Missense Mutations - Toxicology

Relevant Publications

Clinical and Genomic Profile of Primary Cranial Neurolymphomatosis.

Issue Release: 2024

Unusual Voltage-Gated Sodium and Potassium Channelopathies Related to Epilepsy.

Issue Release: 2024

A force-sensitive mutation reveals a non-canonical role for dynein in anaphase progression.

Issue Release: 2024

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Issue Release: 2024

Redefining aberrant P53 expression of gastric cancer and its distinct clinical significance among molecular-histologic subtypes.

Issue Release: 2024

High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.

Issue Release: 2024

Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

Issue Release: 2024

Cancer-associated Histone H3 N-terminal arginine mutations disrupt PRC2 activity and impair differentiation.

Issue Release: 2024

Molecular insights into TP53 mutation (p. Arg267Trp) and its connection to Choroid Plexus Carcinomas and Li-Fraumeni Syndrome.

Issue Release: 2024

Targeted analysis of Ubiquitin-Specific Peptidase (USP8) in a population of Iranian people with Cushing\'s disease and a systematic review of the literature.

Issue Release: 2024

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.

Issue Release: 2024

Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.

Issue Release: 2024

[ germline mutation-associated pheochromocytoma-paraganglioma syndrome: multiple endocrine neoplasia type 5].

Issue Release: 2024

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.

Issue Release: 2024

Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of in Chinese Patients with Familial Amyotrophic Lateral Sclerosis.

Issue Release: 2024

Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel variation from a family with consanguineous marriage.

Issue Release: 2024

TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR.

Issue Release: 2024

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.

Issue Release: 2024

Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys.

Issue Release: 2024

An atomistic model of myosin interacting heads motif dynamics and their modification by 2\'-deoxy-ADP.

Issue Release: 2024

What Are the Toxicological Effects of Angiotensin II?

When is Enhanced Elimination Indicated?

What Role do Trade Secrets Play in Regulatory Submissions?

What Are the Benefits Over Traditional Medications?

How Does Carbon Monoxide Cause Asphyxiation?

How is CFH Related to Genetic Susceptibility?

What Are the Future Trends in Sustainable Product Design?

What is Automated Imaging in Toxicology?

What Role Does Epigenetics Play in Developmental Toxicology?

How Does Smoking Affect Pregnancy?

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