Results 91 to 100 of about 2,882,218 (304)

SNPs and indels identified by low-coverage whole-genome sequencing (WGS-4x) and whole exome sequencing (WES) amongst South Asians.

open access: yes, 2014
SNPs and indels identified by low-coverage whole-genome sequencing (WGS-4x) and whole exome sequencing (WES) amongst South Asians.
James Abbott (614010)   +36 more
core   +1 more source

Self‐Assembling Peptide‐Adjuvant Conjugate (SaPAC) Platform for Precision Cancer Immunotherapy

open access: yesAdvanced Science, EarlyView.
A self‐assembling peptide–adjuvant conjugate links neoantigens to TLR7 agonism, forming cationic nanoparticles that enhance lymph‐node retention, dendritic‐cell activation, and antitumor T‐cell immunity. This chemically defined platform shows how synchronized antigen and innate stimulation can be adapted across melanoma, bladder cancer, and triple ...
Yang‐Fan Wu   +15 more
wiley   +1 more source

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients

open access: yesIranian Journal of Public Health, 2016
Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals.
Shaghayegh SABRI   +2 more
doaj  

Summary of sequencing results from whole genome and exome sequencing data.

open access: yes, 2014
Summary of sequencing results from whole genome and exome sequencing data.
Pongsathorn Chaiyasap (580996)   +5 more
core   +1 more source

The GENCODE exome: sequencing the complete human exome [PDF]

open access: yes, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits.
Palta, P   +42 more
core   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

open access: yesAdvanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong   +15 more
wiley   +1 more source

Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD

open access: yesHepatology Communications, 2018
Nonalcoholic fatty liver disease (NAFLD) is a heterogeneous disease with highly variable outcomes. Patients with simple steatosis typically experience a benign course, whereas those with more advanced liver injury, nonalcoholic steatohepatitis (NASH ...
Sarah E. Kleinstein   +6 more
doaj   +1 more source

Top ten most strongly associated individual variants from whole exome sequencing.

open access: yes, 2022
Top ten most strongly associated individual variants from whole exome sequencing.
Pingxing Xie (290131)   +9 more
core   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

open access: yesAdvanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian   +14 more
wiley   +1 more source

Structural Control of Stromal‐Immune Coupling by COL24A1 Underlies Pregnancy Maintenance

open access: yesAdvanced Science, EarlyView.
COL24A1 emerges as a collagen‐associated regulator of maternal‐fetal interface homeostasis. Its deficiency promotes a maladaptive TIMP1‐high stromal state, impaired ECM turnover, collagen accumulation, and stromal–immune dysregulation, contributing to pregnancy loss.
Teng Wu   +12 more
wiley   +1 more source

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