Results 111 to 120 of about 239,120 (310)

PAX6 mutations: genotype-phenotype correlations [PDF]

, 2005
BACKGROUND: The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye
Hanson, Isabel M, Tzoulaki, Ioanna, White, Ian MS   +2 more
core   +3 more sources

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

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BMC Medical Genetics, 2017
Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung   +7 more
doaj   +1 more source

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  

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]

, 2007
More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Annette Grüters, Buono, Christian Pitra, Claudia Stäubert, Cone, Haitina, Harald Brumm, Heike Biebermann, Hinney, Holger Römpler, Huszar, Jacobson, Kim, Larsen, Lubrano-Berthelier, Mergen, Patrick Tarnow, Ringholm, Salomon, Sangkuhl, Schioth, Schoneberg, Schoneberg, Schulz, Talbot, Tao, Tao, Tarnow, Thomas Gudermann, Torsten Schöneberg, Vaisse, VanLeeuwen, Xiang, Yeo, Yeo   +34 more
core   +1 more source

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, EarlyView.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

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  

A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease [PDF]

, 2015
Missense/nonsense mutations and micro-deletions/micro-insertions of
Aguilera, Bacolla, Bacolla, Bacolla, Bacolla, Bacolla, Ball, Belotserkovskii, Bharti, Biffi, Bochman, Boyer, Brooks, Bzymek, Cebrián, Chen, Chen, Chuzhanova, Clark, Cooper, Cooper, Cooper, De, Ding, Dong, Du, Fleming, Greenblatt, Guo, Gusev, Iyer, Jain, Jain, Javadekar, Jeitany, Kaushik Tiwari, Kondrashov, Kouzine, Kregten, Kunkel, Kunkel, Kunkel, Lam, Lee, Levinson, León-Ortiz, Lopes, Lovett, Lu, Majumdar, Margolin, Morikawa, Mort, Mukherjee, Mukherjee, Murat, Nambiar, Patel, Raghavan, Reeves, Rosche, Rouleau, Sanders, Schofield, Sen, Sharma, Sinden, Sinden, Spurlock, Stenson, Stenson, Tappino, Vasquez, Verdin, Wang, Wells, Wickramasinghe, Williams, Wu, Wu, Wu, Wu, Yang, You, Zhao, Zhao, Zhou   +86 more
core   +1 more source