Identification of a mutation in a Vietnamese family with autosomal dominant polycystic kidney disease using whole exome sequencing

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

Exon Sequencing of PKD1 Gene in an Iranian Patient with Autosomal-Dominant Polycystic Kidney Disease

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene. Genetic studies have demonstrate...

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease

Author’s response to reviews Title: Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection Authors:

Thank the editor and reviewers for these precious comments concerning my manuscript entitled "Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection" (MGTC-D-17-00066R1). These comments are all valuable and very helpful for revising and improving my paper, as well as the important guiding significa...

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...