Results 241 to 250 of about 239,120 (310)

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

Editorial: Functional study of novel VUS (variant of uncertain significance) mutations in single-gene inherited disease. [PDF]

Front Genet
Yang G, Zhong H, Wen H, Shen Y.
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

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation. [PDF]

Genes (Basel)
Luppino G, Wasniewska M, Giordano M, Pepe G, Morabito LA, Porri D, Aversa T, Corica D.   +7 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 compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome. [PDF]

J Ovarian Res
Wang X, Liu Y, Yuan G, Yang J, Liu X, Chen S, Dou H, Lu P, Han L, Li D, Hao C.   +10 more
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

Clinical impact of TP53 functional mutations in patients with metastatic colorectal cancer treated with bevacizumab and chemotherapy. [PDF]

Oncologist
Ruzzo A, Graziano F, Palladino S, Fischer NW, Catalano V, Giordani P, Malkin D, Tamburrano T, Patriti A, Petrelli F, Sarti D, Chiari R.   +11 more
europepmc   +1 more source