Results 31 to 40 of about 173,392,339 (131)

Prenatal Ultrasonographic Diagnosis of Generalized Arterial Calcification of Infancy

Journal of Clinical Ultrasound, 2015
A healthy 19-year-old nulliparous pregnant woman was referred to our clinic because of fetal pericardial effusion and ascites. The sonographic examination performed at 28 weeks' gestation revealed scalp edema, severe skin edema, bilateral hydrocele ...
Has, Recep, Yuksel, Atil, Gulluoglu, Mine, Omeroglu, Rukiye Eker, Kalelioglu, Ibrahim, Kayserili, Hulya, Corbacioglu Esmer, Aytul   +6 more
core   +3 more sources

Generalized arterial calcification of infancy: Fatal clinical course associated with a novel mutation in ENPP1 [PDF]

, 2011
Generalized arterial calcification of infancy(GACI) is a rare condition characterized by arterial calcificationwithin the internal elastic lamina associated with intimalproliferation, leading to stenosis of great and medium-sizedvessels.
Galletti S., Nitschke Y., Malavolti A. M., Faldella G., Rutsch F., Aquilano G., Corvaglia L.   +6 more
core   +4 more sources

Generalized arterial calcification of infancy: different clinical courses in two affected siblings

American Journal of Medical Genetics Part A, 2005
Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disease caused by mutations in ENPP1. Due to extensive calcification of the arterial media associated with intimai proliferation leading to vascular occlusion, most ...
Ruf, N., Cheng, K.S., Lin, S.P., Chen, M.R., Rutsch, F.   +4 more
core   +3 more sources

Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. [PDF]

PLoS ONE, 2014
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, C Herbert Pratt, Louise A Dionne, Heather Fairfield, Son Yong Karst, John P Sundberg, Jouni Uitto   +6 more
doaj   +2 more sources

Generalized Arterial Calcification of Infancy. [PDF]

Radiol Cardiothorac Imaging, 2020
Generalized arterial calcification of infancy (GACI) is a rare genetic disease that affects the circulatory system and the large- and medium-sized arteries throughout the body. GACI usually occurs during fetal development. Babies with GACI are diagnosed early, generally soon after birth and in some cases before birth by fetal ultrasound.
Donuru A, Kandula V, Oliver E, Saul D.
europepmc   +6 more sources

Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation. [PDF]

J Pers Med, 2023
Generalized arterial calcification of infancy (GACI) is a rare autosomal-recessive disease characterized by extensive arterial calcification in infancy, with clinical manifestations such as arterial stenoses and heart failure.
Yao R, Yang F, Zhang Q, Yu T, Yu Y, Chang G, Wang X.   +6 more
europepmc   +2 more sources

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations [PDF]

Frontiers in Genetics, 2013
The human ABCC6 gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines. We review here the mechanisms of this restricted tissue-specific expression and the role of hepatocyte ...
Tamás eArányi, Caroline eBacquet, Hugues ede Boussac, Marcin eRatajewski, Viola ePomozi, Krisztina eFülöp, Christopher N Brampton, Lukasz ePulaski, Olivier eLe Saux, András eVáradi   +9 more
doaj   +2 more sources

Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE)

Disease Models & Mechanisms, 2014
In recent years it has become clear that, mechanistically, biomineralization is a process that has to be actively inhibited as a default state. This inhibition must be released in a rigidly controlled manner in order for mineralization to occur in ...
Alexander Apschner, Leonie F. A. Huitema, Bas Ponsioen, Josi Peterson-Maduro, Stefan Schulte-Merker   +4 more
doaj   +2 more sources

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis [PDF]

Orphanet Journal of Rare Diseases
Background ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), or the ...
Marta Bertamino, David J. Goldberg, M. Zulf Mughal, Lisa Pabst, Yaping Joyce Liao, Lisa R. Sun, Jane Beckwell, Amina Kozaric, Ruth du Moulin, Katie Swanner, Carlos R. Ferreira, Shira G. Ziegler   +11 more
doaj   +2 more sources

Prenatal Presentation of ENPP1-Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype-Genotype Report. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 46, Issue 10, Page 1676-1679, September 2026.
Tekesin I, Kerst G, Chiaie LD, Dinwiddie A, Gabriel H.   +4 more
europepmc   +2 more sources