Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. [PDF]
PLoS ONE, 2017 PurposeAutosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 Belgian probands with possible adRP underwent genetic testing to unravel the
Caroline Van Cauwenbergh +14 more
doaj +4 more sources
Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation [PDF]
Frontiers in Oncology, 2023 Family history is an established risk factor for lung cancer. Previous studies have found that germline genetic alterations, such as those in EGFR, BRCA1, BRCA2, CHEK2, CDKN2A, HER2, MET, NBN, PARK2, RET, TERT, TP53, and YAP1, are associated with an ...
Lili Liu +4 more
doaj +2 more sources
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II [PDF]
Molecular Genetics & Genomic MedicineObjective To explore the molecular etiology of Waardenburg syndrome type II (WS2) in a family from Yunnan province, China. Methods A total of 406 genes related to hereditary hearing loss were sequenced using next‐generation sequencing.
Xiuli Ma +5 more
doaj +2 more sources
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome [PDF]
Molecular Genetics and Metabolism ReportsBackground: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3 on chromosome 10p14.
Bo Huang +8 more
doaj +2 more sources
Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature [PDF]
International Journal of Ophthalmology, 2023 AIM: To detect the pathogenic gene variant in a family with neurofibromatosis type 1 (NF1). METHODS: This patient with NF1 was sequenced using target sequence capture and high-throughput sequencing technology.
Xiao-Hui Guo +3 more
doaj +1 more source
Germline Mutations for Kidney Volume in ADPKD
Kidney International Reports, 2022 Introduction: Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking.
Hiroshi Kataoka +12 more
doaj +1 more source
eLife, 2023 Multiple genetic changes in the enteric pathogen Yersinia pseudotuberculosis have driven the emergence of Yesinia pestis, the arthropod-borne, etiological agent of plague.
Xiao-Peng Guo +6 more
doaj +1 more source
Escherichia coli frameshift mutation rate depends on the chromosomal context but not on the GATC content near the mutation site. [PDF]
PLoS ONE, 2012 Different studies have suggested that mutation rate varies at different positions in the genome. In this work we analyzed if the chromosomal context and/or the presence of GATC sites can affect the frameshift mutation rate in the Escherichia coli genome.
Mariana A Martina +3 more
doaj +1 more source
Adaptive amplification and point mutation are independent mechanisms: evidence for various stress-inducible mutation mechanisms. [PDF]
PLoS Biology, 2004 "Adaptive mutation" denotes a collection of processes in which cells respond to growth-limiting environments by producing compensatory mutants that grow well, apparently violating fundamental principles of evolution.
P J Hastings +3 more
doaj +1 more source
Stem Cell Research, 2023 Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase.
Chloe Christensen +5 more
doaj +1 more source