Results 51 to 60 of about 1,169,039 (310)

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

HBI: a hierarchical Bayesian interaction model to estimate cell-type-specific methylation quantitative trait loci incorporating priors from cell-sorted bisulfite sequencing data

Genome Biology
Methylation quantitative trait loci (meQTLs) quantify the effects of genetic variants on DNA methylation levels. However, most published studies utilize bulk methylation datasets composed of different cell types and limit our understanding of cell-type ...
Youshu Cheng, Biao Cai, Hongyu Li, Xinyu Zhang, Gypsyamber D’Souza, Sadeep Shrestha, Andrew Edmonds, Jacquelyn Meyers, Margaret Fischl, Seble Kassaye, Kathryn Anastos, Mardge Cohen, Bradley E. Aouizerat, Ke Xu, Hongyu Zhao   +14 more
doaj   +1 more source

Developmental Disorders in Children Recently Diagnosed With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neurocognitive deficits in adult survivors of childhood cancer are well established, but less is known about developmental disorders (DD) arising shortly after cancer diagnosis. Using 2016–2019 linked Ohio cancer registry and Medicaid data, we compared DD among 324 children with cancer and 606,913 cancer‐free controls.
Jamie Shoag, Long Vu, Ritika Miryala, Jeffrey M. Albert, Molly McVoy, Siran M. Koroukian   +5 more
wiley   +1 more source

Characterizing Parental Concerns About Lasting Impacts of Treatment in Children With B‐Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background B‐acute lymphoblastic leukemia (B‐ALL) is the most common pediatric cancer, and while most children in high‐resource settings are cured, therapy carries risks for long‐term toxicities. Understanding parents’ concerns about these late effects is essential to guide anticipatory support and inform evolving therapeutic approaches ...
Kellee N. Parker, Sarah W. Alexander, Lisa M. Jacola, Kimberly A. Buff, Kyobin Hwang, Elham Hashemi, Gregory Stoddard, Lindsay A. Jibb   +7 more
wiley   +1 more source

DELP Treatment on Vision and Retinal Microcirculation in Patients With Acute Ischemic Stroke: Report of Five Cases and Literature Review

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background The delipid extracorporeal lipoprotein filter from plasma (DELP) treatment can effectively reduce blood lipid, increase blood flow, and improve neurological deficits in patients with acute ischemic stroke (AIS). However, its effect on vision and retinal microcirculation in stroke patients has never been reported.
Ning Li, Ronghua Hong, Hua You, Feiping Xu, Qingjun Zhang, Yiwen Lin, Yuting Su, Danmei Lan, Lingjing Jin, Junhui She   +9 more
wiley   +1 more source

scClassify: sample size estimation and multiscale classification of cells using single and multiple reference

Molecular Systems Biology, 2020
Automated cell type identification is a key computational challenge in single‐cell RNA‐sequencing (scRNA‐seq) data. To capitalise on the large collection of well‐annotated scRNA‐seq datasets, we developed scClassify, a multiscale classification framework
Yingxin Lin, Yue Cao, Hani Jieun Kim, Agus Salim, Terence P Speed, David M Lin, Pengyi Yang, Jean Yee Hwa Yang   +7 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

scCTS: identifying the cell type-specific marker genes from population-level single-cell RNA-seq

Genome Biology
Single-cell RNA-sequencing (scRNA-seq) provides gene expression profiles of individual cells from complex samples, facilitating the detection of cell type-specific marker genes.
Luxiao Chen, Zhenxing Guo, Tao Deng, Hao Wu   +3 more
doaj   +1 more source

Type specimens of true bugs (Hemiptera: Heteroptera) housed in the Museu de Zoologia da Universidade de São Paulo, Brazil [PDF]

Papéis Avulsos de Zoologia
This paper provides a record of the type specimens of Heteroptera (Insecta: Hemiptera) housed in the Museu de Zoologia da Universidade de São Paulo, Brazil (MZUSP), with information on 65 primary types and 316 secondary types.
Renan Carrenho, Higor D.D. Rodrigues, Adriana Carneiro de Lima, Cristiano F. Schwertner   +3 more
doaj   +2 more sources

Time after time – circadian clocks through the lens of oscillator theory

FEBS Letters, EarlyView.
Oscillator theory bridges physics and circadian biology. Damped oscillators require external drivers, while limit cycles emerge from delayed feedback and nonlinearities. Coupling enables tissue‐level coherence, and entrainment aligns internal clocks with environmental cues.
Marta del Olmo, Carolin Ector, Hanspeter Herzel   +2 more
wiley   +1 more source