ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong+16 more
wiley +1 more source
446 High Frequency of Low Severity Disabilities in Very Premature Infants at Age Five [PDF]
E S Potharst-Sirag+5 more
openalex +1 more source
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier+7 more
wiley +1 more source
Plant-based, fast-food, Western-contemporary, and animal-based dietary patterns and risk of premature aging in adult survivors of childhood cancer: a cross-sectional study. [PDF]
Lan T+12 more
europepmc +1 more source
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo+4 more
wiley +1 more source
Author Correction: Premature aging effects on COVID-19 pathogenesis: new insights from mouse models. [PDF]
Haoyu W+14 more
europepmc +1 more source
A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone+11 more
wiley +1 more source
Enhancing Cellular Homeostasis: Targeted Botanical Compounds Boost Cellular Health Functions in Normal and Premature Aging Fibroblasts. [PDF]
Hartinger R+3 more
europepmc +1 more source
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz+3 more
wiley +1 more source