Results 1 to 10 of about 140,139 (75)

Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease [PDF]

Movement Disorders, 2023, 38 (9), pp.1756-1757, 2023
Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson disease.
arxiv   +1 more source

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment [PDF]

Brain - A Journal of Neurology , Oxford University Press (OUP), 2014, 137 (10), pp.2657-2663, 2020
Autosomal dominant cerebellar ataxia corresponds to a clinically and genetically heterogeneous group of neurodegenerative disorders that primarily affect the cerebellum. Here, we report the identification of the causative gene in spinocerebellar ataxia 21, an autosomal-dominant disorder previously mapped to chromosome 7p21.3-p15.1.
arxiv   +1 more source

Deciphering the Language of Nature: A transformer-based language model for deleterious mutations in proteins [PDF]

arXiv, 2021
Various machine-learning models, including deep neural network models, have already been developed to predict deleteriousness of missense (non-synonymous) mutations. Potential improvements to the current state of the art, however, may still benefit from a fresh look at the biological problem using more sophisticated self-adaptive machine-learning ...
arxiv  

Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene [PDF]

Human Genetics, July 16 2010, 2010
MYH9 has been proposed as a major genetic risk locus for a spectrum of non-diabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African specific missense mutations (S342G and I384M) in the neighbouring APOL1 gene, and demonstrate that these are more strongly associated with ...
arxiv   +1 more source

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals [PDF]

, 2020
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 protein in mouse brain at the tissue, cellular, and subcellular levels. Immunofluorescence labeling showed
arxiv   +1 more source

Predicting Pathogenicity Of nsSNPs Associated With Rb1 -- An In Silico Approach [PDF]

arXiv, 2023
Single nucleotide polymorphisms (SNPs) are variations at specific locations in DNA. Sequence responsible for marking genes associated with diseases or tracking inherited diseases within The family. These variations in the Rb1 gene can cause Retinoblastoma and cancer in the retina Of one eye or both, Osteosarcoma, Melanoma, Leukemias, Lungs, and Breast ...
arxiv  

FANCA: In-Silico deleterious mutation analysis for early prediction of leukemia [PDF]

arXiv, 2021
As a novel biomarker from the Fanconi anemia complementation group (FANC) family, FANCA is antigens to Leukemia cancer. The overexpression of FANCA has predicted the second most common cancer in the world that is responsible for cancer-related deaths.
arxiv  

White paper: The Helix Pathogenicity Prediction Platform [PDF]

arXiv, 2021
In this white paper we introduce Helix, an AI based solution for missense pathogenicity prediction. With recent advances in the sequencing of human genomes, massive amounts of genetic data have become available. This has shifted the burden of labor for genetic diagnostics and research from the gathering of data to its interpretation.
arxiv  

Long mutation cycles [PDF]

arXiv, 2023
A mutation cycle is a cycle in a graph whose vertices are labeled by the quivers in a given mutation class and whose edges correspond to single mutations. For any fixed $n\ge 4$, we describe arbitrarily long mutation cycles involving $n$-vertex quivers.
arxiv  

A Spatial Mutation Model with Increasing Mutation Rates [PDF]

arXiv, 2021
We consider a spatial model of cancer in which cells are points on the $d$-dimensional torus $\mathcal{T}=[0,L]^d$, and each cell with $k-1$ mutations acquires a $k$th mutation at rate $\mu_k$. We will assume that the mutation rates $\mu_k$ are increasing, and we find the asymptotic waiting time for the first cell to acquire $k$ mutations as the torus ...
arxiv