Results 131 to 140 of about 451,573 (269)

Increased frequency of the null allele at the complement C4b locus in autism [PDF]

open access: bronze, 1991
R P Warren   +6 more
openalex   +1 more source

Autologous Peripheral Vγ9Vδ2 T Cell Synergizes with αβ T Cell Through Antigen Presentation and BTN3A1 Blockade in Immunotherapy of Cervical Cancer

open access: yesAdvanced Science, EarlyView.
This study provides proof‐of‐concept evidence showing that through direct killing, antigen presentation, and competitively binding to BTN3A1, Vγ9Vδ2 T cells amplified from cervical cancer (CC) patients can synergize with αβ T cells to exert anti‐CC function both in vitro and in vivo.
Min Wu   +21 more
wiley   +1 more source

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023
Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton   +5 more
wiley   +1 more source

Performance of Liquid Biopsy‐Based Multi‐Omics Biomarkers for Early Detection of Gynecological Malignancies: A Prospective Study (PERCEIVE‐I)

open access: yesAdvanced Science, EarlyView.
Following a comparative analysis of omics‐based cancer detection models, a novel liquid biopsy‐based multi‐omics combined model is developed for the early detection of gynecological malignancies. By integrating cell‐free DNA methylation and tumor protein markers, the combined model demonstrates high specificity and sensitivity and is uniquely designed ...
Zheng Feng   +17 more
wiley   +1 more source

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023
Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker   +17 more
wiley   +1 more source

A novelH19/HhaI RFLP and its allele frequency in the Japanese [PDF]

open access: bronze, 1994
Tadashi Matsumoto   +3 more
openalex   +1 more source

Roles of Kdm6a and Kdm6b in Regulation of Mammalian Neural Regeneration

open access: yesAdvanced Science, EarlyView.
This study reveals that Kdm6a plays key roles in repressing either peripheral nervous system (PNS) or central nervous system (CNS) axon regeneration, whereas Kdm6b is not involved in regulating CNS axon regeneration. Moreover, both demethylases are able to regulate CNS neuronal survival after injury, but with non‐overlapping mechanisms.
Shu‐Guang Yang   +13 more
wiley   +1 more source

Predicting invasion risk of grasses in novel environments requires improved genomic understanding of adaptive potential

open access: yes, 2022
American Journal of Botany, Volume 109, Issue 12, Page 1965-1968, December 2022.
Emily S. Bellis   +3 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin   +47 more
wiley   +1 more source

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