The effects of alleles in many genes are believed to contribute to common complex diseases such as hypertension. Whether risk alleles comprise a small number of common variants or many rare independent mutations at trait loci is largely unknown. We screened members of the Framingham Heart Study (...
During the last decade, large-scale sequencing efforts have greatly enabled the analysis of somatic mutations in tumor genomes, both via whole-exome8and whole-genome sequencing, either from primary9or metastatic tumors10. These studies have identified driver genes and mutations4,11,12,13and also ...
Somatic mutations inDROSHAare frequently found in Wilms’ tumor. These mutations, occurring in the RNase IIIb domain of DROSHA, disrupt metal ion binding and endonuclease activity, leading to the reduced level of several miRNAs, including the tumor suppressor let-7 family. Wilms’ tumor has been ...
in the animals, in order to establish such molecular and cellular functions underlying human diseases. Unfortunately, very often such operations did not yield the same or even similar phenotypes in humans carrying the same mutations, posing great difficulty in utilizing such vehicles for studying ...
In conclusion, we report pathogenic LIPT1 gene mutations in humans, which alter lipoate binding in PDHc and α-KGDHc, and we provide strong evidence for the existence of a lipoylation pathway specific to PDHc and α-KGDHc in humans. This pathway is at least partly distinct from the de no...
关键词: Humans Ovarian Neoplasms Tumor Suppressor Proteins Nuclear Proteins Prevalence Polymerase Chain Reaction Base Sequence Nucleic Acid Denaturation Exons Molecular Sequence Data DOI: 10.1111/j.1399-0004.2011.01824.x 被引量: 29 年份: 2012
Discusses a rare genetic mutations that shed light on the pathogenesis of Parkinson disease (PD). Familial-linked of PD genes; Structure of a-synuclein and a model of &alpha-synuclein aggregation and toxicity; Structure of parkin and a model of parkin-mediated ubiquitination and its substrates.关...
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammationScience10.1126/science.aar2641 Cuchet-Lourenco, D., Eletto, D., Wu, C., Plagnol, V., Papapietro, O., Curtis, J.et al. (2018) . 361, 810–813 Google Scholar 69. Human RIPK1 deficiency...
Rare transmitted damaging variants are enriched within specific regions of Chromosome X in males with ASD Given replicated evidence for the contribution of transmitted LGD mutations on Chr X, but not for missense or damaging mutations as a group, we reasoned that strategies similar to those employed...
OPEN Citation: Transl Psychiatry (2016) 6, e764; doi:10.1038/tp.2016.30 www.nature.com/tp ORIGINAL ARTICLE Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways C Cappi1, H Brentani1, L Lima1, SJ Sanders2, G Zai3, ...