Kristina B. Kruse, Amy Dear, Erin Kaltenbrun, Brandan E. Crum, Peter M. George, Stephen O. Brennan, Ardythe A. McCracken,
... and develop liver cirrhosis. One such variant named Aguadilla has a substitution of Arg375 to Trp in ... the cellular mechanisms behind clearance of the aberrant Aguadilla γ-chain, we expressed the mutant γD domain ... we discovered that when ERAD was saturated, aggregated Aguadilla γD accumulated within the ER while a soluble ... targeted to the vacuole for degradation. Examination of Aguadilla γD in an autophagy-deficient yeast strain showed ... and develop liver cirrhosis. One such variant named Aguadilla has a substitution of Arg375 to Trp in ...
Tópico(s): Autophagy in Disease and Therapy
2006 - Elsevier BV | American Journal Of Pathology
Tsuyoshi Sogo, Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Takashi Miida, Francesco Callea, Paola Francalanci, Ken‐ichi Hirano, Hajime Kitamura, Toru Yorifuji, Tomoo Fujisawa,
... was confirmed by gene analysis, which revealed the Aguadilla mutation (Arg375Trp) in the fibrinogen γ-chain, described ... that the patient's father also had the Aguadilla mutation, and his mother and younger sister did ... pedigree with the fibrinogen gamma Arg375Trp mutation (fibrinogen Aguadilla). In α-1 antitrypsin deficiency, one of the ... describing Asian patients with the fibrinogen γ-chain Aguadilla mutation (Arg375Trp). Although advanced liver disease in adults ... I caused by the Brescia mutation (Gly284Arg) and Aguadilla mutation (Arg375Trp) in the fibrinogen γ-chain gene ...
Tópico(s): Hemoglobinopathies and Related Disorders
2009 - Lippincott Williams & Wilkins | Journal of Pediatric Gastroenterology and Nutrition
Francesco Callea, Isabella Giovannoni, Sinan Sarı, Esendagli Guldal, Buket Dalgıç, Gülen Akyol, Tsuyoshi Sogo, Abdulrahman Al‐Hussaini, Giuseppe Maggiore, Andrea Bartuli, Renata Boldrini, Paola Francalanci, Emanuele Bellacchio,
p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers, Al du Pont, Pisa, Beograd, and Ankara) causing hepatic storage of the mutant fibrinogen γ. The Aguadilla mutation has been reported in children from the ... child from Turkey with hypofibrinogenemia due to the Aguadilla mutation, massive hepatic storage of the mutant protein, ... Fibrinogen Storage Disease (FSD) patients with either the Aguadilla, Ankara, or Brescia mutations were investigated with the ... analysis revealed the fibrinogen gamma p.R375W mutation (Aguadilla) but no changes in the APOB and MTTP ...
Tópico(s): Lipid metabolism and disorders
2017 - Multidisciplinary Digital Publishing Institute | International Journal of Molecular Sciences
Alessandro Casini, Christiane Sokollik, Samuel W. Lukowski, Eberhard Lurz, Claudine Rieubland, Philippe de Moerloose, Marguerite Neerman‐Arbez,
... We studied a new Swiss family with fibrinogen Aguadilla. In order to understand the molecular peculiarity of FSD mutations, fibrinogen Aguadilla and the three other causative mutations, all located ... proband was found to be heterozygous for fibrinogen Aguadilla: FGG Arg375Trp. Familial screening revealed that her mother ... of backbone and side‐chain interactions for fibrinogen Aguadilla in a 10‐angstrom region revealed the loss ...
Tópico(s): Hemoglobinopathies and Related Disorders
2015 - Wiley | Haemophilia
... held at the University of Puerto Rico at Aguadilla Campus (UPR-Aguadilla) during the summer of 2015. This camp gave ... s influence on student enrollment at the UPR-Aguadilla. The impact was evaluated by using pre- and ... the camp influenced student enrollment at the UPR-Aguadilla. The camp survey results suggest that attendance to ... the enrollment of participating students at the UPR-Aguadilla.
Tópico(s): Experimental Learning in Engineering
2017 - Institute of Electrical and Electronics Engineers | IEEE Revista Iberoamericana de Tecnologias del Aprendizaje
... heterozygous for a FGG p.Arg375Trp mutation (fibrinogen Aguadilla). The patient was asymptomatic and only presented chronically ... fibrinogen concentrations; all three were heterozygous for the Aguadilla mutation. A liver biopsy performed on the elder ... Angers mutation, but also the fibrinogen Brescia and Aguadilla mutations, leads to impaired secretion, retention in the ... globular γD domain: the residue mutated in fibrinogen Aguadilla (Arg375) is also localized in the 'a' polymerization ...
Tópico(s): Erythrocyte Function and Pathophysiology
2007 - Elsevier BV | Journal of Thrombosis and Haemostasis
Abdulrahman Al‐Hussaini, Abdulhadi Altalhi, Imad El Hag, Hussa Alhussaini, Paola Francalanci, Isabella Giovannoni, Francesco Callea,
The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen. It has been ... fibrinogen genes revealed a γ375Arg → Trp mutation (fibrinogen Aguadilla) in the child and in her father. In ...
