Nonlethal presentations of CYP26B1 ‐related skeletal anomalies and multiple synostoses syndrome

Autor: Lauren Lulis, Jennifer L. Cohen, Jennifer Tarpinian, Sarah Mazzola, Emma Bedoukian, Katheryn Grand, Cara M. Skraban, Beth Denenberg, Matthew A. Deardorff, Leah Dowsett, Elaine H. Zackai, Addie I. Nesbitt, Avni Santani

Publikováno v: American Journal of Medical Genetics Part A. 185:2766-2775

Retinoic acid exposures as well as defects in the retinoic acid-degrading enzyme CYP26B1 have teratogenic effects on both limb and craniofacial skeleton. An initial report of four individuals described a syndrome of fetal and infantile lethality with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b628e930f2d505c1fa7c5c50b047d459
https://doi.org/10.1002/ajmg.a.62387

Global state measures of the dentate gyrus gene expression system predict antidepressant-sensitive behaviors.

Autor: Benjamin A Samuels, E David Leonardo, Alex Dranovsky, Amanda Williams, Erik Wong, Addie May I Nesbitt, Richard D McCurdy, Rene Hen, Mark Alter

Publikováno v: PLoS ONE, Vol 9, Iss 1, p e85136 (2014)

Selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine are the most common form of medication treatment for major depression. However, approximately 50% of depressed patients fail to achieve an effective treatment response. Understanding

Externí odkaz: https://doaj.org/article/ed0741f32b7c49a080389c2b41a13b9e

A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening

Autor: Xiang Wang, Kallyn Stumm, Addie I. Nesbitt, Christine H. Chung, Margaret Harr, Sallie McAdoo, Deborah Watson, Hakon Hakonarson, Fernanda Abani Mafra, Avni Santani, Marco L. Leung

Publikováno v: The Journal of molecular diagnostics : JMD. 23(1)

Carrier screening involves detection of carrier status for genes associated with recessive conditions. A negative carrier screening test result bears a nonzero residual risk (RR) for the individual to have an affected child. The RR depends on the pre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a0bcba81b168876defdbf8e1a3f3fe3
https://pubmed.ncbi.nlm.nih.gov/33349347

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Autor: Holly Dubbs, Diana Johnson, Anna Fliedner, Jonas Straub, Anne Gregor, Enrico D.H. Konrad, Meredith Phillips, Alexander P.A. Stegmann, Christiane Zweier, Maaike Vreeburg, Avni Santani, Lacey Smith, Bryan L. Krock, Levinus A. Bok, Constance T. R. M. Stumpel, Annapurna Poduri, Ganka Douglas, Addie I. Nesbitt, Heinrich Sticht, Heather P. Crawford, Johanna Grüner, Xilma R. Ortiz-Gonzalez, Rebekah Jobling, Mohamad A. Mikati, Zöe Powis, Joost Nicolai, Megan T. Cho, Annick Toutain

Publikováno v: American Journal of Human Genetics, 102(1), 44-57. Cell Press

Although the role of typical Rho GTPases and other Rho-linked proteins in synaptic plasticity and cognitive function and dysfunction is widely acknowledged, the role of atypical Rho GTPases (such as RHOBTB2) in neurodevelopment has barely been charac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8979770493ea42149f6442f44264a312
https://cris.maastrichtuniversity.nl/en/publications/1c1b0334-bb5f-4093-b689-210e83b7b3f6

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Autor: Lilian Bomme Ousager, Anne Gregor, Bruno Dallapiccola, Sébastien Moutton, Marwan Shinawi, Heather C Mefford, Eduardo Calpena, Satoko Kumada, Joseph D. Symonds, Candace T. Myers, Antonio Novelli, Melissa Lees, Bertrand Isidor, Tobias B. Haack, Augusta M. A. Lachmeijer, Francisco Martínez, Anita Rauch, André Reis, Carmen Orellana, Pascal Joset, Rebecca Buchert, Laurence Faivre, Naomichi Matsumoto, Frances Elmslie, Ajoy Sarkar, Katharina Steindl, Mónica Roselló, Ingrid E. Scheffer, Lynette G. Sadleir, Victoria Harrison, Agatino Battaglia, Alex Henderson, Sally Ann Lynch, Felix Distelmaier, Ange Line Bruel, Paranchai Boonsawat, Noriko Miyake, Heinrich Sticht, David Hunt, Carey McDougall, Addie I. Nesbitt, Silvia Azzarello-Burri, Avni Santani, Reza Asadollahi, Benjamin Cogné, Elaine H. Zackai, Ken Saida, Christiane Zweier

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 103 (2), pp.305-316. ⟨10.1016/j.ajhg.2018.07.003⟩
American Journal of Human Genetics, 103(2), 305. Cell Press
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
University of Washington Center for Mendelian Genomics 2018, ' De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder ', American Journal of Human Genetics, vol. 103, no. 2, pp. 305-316 . https://doi.org/10.1016/j.ajhg.2018.07.003

International audience; Next-generation sequencing combined with international data sharing has enormously facilitated identification of new disease-associated genes and mutations. This is particularly true for genetically extremely heterogeneous ent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc38abe5dcae30aec57484aaa88491f
https://europepmc.org/articles/PMC6080769/