Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Nicholas J. Marini"'
Autor:
Semira Gonseth, Gary M. Shaw, Ritu Roy, Mark R. Segal, Kripa Asrani, Jasper Rine, Joseph Wiemels, Nicholas J. Marini
Publikováno v:
Epigenetics, Vol 14, Iss 2, Pp 198-213 (2019)
Cleft lip with or without cleft palate (CL/P) is a common human birth defect whose etiologies remain largely unknown. Several studies have demonstrated that periconceptional supplementation of folic acid can reduce risk of CL/P in offspring. In this
Externí odkaz:
https://doaj.org/article/a44c6ec8b0b940e9b45c59b522f17f40
Autor:
Nicholas J. Marini, Tian Tian, Robert M. Cabrera, Cindy Hu, Aiguo Ren, John W. Steele, Sung Eun Kim, Richard H. Finnell, Ying Linda Lin, Bogdan J. Wlodarczyk, Linlin Wang, Ethan N. Hoffman, Menuka Karki, Gary M. Shaw, Yunping Lei, Wei Yang, Xiao Han, Xuanye Cao
Publikováno v:
Hum Mol Genet
Neural tube defects (NTDs) are a group of severe congenital malformations caused by a failure of neural tube closure during early embryonic development. Although extensively investigated, the genetic etiology of NTDs remains poorly understood. FKBP8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393e50bbfaf7ede56ce49174d6d54724
https://europepmc.org/articles/PMC7645715/
https://europepmc.org/articles/PMC7645715/
Autor:
Nicholas J Marini, Thomas J Hoffmann, Edward J Lammer, Jill Hardin, Katherine Lazaruk, Jason B Stein, Dennis A Gilbert, Crystal Wright, Anna Lipzen, Len A Pennacchio, Suzan L Carmichael, John S Witte, Gary M Shaw, Jasper Rine
Publikováno v:
PLoS ONE, Vol 6, Iss 11, p e28408 (2011)
Despite compelling epidemiological evidence that folic acid supplements reduce the frequency of neural tube defects (NTDs) in newborns, common variant association studies with folate metabolism genes have failed to explain the majority of NTD risk. T
Externí odkaz:
https://doaj.org/article/5acd34c0f00748c7a2cdd2fea81fa73e
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e13584 (2010)
Recent findings suggest that rare variants play an important role in both monogenic and common diseases. Due to their rarity, however, it remains unclear how to appropriately analyze the association between such variants and disease. A common approac
Externí odkaz:
https://doaj.org/article/361747a4eb2e4c39befbd937b1966847
Publikováno v:
PLoS Genetics, Vol 6, Iss 5, p e1000968 (2010)
Computational predictions of the functional impact of genetic variation play a critical role in human genetics research. For nonsynonymous coding variants, most prediction algorithms make use of patterns of amino acid substitutions observed among hom
Externí odkaz:
https://doaj.org/article/7d018c7ea8c842299d97d5fd62e295b8
Publikováno v:
Genetic Testing and Molecular Biomarkers
Aims: Archived newborn bloodspots are valuable sample collections for genetic and epigenetic disease research. However, they have often been stored for long periods of time, under less than ideal circumstances, and nucleic acid yields can be low, par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46bb13cd3cdf1bf61b2277485aab8814
http://europepmc.org/articles/PMC5568181
http://europepmc.org/articles/PMC5568181
Autor:
Richard H. Finnell, Shruti Wadhwa, Nick H. Gargurevich, Robert M. Cabrera, Ethan N. Hoffman, Gary M. Shaw, Nicholas J. Marini, John W. Steele, Nikitha Bhavani, Xuanye Cao, Wei Yang, Chun‐Quan Cai, Margaret Elizabeth Ross, Tian Tian, Vanessa Aguiar-Pulido, Yunping Lei, Patrick Bi
Publikováno v:
Human mutation. 41(4)
DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle control, are essential for the rapid proliferation of neural progenitor cells. To date, the potential association between specific DDR genes and the risk of human neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a12958c2f2fc34200d98b97a300a0c
https://pubmed.ncbi.nlm.nih.gov/33856736
https://pubmed.ncbi.nlm.nih.gov/33856736
Publikováno v:
American journal of medical genetics. Part A, vol 179, iss 7
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part a
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb0c6b44986c9f313baa0790382abc5
https://escholarship.org/uc/item/4350z591
https://escholarship.org/uc/item/4350z591
Autor:
Mark R. Segal, Jasper Rine, Semira Gonseth, Gary M. Shaw, Ritu Roy, Nicholas J. Marini, Joseph L. Wiemels, Kripa Asrani
Publikováno v:
Epigenetics, vol 14, iss 2
Epigenetics
Epigenetics, vol. 14, no. 2, pp. 198-213
Epigenetics
Epigenetics, vol. 14, no. 2, pp. 198-213
Cleft lip with or without cleft palate (CL/P) is a common human birth defect whose etiologies remain largely unknown. Several studies have demonstrated that periconceptional supplementation of folic acid can reduce risk of CL/P in offspring. In this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b348783b2ac15eb951bce0d58b0772
https://escholarship.org/uc/item/1k0481c5
https://escholarship.org/uc/item/1k0481c5
Publikováno v:
G3: Genes|Genomes|Genetics
Any two individuals differ from each other by an average of 3 million single-nucleotide polymorphisms. Some polymorphisms have a functional impact on cofactor-using enzymes and therefore represent points of possible therapeutic intervention through e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb617a8298b1d12ea9aebabb0e07f143
https://doi.org/10.1534/g3.113.006916
https://doi.org/10.1534/g3.113.006916