Missense mutation - Open Access .click

Results 251 to 260 of about 1,702,970 (343)

Genome‐Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology

Movement Disorders, EarlyView.
Abstract Background Recessive genetic variation and extended runs of homozygosity (ROHs) may contribute to the unexplained heritability of Parkinson's disease (PD), particularly in diverse and understudied populations. Objective We conducted the first large‐scale, multi‐ancestral investigation of PD to examine the impact of genome‐wide homozygosity on ...
Kathryn Step +680 more
wiley +1 more source

Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families. [PDF]

Ann Hematol
Amri Y +7 more
europepmc +1 more source

Increased Serum Neurofilament Light Chain Levels in Parkinson's Disease Patients Carrying the p.A53T SNCA Mutation: Data from the Parkinson's Progression Markers Initiative Study

Movement Disorders, EarlyView.
Abstract Background Serum neurofilament light chain (NfL) levels, a marker of axonal damage, are generally elevated in neurodegenerative conditions, but results in idiopathic Parkinson's disease (iPD) have been inconsistent. The p.A53T SNCA mutation usually leads to a severe form of PD.
Nikolaos Papagiannakis +213 more
wiley +1 more source

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
europepmc +1 more source

A missense mutation in the γD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q [PDF]

, 2004
Andley, Usha P, Mackay, Donna S, Shiels, Alan +2 more
core +1 more source

Case Report: <i>De novo USP9X</i> missense mutation in a male fetus with pulmonary atresia and ventricular septal defect: expanding the genotype-phenotype spectrum of <i>USP9X</i>-related disorders. [PDF]

Front Cardiovasc Med
Man T, Sun H, Hao X, Liu X, He Y.
europepmc +1 more source

A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.

J Clin Endocrinol Metab
Weng R +7 more
europepmc +1 more source

Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation. [PDF]

Cureus
Faraz S +4 more
europepmc +1 more source

Smart Integration of Structural Biology and Medicinal Chemistry to Unlock Target‐Driven Drug Discovery

Medicinal Research Reviews, EarlyView.
ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano +4 more
wiley +1 more source

medicine
biology
humans

mutation, missense
3. good health
female

mutation
male
phenotype