Results 251 to 260 of about 241,061 (333)

Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene [PDF]

, 1997
Maurice A. M. Van Steensel, Pieter Buma, M.C. de Waal Malefijt, F.H.J. van den Hoogen, Han G. Brunner   +4 more
openalex   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4. [PDF]

Front Psychiatry
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N.   +11 more
europepmc   +1 more source

Abrupt and Severe Onset of Dystonia, Chorea and Hemiplegic Episodes in a Young Boy with a Novel Heterozygous Missense Variant in the GTPase Domain of RHOBTB2

Movement Disorders Clinical Practice, EarlyView.
Phuong T. Hoang, Ian O. Bledsoe, Marta San Luciano   +2 more
wiley   +1 more source

Plasticity of Gene Expression in Spaceflight and Postflight in Relation to Cardiovascular Disease: Mechanisms and Candidate Repurposed Drugs

PROTEOMICS, EarlyView.
ABSTRACT Spaceflight poses unique challenges to human health due to exposure to increased levels of cosmic radiation, microgravity, and associated oxidative stress. These environmental factors can lead to cellular damage, inflammation, and a range of health complications, including cardiovascular problems, immune system impairment, and an increased ...
Marilena M. Bourdakou, Eleni M. Loizidou, George M. Spyrou   +2 more
wiley   +1 more source

A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons. [PDF]

Stem Cells
Carter JL, Halmai JANM, Waldo JJ, Vij PA, Anguiano M, Villegas IJ, Du YX, Nolta J, Fink KD.   +8 more
europepmc   +1 more source

Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival

Movement Disorders Clinical Practice, EarlyView.
Silvestre Cuinat, Christèle Dubourg, Gaël Nicolas, Jean‐Madeleine de Sainte Agathe, Sylvie Odent, Laurent Pasquier, Audrey Riou   +6 more
wiley   +1 more source

Bioinformatics‐Based Comparative Analysis of the Human Retina Proteome

PROTEOMICS – Clinical Applications, EarlyView.
ABSTRACT Introduction The human retina relies on a complex network of proteins, many of which exhibit intrinsic disorder and liquid‐liquid phase separation (LLPS), enabling dynamic interactions for retinal function. Disruptions in these properties, along with missense mutations, have been linked to retinal diseases.
Colin K. Kim, Mak B. Djulbegovic, David Broytman, Nedym Hadzijahic, Michael Antonietti, David J. Taylor Gonzalez, Vladimir N. Uversky, Nicolas A. Yannuzzi, Carol L. Karp   +8 more
wiley   +1 more source

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source

Microglial Drivers of Alzheimer's Disease Pathology: An Evolution of Diverse Participating States

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Microglia, the resident immune‐competent cells of the brain, become dysfunctional in Alzheimer's disease (AD), and their aberrant immune responses contribute to the accumulation of pathological proteins and neuronal injury. Genetic studies implicate microglia in the development of AD, prompting interest in developing immunomodulatory therapies
Madison K. Kuhn, Elizabeth A. Proctor
wiley   +1 more source