Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Emily G Allen"'
Autor:
Jonathan M Chernus, Emily G Allen, Zhen Zeng, Eva R Hoffman, Terry J Hassold, Eleanor Feingold, Stephanie L Sherman
Publikováno v:
PLoS Genetics, Vol 15, Iss 12, p e1008414 (2019)
Human nondisjunction errors in oocytes are the leading cause of pregnancy loss, and for pregnancies that continue to term, the leading cause of intellectual disabilities and birth defects. For the first time, we have conducted a candidate gene and ge
Externí odkaz:
https://doaj.org/article/c6fd4ca6314a4ddf9dcb0c4719fecc46
Autor:
Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge
Publikováno v:
Reproductive Biology and Endocrinology, Vol 22, Iss 1, Pp 1-7 (2024)
Abstract Background Premutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, defined as between 55 and 200 CGGs, have been implicated in fragile X-associated primary ovarian insufficiency (FXPOI). Only 20% of female premutation carrie
Externí odkaz:
https://doaj.org/article/3377385c90104102a02fb3c4967bb34b
Autor:
Andrea Elias-Mas, Miriam Potrony, Jaume Bague, David J. Cutler, Maria Isabel Alvarez-Mora, Teresa Torres, Tamara Barcos, Joan Anton Puig-Butille, Marta Rubio, Irene Madrigal, Susana Puig, Emily G. Allen, Laia Rodriguez-Revenga
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2023)
IntroductionFragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Clinical symptoms in FXTAS patients usua
Externí odkaz:
https://doaj.org/article/2c323e1e817240288503176d3c886aa5
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments
Externí odkaz:
https://doaj.org/article/f0c32f40804c4708bf799669b39c2232
Autor:
Fei Gao, Wen Huang, Yanjun You, Jie Huang, Juan Zhao, Jin Xue, Huaixing Kang, Yingbao Zhu, Zhengmao Hu, Emily G. Allen, Peng Jin, Kun Xia, Ranhui Duan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5′ untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hype
Externí odkaz:
https://doaj.org/article/4c49a3325c194a33b146a972c5a33cc8
Autor:
Bonnie Poteet, Nadia Ali, Cecelia Bellcross, Stephanie L. Sherman, Whitney Espinel, Heather Hipp, Emily G. Allen
Publikováno v:
Journal of Assisted Reproduction and Genetics. 40:179-190
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb9bdb6b7f153eb827e4c70b3ef7b71b
https://doi.org/10.1007/s10815-022-02671-1
https://doi.org/10.1007/s10815-022-02671-1
Autor:
Yulin Jin, Kenong Su, Ha Eun Kong, Wenjing Ma, Zhiqin Wang, Yujing Li, Ronghua Li, Emily G Allen, Hao Wu, Peng Jin
Publikováno v:
Human Molecular Genetics. 32:218-230
DNA methylation plays a critical function in establishing and maintaining cell identity in brain. Disruption of DNA methylation-related processes leads to diverse neurological disorders. However, the role of DNA methylation characteristics in neurona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c3fe0d7067080c81536ba25f3154c5
https://doi.org/10.1093/hmg/ddac189
https://doi.org/10.1093/hmg/ddac189
Autor:
Ying Cheng, Miao Sun, Li Chen, Yujing Li, Li Lin, Bing Yao, Ziyi Li, Zhiqin Wang, Jack Chen, Zhigang Miao, Ning Xin, Luoxiu Huang, Emily G. Allen, Hao Wu, Xingshun Xu, Peng Jin
Publikováno v:
Cell Reports, Vol 25, Iss 11, Pp 3194-3203.e4 (2018)
Summary: 5-hydroxymethylcytosine (5hmC) is enriched in brain and has been recognized as an important DNA modification. However, the roles of 5hmC and its writers, ten-eleven translocation (Tet) proteins, in stress-induced response have yet to be eluc
Externí odkaz:
https://doaj.org/article/cbacd9b9dda446f0a8afc190393a2c26
Publikováno v:
Molecular Psychiatry. 27:3633-3646
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6cb17e6372dc540f3de2867679b2e3f
https://doi.org/10.1038/s41380-022-01570-2
https://doi.org/10.1038/s41380-022-01570-2
Autor:
Emily G. Allen, Anne Glicksman, Nicole Tortora, Krista Charen, Weiya He, Ashima Amin, Heather Hipp, Lisa Shubeck, Sarah L. Nolin, Stephanie L. Sherman
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linea
Externí odkaz:
https://doaj.org/article/429d4b79ba8848cc8da417e13b63f334