Tópico(s): Pancreatitis Pathology and Treatment
2014 - Medknow | Saudi Journal of Gastroenterology
Sinan Sarı, Güldal Yılmaz, Ipek I. Gonul, Buket Dalgıç, Gülen Akyol, Isabella Giovannoni, Paola Francalanci, Francesco Callea,
... Turkish family carrying the mutation p.Arg375Trp (fibrinogen Aguadilla) in the γ-chain of the fibrinogen (FGG) ... and one brother carried p.Arg375Trp mutation (fibrinogen Aguadilla) in FGG gene. The patient was treated with ... In addition, hypofibrinogenemia is associated with hypobetalipoproteinemia in Aguadilla mutation.
Tópico(s): Pancreatitis Pathology and Treatment
2015 - Wiley | Liver International
... about twenty rods from a ranch house near Aguadilla, furnished @set of three eggs, slightly incubated, June ... observed alike in the vicinity of San Juan, Aguadilla, and Mayaguez, and on the island of Vieques. ... family that I know.June 1, 1900;near Aguadilla, a pair were greatly disturbed by my approach ...
Tópico(s): Lepidoptera: Biology and Taxonomy
1903 - Oxford University Press | Ornithology
Giuseppe Maggiore, Silvia Nastasio, Marco Sciveres,
... 1) reported in this journal a case of aguadilla hepatic fibrinogen storage disease (HFSD) with considerable liver ... We thus decided to treat our patient with aguadilla HFSD with ursodeoxycholic acid 20 mg · kg−1 · ...
Tópico(s): Iron Metabolism and Disorders
2011 - Lippincott Williams & Wilkins | Journal of Pediatric Gastroenterology and Nutrition
Francesco Callea, Isabella Giovannoni, Sinan Sarı, Aysel Ünlüsoy Aksu, Guldal Esendagly, Buket Dalgıç, Renata Boldrini, Gülen Akyol, Paola Francalanci, Emanuele Bellacchio,
... six fibrinogen mutant variants, fibrinogen Brescia (p.Gly284Arg), Aguadilla (p.Arg375 Trp), Angers (del372-376), Al DuPont ( ... Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.Haemophilia. 2015; ... Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.Haemophilia. 2015; ...
Tópico(s): Blood properties and coagulation
2017 - Elsevier BV | Pathology
... result in floods (USGS 2007). Climate diagrams for Aguadilla and San Juan, which lie 75 km west ... viewerPowerPoint Map of Puerto Rico and location of Aguadilla (Ag), San Juan (SJ), and Manatí (Mn) climate ...
Tópico(s): Forest ecology and management
2011 - Wiley | Ecosphere
Laura Rubbia‐Brandt, Marguerite Neerman‐Arbez, Anne‐Laure Rougemont, Pierre‐Jean G. Malé, Laurent Spahr,
... storage disease due to an FGG Arg375Trp (fibrinogen Aguadilla) mutation. Our results suggest that familial hypofibrinogenemia should ...
Tópico(s): Lipid metabolism and disorders
2006 - Lippincott Williams & Wilkins | The American Journal of Surgical Pathology
Meihong Zhang, A. S. Knisely, Neng‐Li Wang, Jing‐Yu Gong, Jian‐She Wang,
... patient with FSD, caused by de novo fibrinogen Aguadilla mutation, and his response to pharmacologic management. Epistaxis ...
Tópico(s): Botulinum Toxin and Related Neurological Disorders
2016 - BioMed Central | BMC Gastroenterology
Roland LaForge, William R. McCann,
... Article| July 05, 2017 Address‐Level Effects in Aguadilla, Puerto Rico, from the 1918 Mw 7.3 ... LaForge, William R. McCann; Address‐Level Effects in Aguadilla, Puerto Rico, from the 1918 Mw 7.3 ... in digital format. Petitions from the town of Aguadilla, which was closest to the epicenter, were analyzed ...
Tópico(s): Seismic Waves and Analysis
2017 - Seismological Society of America | Seismological Research Letters
Irving Fox, A. H. Boike, Ileana García-Moll,
... flooding of dry material, natural rock holes in Aguadilla, Puerto Rico, were shown to be breeding Aedes ...
Tópico(s): Malaria Research and Control
1960 - American Society of Tropical Medicine and Hygiene | American Journal of Tropical Medicine and Hygiene
Armando Rodríguez‐Durán, Allen R. Lewis,
... for two consecutive winters at a cave in Aguadilla, Puerto Rico. Falcons were present from October to ...
Tópico(s): Species Distribution and Climate Change
1985 - Wiley | Biotropica
Robert W. Marion, David Chitayat, R. Gordon Hutcheon, Rosalie Goldberg, Robert J. Shprintzen, M. Michael Cohen,
... the relatively isolated towns of San Sebastian and Aguadilla in Puerto Rico; (2) two sets of affected ...
