Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Kinga M. Bujakowska"'
Autor:
Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily M. Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Stephanie DiTroia, Emily O’Heir, Jacque L. Duncan, Eric A. Pierce, Christina Zeitz, Isabelle Audo, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in whic
Externí odkaz:
https://doaj.org/article/9a6d74c45c7c47959cf5560f3852ea5d
Autor:
Blake M. Hauser, Yuyang Luo, Anusha Nathan, Ahmad Al-Moujahed, Demetrios G. Vavvas, Jason Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Gaurav D. Gaiha, Elizabeth J. Rossin
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Advances in gene sequencing technologies have accelerated the identification of genetic variants, but better tools are needed to understand which are causal of disease. This would be particularly useful in fields where gene therapy is a pote
Externí odkaz:
https://doaj.org/article/687636a497b74f41b978034f522f3392
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Jason Comander, Carol Weigel DiFranco, Kit Sanderson, Emily Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M. Huckfeldt, Kinga M. Bujakowska, Eric Pierce
Publikováno v:
JCI Insight, Vol 8, Iss 15 (2023)
BACKGROUND A randomized clinical trial from 1984 to 1992 indicated that vitamin A supplementation had a beneficial effect on the progression of retinitis pigmentosa (RP), while vitamin E had an adverse effect.METHODS Sequencing of banked DNA samples
Externí odkaz:
https://doaj.org/article/98a5494fd08d47e88557904aa8156ef2
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Autor:
Andrew J, Catomeris, Brian G, Ballios, Riccardo, Sangermano, Naomi E, Wagner, Jason I, Comander, Eric A, Pierce, Emily M, Place, Kinga M, Bujakowska, Rachel M, Huckfeldt
Publikováno v:
Ophthalmic Genet
BACKGROUND: Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::274cff1e90cc2e77199260499acd922f
https://pubmed.ncbi.nlm.nih.gov/35057699
https://pubmed.ncbi.nlm.nih.gov/35057699
Autor:
Andrew J. Catomeris, Brian G. Ballios, Riccardo Sangermano, Naomi E. Wagner, Jason I. Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Rachel M. Huckfeldt
Publikováno v:
Ophthalmic Genetics. 43:332-339
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0af96192a875cf213685863fd2b24e93
https://doi.org/10.1080/13816810.2021.2023196
https://doi.org/10.1080/13816810.2021.2023196
Autor:
Riccardo, Sangermano, Pooja, Biswas, Lori S, Sullivan, Emily M, Place, Shyamanga, Borooah, Juerg, Straubhaar, Eric A, Pierce, Stephen P, Daiger, Kinga M, Bujakowska, Radha, Ayaggari
Publikováno v:
Cold Spring Harbor molecular case studies. 8(7)
A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fda6f050fd7961b30dc924009ba56806
https://pubmed.ncbi.nlm.nih.gov/36376065
https://pubmed.ncbi.nlm.nih.gov/36376065
Autor:
Wassila Carpentier, Thierry Léveillard, Christine Lonjou, Jean-Paul Saraiva, Christel Condroyer, Saddek Mohand-Said, Shomi S. Bhattacharya, Hélène Dollfus, Maria Solaguren-Beascoa, Vanessa Démontant, Lisa Emmenegger, Marie-Elise Lancelot, Elise Orhan, Kinga M. Bujakowska, Christelle Michiels, Marion Neuillé, José-Alain Sahel, Isabelle Audo, Cécile Méjécase, Eric A. Pierce, Mélanie Letexier, Christina Zeitz, Aline Antonio
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Clin Genet
instname
Clin Genet
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44cde5c40265d3626bdc0a9b830ebf84
https://doi.org/10.1111/cge.13872
https://doi.org/10.1111/cge.13872
Autor:
Emily Place, Benyam Kinde, Matthew Maher, Eric A. Pierce, Daniel Navarro-Gomez, Erin Zampaglione, Farzad Jamshidi, Caitlin Finn, J. Alex Mazzone, Sherwin Nassiri, Jason Comander, Kinga M. Bujakowska, Dana Schlegel
Publikováno v:
Genetics in Medicine
PurposeCurrent sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32dbc5d8ed020255fd32d5f966a791e2
http://europepmc.org/articles/PMC7272325
http://europepmc.org/articles/PMC7272325