Results 31 to 40 of about 883 (159)
Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular arteries and resultant arterial stenosis.
Fatma Dursun +6 more
doaj +1 more source
Two newborn babies with generalized arterial calcification of infancy, two new mutations
Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric ...
Hacer Yapıcıoğlu-Yıldızdaş +8 more
doaj +1 more source
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report
Background Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene.
Iole Brunod +5 more
doaj +1 more source
Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. [PDF]
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder caused by mutations in the ENPP1 gene, manifests with extensive mineralization of the cardiovascular system. The affected individuals in most cases die within the first
Qiaoli Li +6 more
doaj +1 more source
Arterial disease: promising protein replacement therapy in inherited disorder A protein replacement therapy may prove useful in tackling calcification and narrowing of the arteries in babies with a severe genetic disorder.
Yvonne Nitschke +5 more
doaj +1 more source
An in‐situ spacer‐cation construction strategy is developed by inducing strong hydrogen bonding between n‐hexyl phosphonic acid (HPA) and FA+, forming a stable N‐type 2D/3D perovskite heterostructure. This approach suppressed defect formation, promoted electron transport, and improved intrinsic stability, delivering 26.32% PCE, excellent operational ...
Min Liu +10 more
wiley +1 more source
Nucleic Acids as Emerging Regulators of Calcium Phosphate Biomineralization
Calcium phosphate biomineralization has traditionally been considered a protein‐regulated process. This review highlights the emerging role of nucleic acids, which interact with mineral phases through adsorption, coprecipitation, and templating, thereby influencing crystal nucleation and growth.
Fanny Duhalde +2 more
wiley +1 more source
Denying the Darkness: Exploring the Discourses of Neutralization of Bundy, Gacy, and Dahmer [PDF]
This exploratory study analyzed how three serial killers (i.e., Bundy, Gacy, and Dahmer) potentially rationalized and justified their murders by applying techniques of neutralization. This paper discusses how the use of these neutralizations also functions as a form of stigma management assisting in the maintenance of a positive presentation of self ...
openaire +2 more sources
Abstract This study develops a novel framework within the Weather Research and Forecast Model for modeling aerosol‐cloud‐lightning interactions. The framework explicitly represent aerosol‐cloud interactions by prescribing aerosols with two configurations: an idealized setup, where both cloud condensation nuclei (CCN) and ice nucleating particles (IN ...
Weishan Wang +6 more
wiley +1 more source
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was originally reported as a responsible gene for generalized arterial calcification in infancy (GACI).
Kentaro Miyai +5 more
doaj +1 more source