Tópico(s): Dermatologic Treatments and Research
1987 - American Medical Association | Archives of Pediatrics and Adolescent Medicine
U. S. Inan, Tobias Wolf, D. L. Carpenter,
... and the other (28.5 kHz) originating at Aguadilla, Peurto Rico, and observed at Lake Mistissini, Quebec. ...
Tópico(s): Earthquake Detection and Analysis
1988 - American Geophysical Union | Journal of Geophysical Research Atmospheres
Stephen O. Brennan, Ghassan J. Maghzal, Benjamin L. Shneider, Ronald Gordon, Margret S. Magid, Peter M. George,
The proposita and her sister had chronically elevated liver function test results, and needle biopsy specimens showed scattered eosinophilic inclusions within the hepatocytes. On immunoperoxidase staining, the inclusions reacted strongly with anti-fibrinogen antisera; on electron-microscopic (EM) examination, the material appeared confined to the endoplasmic reticulum (ER) and was densely packed into tubular structures with a swirling fingerprint appearance. Coagulation investigations showed low functional ...
Tópico(s): Iron Metabolism and Disorders
2002 - Lippincott Williams & Wilkins | Hepatology
Karim Altaii, Robert N. Farrugia,
... system installation seem to exist in and around Aguadilla and Ponce.
Tópico(s): Wind and Air Flow Studies
2003 - Elsevier BV | Renewable Energy
Néstor M. Carballeira, Heidyleen Cruz, Elsie A. Orellano, Fernando A. González,
... recently identified in the sponge Amphimedon complanata from Aguadilla, Puerto Rico, and to test its cytotoxicity to ...
Tópico(s): Carbohydrate Chemistry and Synthesis
2003 - Elsevier BV | Chemistry and Physics of Lipids
Paola Francalanci, Filippo M. Santorelli, Ilaria Talini, Renata Boldrini, Rita De Vito, Francesca Diomedi‐Camassei, Giuseppe Maggiore, Francesco Callea,
... disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation ...
Tópico(s): Erythrocyte Function and Pathophysiology
2006 - Elsevier BV | The Journal of Pediatrics
Benjamin D. Gold, Richard B. Colletti, Myles B. Abbott, Steven J. Czinn, Yoram Elitsur, Eric Hassall, Colin Macarthur, John Snyder, Philip M. Sherman,
... ChekMed Systems Inc., Camphill, PA; PyloriTek, Horizons International, Aguadilla, Puerto Rico) provides indirect identification of H. pylori ...
Tópico(s): Gastrointestinal disorders and treatments
2000 - Lippincott Williams & Wilkins | Journal of Pediatric Gastroenterology and Nutrition
Florian Puls, Imeke Goldschmidt, Heike Bantel, Clemens Agné, Verena Bröcker, Maximilian Ernst Dämmrich, Ulrich Lehmann, Jens Berrang, Eva‐Doreen Pfister, Hans Kreipe, Ulrich Baumann,
... in 2 newly identified FSD families with fibrinogen Aguadilla and Brescia mutations, encompassing 8 affected members. Available ...
Tópico(s): Erythrocyte Function and Pathophysiology
2013 - Elsevier BV | Journal of Hepatology
George D. Bittner, Kiran Kumar Rokkappanavar, Jean Péduzzi,
... described above containing 100 μM methylene blue (Faulding, Aguadilla, PR, USA) to prevent vesicle formation and interactions. ( ...
Tópico(s): Nerve Injury and Rehabilitation
2015 - Medknow | Neural Regeneration Research
TS Viehman, James L. Hench, SP Griffin, Amit Malhotra, Katharine Egan, PN Halpin,
... Marine Fisheries Service, Restoration Center, 260 Guard Road, Aguadilla, Puerto Rico 00605, USA 4JHT Inc., 2710 Discovery ...
Tópico(s): Marine and coastal plant biology
2018 - Inter-Research | Marine Ecology Progress Series
Miguel F. Canals Silander, C. Moreno,
... swells, particularly the region between the towns of Aguadilla and Fajardo. This region is likely the most ...
Tópico(s): Ocean Waves and Remote Sensing
2019 - Elsevier BV | Renewable Energy
Leilei Gu, Bin Wang, Lu Liu, Qiaorong Gan, Xiaolong Liu, Lihong Chen, Li Chen,
Hepatic fibrinogen storage disease is a rare autosomal dominant genetic disorder characterized by hypofibrinogenemia, as well as the retention of variant fibrinogen within the hepatocellular endoplasmic reticulum. Here, we describe an asymptomatic 4-year-old boy with abnormal liver function test results and unexpected hypofibrinogenemia. Liver biopsy showed circular eosinophil inclusion bodies in the hepato-cytoplasm. Immunostaining results of eosinophil inclusion bodies were positive for fibrinogen. ...
Tópico(s): Hemoglobinopathies and Related Disorders
2020 - SAGE Publishing | Journal of International Medical Research
... six stations Balboa, Panama; San Juan, P.R.; Aguadilla, P.R.; Burbank, Calif.; Oklahoma City, Okla.; and ...
Tópico(s): Astro and Planetary Science
1965 - American Meteorological Society | Monthly Weather Review