PEPCK-C). In summary, we present the first clinically-characterized mutation of PCK1 and demonstrate that complex medical disorders can represent the co-occurrence of multiple diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 113, Issue 3, November 2014, Pages 161-170
Journal: Molecular Genetics and Metabolism - Volume 113, Issue 3, November 2014, Pages 161-170
نویسندگان
David R. Adams, Hongjie Yuan, Todd Holyoak, Katrina H. Arajs, Parvin Hakimi, Thomas C. Markello, Lynne A. Wolfe, Thierry Vilboux, Barbara K. Burton, Karin Fuentes Fajardo, George Grahame, Conisha Holloman, Murat Sincan, Ann C.M. Smith, Gordon A. Wells,