Results 121 to 130 of about 337,686 (261)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Bioinformatics' approaches to detect genetic variation in whole genome sequencing data [PDF]

, 2010
Current genetic marker repositories are not sufficient or even are completely lacking for most farm animals. However, genetic markers are essential for the development of a research tool facilitating discovery of genetic factors that contribute to ...
Kerstens, H.H.D.
core  

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Wheat improvement through advances in single nucleotide polymorphism (SNP) detection and genotyping with a special emphasis on rust resistance [PDF]

Key messageSingle nucleotide polymorphism (SNP) markers in wheat and their prospects in breeding with special reference to rust resistance.AbstractSingle nucleotide polymorphism (SNP)-based markers are increasingly gaining momentum for screening and ...
Kadirvel, Palchamy, Subramaniam, Geethanjali, Periyannan, Sambasivam   +2 more
core   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Development and Characterization of a Single Nucleotide Polymorphism Genotyping Panel for Duck Populations

Animals
Single nucleotide polymorphism (SNP) genotyping panels for domesticated ducks are currently lacking, despite their importance for genetic diversity studies and genomic selection. We analyzed whole-genome sequencing data from 74 ducks. To obtain a 40K SNP
Yeongkuk Kim, Jaegwon Kim, Eunjin Cho, Seona Kwon, Minjun Kim, Hyojun Choo, Jun Heon Lee, Dongwon Seo, Jung-Woo Choi, Won-Hyong Chung   +9 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Knowledge-based SNP selection in genotyping data.

, 2013
Knowledge-based SNP selection in genotyping data.
Seang-Mei Saw (159451), Jiang Liu (197069), Chee Keong Kwoh (330496), Tien Yin Wong (417969), Yanwu Xu (422213), Damon Wing Kee Wong (422214), Zhuo Zhang (72795)   +6 more
core   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes, Lukas Henning, Karen M. J. van Loo, Rainer Surges, Susanne Schoch, Albert J. Becker, Julika Pitsch   +6 more
wiley   +1 more source