Results 171 to 180 of about 900,745 (376)

High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. [PDF]

, 2009
Chromosome 17q11-q21 is a region of the genome likely to harbor susceptibility to autism (MIM(209850)) based on earlier evidence of linkage to the disorder.
Cantor, RM, Geschwind, DH, Merriman, B, Nelson, SF, Stone, JL, Strom, SP, Ten Bosch, JR   +6 more
core   +3 more sources

TP53‐Mutated Myeloid Neoplasms: 2024 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, EarlyView.
ABSTRACT Alterations in the tumor suppressor gene TP53 are common in human cancers and are associated with an aggressive nature. Approximately 8%–12% of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) harbor TP53 mutations (TP53mut) and present immense challenges due to inherent chemoresistance and poor outcomes.
Mithun Vinod Shah, Daniel A. Arber, Devendra K. Hiwase   +2 more
wiley   +1 more source

Close association between A118G single nucleotide polymorphism and opioid, alcohol, and nicotine dependence

Psychology Research and Behavior Management, 2012
Shailendra KapoorRichmond, VA, USAI read with great interest the article by Cosci et al in a recent issue of your journal.1 The article provides for highly interesting reading and is very thought-provoking. Interestingly, the past few years have seen the
Kapoor S
doaj  

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Identification of pyroptosis‐related gene prognostic signature in head and neck squamous cell carcinoma

Cancer Medicine, Volume 11, Issue 24, Page 5129-5144, December 2022., 2022
We built and verified a risk model for HNSCC prognosis using 7 pyroptosis‐related signature genes, which could facilitate the implementation of the HNSCC treatment. Abstract Background Head and neck squamous cell carcinoma (HNSCC) is a life‐threatening disease with poor prognosis.
Zhanzhan Li, Lin Shen, Yanyan Li, Liangfang Shen, Na Li   +4 more
wiley   +1 more source

Association Between Polygenic Risk and Symptom Severity Change After Cognitive Behavioral Therapy for Obsessive‐Compulsive Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman, John Wallert, Matthew Halvorsen, Bjorn Roelstraete, Elles de Schipper, Nora I. Strom, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert, David Mataix‐Cols, Christian Rück, James J. Crowley   +39 more
wiley   +1 more source

Fabrication and Functionalisation of Nanocarbon‐Based Field‐Effect Transistor Biosensors

ChemBioChem, Volume 23, Issue 23, December 5, 2022., 2022
Next‐generation diagnostics: Nanocarbon‐based field effect transistors (NC‐FETs) use incoming target analytes to impart a gating effect on conductance. Here, we review the operational mechanisms behind NC‐FETs, the fabrication and functionalisation of NC‐FETs with receptor biomolecules and downstream biosensing applications.
Chang‐Seuk Lee, Rebecca E. A. Gwyther, Mark Freeley, Dafydd Jones, Matteo Palma   +4 more
wiley   +1 more source

Single nucleotide polymorphisms that modulate microRNA regulation of gene expression in tumors [PDF]

arXiv, 2018
Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) associated with trait diversity and disease susceptibility, yet the functional properties of many genetic variants and their molecular interactions remains unclear.
arxiv  

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

Unifying genetic association tests via regression: Prospective and retrospective, parametric and nonparametric, and genotype‐ and allele‐based tests

Canadian Journal of Statistics, Volume 50, Issue 4, Page 1321-1338, December 2022., 2022
Abstract Genetic association analysis, which evaluates relationships between genetic markers and complex, heritable traits, is the basis of genome‐wide association studies. The many association tests that have been developed can generally be classified as prospective versus retrospective, parametric versus nonparametric, and genotype‐ versus allele ...
Lin Zhang, Lei Sun
wiley   +1 more source