Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients
المؤلفون المشاركون
Ayuso, Carmen
Kamenarova, Kunka
Corton, Marta
García-Sandoval, Blanca
Fernández-San Jose, Patricia
Panchev, Valentin
Ávila-Fernández, Almudena
López-Molina, Maria Isabel
Chakarova, Christina
Bhattacharya, Shomi S.
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-15، 15ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-08-14
دولة النشر
مصر
عدد الصفحات
15
التخصصات الرئيسية
الملخص EN
Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1) mutations identified in unrelated Spanish families affected by autosomal dominant retinal degeneration (adRD) with cone and rod involvement.
All patients from a three-generation adRD pedigree underwent detailed ophthalmic evaluation.
Total genome scan using single-nucleotide polymorphisms and then the linkage analysis were undertaken on the pedigree.
Haplotype analysis revealed a 55.37 Mb genomic interval cosegregating with the disease phenotype on chromosome 6p21.31-q15.
Mutation screening of positional candidate genes found a heterozygous transition c.250C>T in exon 4 of GUCA1A, corresponding to a novel mutation p.L84F.
A second missense mutation, c.320T>C (p.I107T), was detected by screening of the gene in a Spanish patients cohort.
Using bioinformatics approach, we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the disease due to c.250C>T and c.320T>C.
Although additional functional studies are required, our data in relation to the c.250C>T mutation open the possibility that transacting factors binding to de novo created recognition site resulting in formation of aberrant splicing variant is a disease model which may be more widespread than previously recognized as a mechanism causing inherited RD.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kamenarova, Kunka& Corton, Marta& García-Sandoval, Blanca& Fernández-San Jose, Patricia& Panchev, Valentin& Ávila-Fernández, Almudena…[et al.]. 2013. Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients. BioMed Research International،Vol. 2013, no. 2013, pp.1-15.
https://search.emarefa.net/detail/BIM-1030617
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kamenarova, Kunka…[et al.]. Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients. BioMed Research International No. 2013 (2013), pp.1-15.
https://search.emarefa.net/detail/BIM-1030617
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kamenarova, Kunka& Corton, Marta& García-Sandoval, Blanca& Fernández-San Jose, Patricia& Panchev, Valentin& Ávila-Fernández, Almudena…[et al.]. Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-15.
https://search.emarefa.net/detail/BIM-1030617
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1030617
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر