The Intersection of Genome, Epigenome and Social Experience in Autism: Exploring Modifiable Pathways for Intervention

Autor: Lane Strathearn, Allison Momany, Emese Kovacs, William Guiler, Christine Ladd-Acosta

The number of children diagnosed with autism spectrum disorder (ASD) has increased substantially over the past two decades with current research unable to fully account for this dramatic increase in prevalence. One explanation proposes that both intr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255485d21eeaec2cb35f67cd9b1d5765

Genetic Associations With Gestational Duration and Spontaneous Preterm Birth

Autor: David A. Hinds, Bjarke Feenstra, Bo Jacobsson, Nadia K. Litterman, Mika Rämet, Kelli K Ryckman, Lisa M. Muglia, Youna Hu, Jamie Maziarz, Minna K. Karjalainen, Leah C. Kottyan, Carmy Forney, Mauris C. Nnamani, Daniel Miller, Johanna M. Huusko, Matthew T. Weirauch, Ellen A. Nohr, Allison Momany, George Davey Smith, Frank Geller, Xueping Liu, Bruce Bedell, Aarno Palotie, Mihaela Pavlicev, Arun R. Chavan, Louis J. Muglia, Pan Pan Jiang, Kari Teramo, Heather A. Boyd, Mads Melbye, Mikko Hallman, Verena Sengpiel, Günter P. Wagner, Julius Juodakis, Xiaoting Chen, Jonas Bacelis, Ge Zhang, Laura Russell

Publikováno v: Zhang, G, Feenstra, B, Bacelis, J, Liu, X, Muglia, L M, Juodakis, J, Miller, D E, Litterman, N, Jiang, P-P, Russell, L, Hinds, D A, Hu, Y, Weirauch, M T, Chen, X, Chavan, A R, Wagner, G P, Pavličev, M, Nnamani, M C, Maziarz, J, Karjalainen, M K, Rämet, M, Sengpiel, V, Geller, F, Boyd, H A, Palotie, A, Momany, A, Bedell, B, Ryckman, K K, Huusko, J M, Forney, C R, Kottyan, L C, Hallman, M, Teramo, K, Nohr, E A, Davey Smith, G, Melbye, M, Jacobsson, B & Muglia, L J 2017, ' Genetic Associations with Gestational Duration and Spontaneous Preterm Birth ', The New England Journal of Medicine, vol. 377, no. 12, pp. 1156-1167 . https://doi.org/10.1056/NEJMoa1612665
Zhang, G, Feenstra, B, Bacelis, J, Liu, X, Muglia, L M, Juodakis, J, Litterman, N, Hinds, D A, Hu, Y, Weirauch, M T, Chen, X, Chavan, A R, Wagner, G P, Pavličev, M, Nnamani, M C, Maziarz, J, Karjalainen, M K, Rämet, M, Sengpiel, V, Geller, F, Boyd, H A, Palotie, A, Momany, A, Bedell, B, Ryckman, K K, Huusko, J M, Forney, C R, Kottyan, L C, Hallman, M, Teramo, K, Nohr, E A, Smith, G D, Melbye, M, Jacobsson, B & Muglia, L J 2017, ' Genetic associations with gestational duration and spontaneous preterm birth ', New England Journal of Medicine, vol. 377, no. 12, pp. 1156-1167 . https://doi.org/10.1056/NEJMoa1612665
The New England Journal of Medicine
Zhang, G, Feenstra, B, Bacelis, J, Liu, X, Muglia, L M, Juodakis, J, Miller, D E, Litterman, N, Jiang, P P, Russell, L, Hinds, D A, Hu, Y, Weirauch, M T, Chen, X, Chavan, A R, Wagner, G P, Pavličev, M, Nnamani, M C, Maziarz, J, Karjalainen, M K, Ramet, M, Sengpiel, V, Geller, F, Boyd, H A, Palotie, A, Momany, A, Bedell, B, Ryckman, K K, Huusko, J M, Forney, C R, Kottyan, L C, Hallman, M, Teramo, K, Nohr, E A, Davey Smith, G, Melbye, M, Jacobsson, B & Muglia, L J 2018, ' Genetic Associations with Gestational Duration and Spontaneous Preterm Birth ', Obstetrical and Gynecological Survey, vol. 73, no. 2, pp. 83-85 . https://doi.org/10.1097/01.ogx.0000530434.15441.45

Background: Despite evidence that genetic factors contribute to the duration of gestation and the risk of preterm birth, robust associations with genetic variants have not been identified. We used large data sets that included the gestational duratio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c91222807de9a168bf9bb010ac555b
https://doi.org/10.1097/01.ogx.0000530434.15441.45

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Autor: Martine Dunnwald, Luis G. Vargas, Carmen C. Garcia, Zeina C. Hannoush, Jeydith Gutierrez, Jeffrey C. Murray, Allison Momany

Publikováno v: Molecular Genetics & Genomic Medicine

Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b979958de5de0c3fd6fad0fc50af58b
http://europepmc.org/articles/PMC3744379

Genetic Variants Associated With Severe Retinopathy of Prematurity in Extremely Low Birth Weight Infants

Autor: M Elizabeth, Hartnett, Margaux A, Morrison, Silvia, Smith, Tammy L, Yanovitch, Terri L, Young, Tarah, Colaizy, Allison, Momany, John, Dagle, Waldemar A, Carlo, Erin A S, Clark, Grier, Page, Jeff, Murray, Margaret M, DeAngelis, C Michael, Cotten, JoAnn, Poulsen

Publikováno v: Investigative Opthalmology & Visual Science. 55:6194

PURPOSE To determine genetic variants associated with severe retinopathy of prematurity (ROP) in a candidate gene cohort study of US preterm infants. METHODS Preterm infants in the discovery cohort were enrolled through the Eunice Kennedy Shriver Nat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058352100c3a700cbfb0928e914aa94c
https://doi.org/10.1167/iovs.14-14841