Zobrazeno 1 - 10
of 142
pro vyhledávání: '"Claudia Gonzaga-Jauregui"'
Autor:
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
BackgroundPatients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized
Externí odkaz:
https://doaj.org/article/da71af76c6954864ad49d713a5a8c259
Autor:
Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
Externí odkaz:
https://doaj.org/article/bfe3845b80824c5996d10d21e1575e9d
Autor:
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
IntroductionRare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the lo
Externí odkaz:
https://doaj.org/article/2227df40187d4d7eabf002601c80d926
Autor:
Katie B. Williams, Michael Horst, Millie Young, Christine Pascua, Erik G. Puffenberger, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Alan R. Shuldiner, Samuel Gidding, Kevin A. Strauss, Devyani Chowdhury
Publikováno v:
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to cha
Externí odkaz:
https://doaj.org/article/9c49f8e572984b1ebc9b773d2df4750c
Autor:
Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, Joao Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga-Jauregui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and c
Externí odkaz:
https://doaj.org/article/e5af34b144c34633a1480d3b1be74c12
Autor:
Daniel J. Mulder, Sam Khalouei, Michael Li, Neil Warner, Claudia Gonzaga-Jauregui, Eric I. Benchimol, Peter C. Church, Thomas D. Walters, Arun K. Ramani, Anne M. Griffiths, Amanda Ricciuto, Aleixo M. Muise
Publikováno v:
Gastro Hep Advances, Vol 1, Iss 2, Pp 171-179 (2022)
Background and Aims: Diagnosis of monogenic disease is increasingly important for patient care and personalizing therapy. However, the current process is nonstandardized, expensive, and time consuming. There is currently no accepted strategy to help
Externí odkaz:
https://doaj.org/article/7ef71c83f50841e8a4240f9de91f52b8
Autor:
Zirui Dong, Dezso David, Claudia Gonzaga-Jauregui, Cynthia C. Morton, Cinthya J. Zepeda-Mendoza
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/4f7122da0cba42e88730f6837d269439
Autor:
Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)
Abstract Background Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has a genetic component,
Externí odkaz:
https://doaj.org/article/ce7f241b20c8405bb3d1d6a9635ffb16
Autor:
Eden Avnat, Guy Shapira, Shelly Shoval, Ifat Israel-Elgali, Anna Alkelai, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Jamal Zidan, Taiseer Maray, Noam Shomron, Eitan Friedman
Publikováno v:
Genes, Vol 14, Iss 4, p 937 (2023)
Background: Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders. Methods: Variant calling of whole-genome sequencing (WGS) of 40 Druze from the
Externí odkaz:
https://doaj.org/article/38430f1838d54821bb8108e4656073c0
Autor:
Julie E. Horowitz, Neil Warner, Jeffrey Staples, Eileen Crowley, Nehal Gosalia, Ryan Murchie, Cristopher Van Hout, Karoline Fiedler, Gabriel Welch, Alejandra Klauer King, Jeffrey G. Reid, John D. Overton, Aris Baras, Alan R. Shuldiner, Anne Griffiths, Omri Gottesman, Aleixo M. Muise, Claudia Gonzaga-Jauregui
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD
Externí odkaz:
https://doaj.org/article/1f5de0d61ecd4e8a964ff8857b3099dd