Results 61 to 70 of about 3,861,183 (367)

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics, 2020
Chromosome 15 imprinting disorders include Prader-Willi (PWS) and Angelman (AS) syndromes, which are caused by absent expression from the paternal and maternal alleles in the chromosome 15q11. 2–q13 region, respectively.
Merlin G. Butler, Jessica Duis
doaj   +1 more source

Cis‐unsaturated sphingolipids support growth of sphingoid base‐deficient yeast but impair plasma membrane integrity

FEBS Open Bio, EarlyView.
Sphingoid base structures, the sphingolipid backbones, vary among species. We established yeast cells in which the native sphingoid base was replaced with plant‐type bases containing cis or trans double bonds. This is, to our knowledge, the first eukaryotic model mostly composed of sphingolipids containing cis‐unsaturated sphingoid base, providing a ...
Takashi Higuchi, Saki Sugihara, Yohei Ishibashi, Kono Yushi, Hazuki Yamauchi, Motohiro Tani   +5 more
wiley   +1 more source

A comprehensive and universal approach for embryo testing in patients with different genetic disorders

Clinical and Translational Medicine, 2021
Background In vitro fertilization (IVF) with preimplantation genetic testing (PGT) has markedly improved clinical pregnancy outcomes for carriers of gene mutations or chromosomal structural rearrangements by the selection of embryos free of disease ...
Shuo Zhang, Caixia Lei, Junping Wu, Min Xiao, Jing Zhou, Saijuan Zhu, Jing Fu, Daru Lu, Xiaoxi Sun, Congjian Xu   +9 more
doaj   +1 more source

Developmental dyslexia: Genetic dissection of a complex cognitive trait [PDF]

, 2002
Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders.
DeFries, J., Fisher, S.
core   +2 more sources

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source

A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders. [PDF]

PLoS ONE, 2010
For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture.
Anthony J Deo, Ramiro Costa, Lynn E DeLisi, Rob DeSalle, Fatemeh Haghighi   +4 more
doaj   +1 more source

17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability

Reports, 2023
The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction.
Federica Saia, Adriana Prato, Caterina Angela Florio, Vincenzo Paolo Cutrone, Renata Rizzo   +4 more
doaj   +1 more source

Co-occurring risk factors for alcohol dependence and habitual smoking. [PDF]

, 2000
Smoking and alcohol dependence frequently occur together, and both behaviors are determined in part by genetic influences. The Collaborative Study on the Genetics of Alcoholism (COGA), which is investigating the genetic factors contributing to alcohol ...
Bierut, LJ, Hesselbrock, V, Reich, T, Schuckit, MA   +3 more
core  

GeneLink: a database to facilitate genetic studies of complex traits [PDF]

, 2004
BACKGROUND: In contrast to gene-mapping studies of simple Mendelian disorders, genetic analyses of complex traits are far more challenging, and high quality data management systems are often critical to the success of these projects.
Bailey-Wilson, Joan E, Baxevanis, Andreas D, Duggal, Priya, Freas-Lutz, Diana, Gildea, Derek, Gillanders, Elizabeth M, Ibay, Grace, Jones, Mary Pat, Klein, Alison P, Masiello, Anthony, Trent, Jeffrey M, Trout, Ken, Umayam, Lowell, Wolfsberg, Tyra G   +13 more
core   +2 more sources

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan, Stephanie A. Chu, Suvi Häkkinen, Liwen Zhang, David McFall, Jonathan D. Rohrer, Jesse A. Brown, Alex J. Lee, Kristen Fernhoff, Lorenzo Pasquini, Katherine P. Rankin, Maria Luisa Mandelli, Maria Luisa Gorno‐Tempini, Jennifer S. Yokoyama, Virginia E. Sturm, Brian Appleby, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Tatiana Foroud, Daniel H. Geschwind, Nupur Ghoshal, Neill R. Graff‐Radford, Ging‐Yuek Robin Hsiung, Eric J. Huang, Edward Huey, Kejal Kantarci, Irene Litvan, Ian R. Mackenzie, Mario F. Mendez, Chiadi U. Onyike, Leonard Petrucelli, Eliana Marisa Ramos, Erik D. Roberson, Julio C. Rojas, Maria Carmela Tartaglia, Arthur W. Toga, Sandra Weintraub, Leah K. Forsberg, Hilary W. Heuer, Brad F. Boeve, Adam L. Boxer, Howard J. Rosen, Bruce L. Miller, Fermin Moreno, William W. Seeley, Suzee E. Lee, on behalf of the ALLFTD Consortium   +46 more
wiley   +1 more source