Results 71 to 80 of about 151,372 (221)
Codon Bias and Mutability in HIV Sequences [PDF]
arXiv, 1997 A survey of the patterns of synonymous codon preferences in the HIV env gene reveals a relation between the codon bias and the mutability requirements in different regions in the protein. At hypervariable regions in $gp120$, one finds a greater proportion of codons that tend to mutate non-synonymously, but to a target that is similar in hydrophobicity ...
arxiv
Suppressors of a UGG missense mutation in Escherichia coli [PDF]
Journal of Bacteriology, 1980 As part of our investigation of tRNA structure-function relationships, we isolated and preliminarily characterized translational suppressors of the tryptophan codon UGG in a trpA missense mutant of Escherichia coli. the parent strain also contained two other mutant alleles relevant to the suppressor search; these were supD, which codes for a serine ...
E J Murgola, J R Childress
openaire +3 more sources
Structural Investigations into Shwachman Bodian Diamond Syndrome SBDS using a Bioinformatics Approach [PDF]
InterJRI Science and Technology, Volume 1, pp 83-90, 2009, 2010 The functional correlation of missense mutations which cause disease remains a challenge to understanding the basis of genetic diseases. This is particularly true for proteins related to diseases for which there are no available three dimensional structures.
arxiv
HereditasBackground Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu +6 more
doaj +1 more source
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Case Reports in Genetics, 2017 Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen +5 more
doaj +1 more source
Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human Disease [PDF]
arXiv, 2017 Amino-acid substitutions are implicated in a wide range of human diseases, many of which are lethal. Distinguishing such mutations from polymorphisms without significant effect on human health is a necessary step in understanding the etiology of such diseases.
arxiv
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation [PDF]
Brain. 2020 Dec 5;143(11):3242-3261Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal, and cervical involvement.
arxiv +1 more source
Pakistan Armed Forces Medical Journal, 2018 Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz +4 more
doaj
The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma
BMC Cancer, 2017 Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura +9 more
doaj +1 more source
Clinical Characteristics of Subjects with a Missense Mutation in Glucokinase
Diabetic Medicine, 1995 The clinical characteristics of subjects with a missense glucokinase mutation, gly299→arg, were studied in a large pedigree, BX, initially characterized by some members having Maturity Onset Diabetes of the Young (MODY). Glucose tolerance, beta cell function and insulin sensitivity were measured with Homeostasis Model Assessment (HOMA) and with a ...
Page, R +9 more
openaire +3 more sources