Zobrazeno 1 - 10
of 434
pro vyhledávání: '"T. Shieh"'
Autor:
Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
Summary: Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumul
Externí odkaz:
https://doaj.org/article/965a160fc4094ecfbc3483a36e5e6fc3
Autor:
Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica R.C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson
Publikováno v:
JCI Insight, Vol 8, Iss 9 (2023)
Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the lymphatics can result in debilitating and life-threatening disease with limited treatment options. We identified 4 individuals with CCLA, lymphedema, and microcystic
Externí odkaz:
https://doaj.org/article/dbb1621c63f0402d899d8812942cb9d1
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
The severity of rare genetic diseases often varies between individuals, but small sample sizes make it difficult to identify contributing factors. Here, the authors use biobank-scale clinical and genetic data to investigate a role for common genetic
Externí odkaz:
https://doaj.org/article/287896743f8a4a8694536236bb2479fa
Autor:
Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Current genetic testenhancer and narrows the diagnostic intervals for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to d
Externí odkaz:
https://doaj.org/article/9a465491e52f48439eba018a2a0c7a7a
Autor:
Joseph H. Garcia, Ethan A. Winkler, Kerstin Müller, Evan Kao, Kazim Narsinh, Nerissa Ko, Patricia Cornett, Adib A. Abla, Joseph T. Shieh, Daniel L. Cooke
Publikováno v:
Stroke: Vascular and Interventional Neurology, Vol 2, Iss 5 (2022)
Externí odkaz:
https://doaj.org/article/38cafdf1d407417b9747794d8c097691
Autor:
Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/5e3c11cfdf3f4c82bfe28483d4bc97d0
Autor:
Monica Penon‐Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban‐Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
Publikováno v:
American Journal of Medical Genetics Part A. 188:2360-2366
Joubert syndrome (JS), a well-established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. Other manifestations can include polydactyly, accessory frenula, renal, or liver disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ad4c75a2c06746d400fd9576a5035f5
https://doi.org/10.1002/ajmg.a.62872
https://doi.org/10.1002/ajmg.a.62872
Autor:
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded byFTLandFTH1, respectively. Heterozygous variants inFTLcause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e468d10d9be433607d8768fc65e418b4
https://doi.org/10.1101/2023.01.30.23285099
https://doi.org/10.1101/2023.01.30.23285099
Publikováno v:
Radiology. 300:17-30
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that manifests as vascular malformations in the brain, lung, liver, gastrointestinal tract, nasal mucosa, and skin. Diagnosis and management of HHT is guided in large part b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::610e1af5f4ea95805073cbbca344ee0f
https://doi.org/10.1148/radiol.2021203487
https://doi.org/10.1148/radiol.2021203487
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