Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Sami S. Amr"'
Autor:
Jee-Yeon Ryu, Jianing Zhang, Selena-Rae Tirado, Sarajune Dagen, Kai U. Frerichs, Nirav J. Patel, M. Ali Aziz-Sultan, Alison Brown, Maximilian Rogers-Grazado, Sami S. Amr, Scott T. Weiss, Rose Du
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract Cerebral vasospasm (CVS) is an important contributor to delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage (aSAH), leading to high morbidity and long-term disability. While several microRNAs (miRNAs) have been implicated
Externí odkaz:
https://doaj.org/article/822c9c34275b4b54b57c49427a657656
Autor:
Casey Fowler, Christine Cserti-Gazdewich, Aggrey Dhabangi, Charles Musoke, Himanshu Sharma, Sami S. Amr, Walter Dzik
Publikováno v:
Malaria Journal, Vol 17, Iss 1, Pp 1-9 (2018)
Abstract Background Evolutionary pressure by Plasmodium falciparum malaria is known to have favoured a large number of human gene adaptations, but there is surprisingly little investigation of the effect of malaria on human mitochondrial sequence var
Externí odkaz:
https://doaj.org/article/406758ecfb794d3990710ab086200462
Autor:
Juan J. Carmona, William P. Accomando, Alexandra M. Binder, John N. Hutchinson, Lorena Pantano, Benedetta Izzi, Allan C. Just, Xihong Lin, Joel Schwartz, Pantel S. Vokonas, Sami S. Amr, Andrea A. Baccarelli, Karin B. Michels
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-10 (2017)
Epigenetics: choose your DNA methylation probing tool wisely! Researchers who study human epigenetics need to carefully consider the platform used to measure genome-wide patterns of DNA methylation. A team led by Karin Michels and Andrea Baccarelli f
Externí odkaz:
https://doaj.org/article/ca7ef4fedc904b3b8804fb40bf166092
Autor:
Maria Mavrikaki, Lorena Pantano, David Potter, Maximilian A. Rogers-Grazado, Eleni Anastasiadou, Frank J. Slack, Sami S. Amr, Kerry J. Ressler, Nikolaos P. Daskalakis, Elena Chartoff
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Anxiety disorders disproportionately affect women compared to men, which may arise from sex differences in stress responses. MiRNAs are small non-coding RNAs known to regulate gene expression through actions on mRNAs. MiRNAs are regulated, in part, b
Externí odkaz:
https://doaj.org/article/7fc8d24f8dc1481085ccad8ea80269a3
Autor:
Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included the CATSPER2 male infertility gene. However, given the low resolution of CMA at t
Externí odkaz:
https://doaj.org/article/1294f7efec9246909ce5b135713bb2a9
Autor:
Robert Chen, Maria Alejandra Diaz‐Miranda, Erfan Aref‐Eshghi, Tiffiney R. Hartman, Christopher Griffith, Jennifer L. Morrison, Patricia G. Wheeler, Erin Torti, Gabriele Richard, Margaret Kenna, Elizabeth T. Dechene, Nancy B. Spinner, Renkui Bai, Laura K. Conlin, Ian D. Krantz, Sami S. Amr, Minjie Luo
Publikováno v:
Human mutationREFERENCES.
Synonymous variants have been shown to alter the correct splicing of pre-mRNAs and generate disease-causing transcripts. These variants are not an uncommon etiology of genetic disease; however, they are frequently overlooked during genetic testing in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3e40d856ff7ca5195e476aed2fa497
https://pubmed.ncbi.nlm.nih.gov/35870179
https://pubmed.ncbi.nlm.nih.gov/35870179
Autor:
Maryline Beurg, Sami S. Amr, Robert Fettiplace, Andrea M. Oza, Amanda J. Barlow, Lisa A. Schimmenti, Alaa Koleilat, Angela Ballesteros
Publikováno v:
The Journal of Neuroscience
Transmembrane channel-like protein isoform 1 (TMC1) is a major component of the mechano-electrical transducer (MET) channel in cochlear hair cells and is subject to numerous mutations causing deafness. We report a new dominant human deafness mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f283488f9748ff6df8f37228c4d7dbdb
https://doi.org/10.1523/jneurosci.2537-20.2021
https://doi.org/10.1523/jneurosci.2537-20.2021
Autor:
Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm
Publikováno v:
Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-w
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a59c959649cc3aebd8383c0371b972af
https://doi.org/10.1038/s41431-020-00790-w
https://doi.org/10.1038/s41431-020-00790-w
Autor:
Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret Kenna, Hela Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad N. Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas Friedman, Anne Giersch, John Greinwald, Jeffrey Holt, Makoto Hosoya, Un-Kyung Kim, Ian Krantz, Suzanne Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morín, Cynthia Morton, Hideki Mutai, Arti Pandya, Richard Smith, Mustafa Tekin, Shin-Ichi Usami, Guy Van Camp, Kazuki Yamazawa, Hui-Jun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212
Genetics in Medicine, 23, 2208-2212
Genetics in Medicine, 23, 11, pp. 2208-2212
Contains fulltext : 243959.pdf (Publisher’s version ) (Closed access) PURPOSE: The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific American College o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1530263aad3e32e045d590785c198e
https://hdl.handle.net/2066/243959
https://hdl.handle.net/2066/243959
Autor:
Kelan G. Tantisira, Robert P. Chase, Alvin T. Kho, Jiang Li, Lorena Pantano, Sami S. Amr, Leanna Farnam
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports
Scientific Reports
Small RNA-Seq is a common means to interrogate the small RNA’ome or the full spectrum of small RNAs (https://github.com/cougarlj/COMPSRA.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3836f454345c59f9bad6e564c6666d5
http://link.springer.com/article/10.1038/s41598-020-61495-0
http://link.springer.com/article/10.1038/s41598-020-61495-0