Results 21 to 30 of about 1,727,695 (209)

Molecular Genetics of the Psychosis Phenotype [PDF]

The Canadian Journal of Psychiatry, 2012
Objective: Relative to recent successes in elucidating the genetic mechanisms associated with complex diseases, including macular degeneration, diabetes mellitus, type 2, heart disease, and cancer, molecular genetic approaches to psychiatric illness have met with more limited success.
Pamela, DeRosse, Anil K, Malhotra, Todd, Lencz   +2 more
openaire   +3 more sources

Molecular phenotyping of plant single cell-types enhances forward genetic analysis

Frontiers in Plant Science, 2015
Recent advances in the isolation of single cell-types in plants provides an opportunity to conduct detailed analyses of their molecular characteristics at high resolution.
John eSchiefelbein
doaj   +1 more source

HPMPdb: A machine learning-ready database of protein molecular phenotypes associated to human missense variants

Current Research in Structural Biology, 2022
Current human Single Amino acid Variants (SAVs) databases provide a link between a SAVs and their effect on the carrier individual phenotype, often dividing them into Deleterious/Neutral variants. This is a very coarse-grained description of the genotype-
Daniele Raimondi, Francesco Codicè, Gabriele Orlando, Joost Schymkowitz, Frederic Rousseau, Yves Moreau   +5 more
doaj   +1 more source

Molecular mechanisms controlling the phenotype and the EMT/MET dynamics of hepatocyte [PDF]

, 2014
The complex spatial and paracrine relationships between the various liver histotypes are essential for proper functioning of the hepatic parenchymal cells.
Fausto N, Lazarevich NL, Michelotti GA, Omenetti A, Spagnoli FM, Treyer A, Valdes F   +6 more
core   +3 more sources

Molecular Phenotypes of Kidney Graft Rejection [PDF]

Kidney and Blood Pressure Research, 2011
In the last decade, gene expression studies of kidney transplants provided an opportunity to better understand the development and regulation of kidney graft rejection. This review outlines the progress in the definition of biomarkers of rejection and, above all, concentrates on studies of the molecular phenotype of rejection.
Petra, Hribova, Ondrej, Viklicky
openaire   +2 more sources

Early metabolic response using FDG PET/CT and molecular phenotypes of breast cancer treated with neoadjuvant chemotherapy

BMC Cancer, 2011
Background This study was aimed 1) to investigate the predictive value of FDG PET/CT (fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography) for histopathologic response and 2) to explore the results of FDG PET/CT by molecular ...
Han Wonshik, Kim Jee, Cho Nariya, Oh Do-Youn, Han Sae-Won, Koh Youngil, Im Seock-Ah, Keam Bhumsuk, Kang Keon, Moon Woo, Kim Tae-You, Park In, Noh Dong-Young, Chung June-Key, Bang Yung-Jue   +14 more
doaj   +1 more source

Single sample scoring of molecular phenotypes [PDF]

BMC Bioinformatics, 2018
Gene set scoring provides a useful approach for quantifying concordance between sample transcriptomes and selected molecular signatures. Most methods use information from all samples to score an individual sample, leading to unstable scores in small data sets and introducing biases from sample composition (e.g.
Momeneh Foroutan, Dharmesh D. Bhuva, Ruqian Lyu, Kristy Horan, Joseph Cursons, Melissa J. Davis   +5 more
openaire   +4 more sources

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Nature Communications, 2020
De novo mutations significantly contribute to autism spectrum disorders (ASD). Here, the authors demonstrate that ASD-associated de novo mutations in the POGZ gene, one of a high-confidence ASD gene, lead to ASD-related impaired neuronal development and ...
Kensuke Matsumura, Kaoru Seiriki, Shota Okada, Masashi Nagase, Shinya Ayabe, Ikuko Yamada, Tamio Furuse, Hirotoshi Shibuya, Yuka Yasuda, Hidenaga Yamamori, Michiko Fujimoto, Kazuki Nagayasu, Kana Yamamoto, Kohei Kitagawa, Hiroki Miura, Nanaka Gotoda-Nishimura, Hisato Igarashi, Misuzu Hayashida, Masayuki Baba, Momoka Kondo, Shigeru Hasebe, Kosei Ueshima, Atsushi Kasai, Yukio Ago, Atsuko Hayata-Takano, Norihito Shintani, Tokuichi Iguchi, Makoto Sato, Shun Yamaguchi, Masaru Tamura, Shigeharu Wakana, Atsushi Yoshiki, Ayako M. Watabe, Hideyuki Okano, Kazuhiro Takuma, Ryota Hashimoto, Hitoshi Hashimoto, Takanobu Nakazawa   +37 more
doaj   +1 more source

Psychometric precision in phenotype definition is a useful step in molecular genetic investigation of psychiatric disorders [PDF]

, 2015
Affective disorders are highly heritable, but few genetic risk variants have been consistently replicated in molecular genetic association studies. The common method of defining psychiatric phenotypes in molecular genetic research is either a summation ...
A Brown, A Demirkan, AE Green, BF Voight, CC Minica, DP Goldberg, DP Goldberg, F Samejima, F Stephenson, FF Chen, FV Rijsdijk, HM Kravitz, HW Marsh, HW Marsh, HW Marsh, HW Marsh, HW Marsh, J Liao, JC Barrett, K Hek, K Rousseau, L Hu, LE Duncan, LK Muthén, M Burmeister, M Eid, M Feyder, M Jansson, M Jeon, M Stafford, MEJ Wadsworth, NK Hansell, NR Wray, P McGuffin, P Sklar, P Sullivan, PH Lee, R Plomin, RL Jennrich, RL Jennrich, S Papiol, S Ripke, S van der Sluis, S van der Sluis, S van der Sluis, SE Medland, SP Reise, SP Reise, SP Reise, SP Reise, T Shah, U Reininghaus, U Reininghaus, V Panicker, W Feng, X Fan   +55 more
core   +9 more sources