Results 181 to 190 of about 91,462 (268)

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Parental Decision‐Making and Pregnancy Outcomes After Increased First‐Trimester Nuchal Translucency: A 12‐Year Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe diagnostic trajectories and parental decision‐making following increased first‐trimester nuchal translucency (NT), according to NT thickness. Method This 12‐year retrospective cohort study was conducted at a French tertiary Prenatal Diagnosis and Fetal Medicine Center and included 316 singleton pregnancies with first ...
Benjamin Birene, Jean‐Paul Bory, Eloi Dondeyne, Anne Charbonneau, Clémence Jacquin, Emilie Landais, Mohamed Dakin, Olivier Graesslin   +7 more
wiley   +1 more source

Detection of structural DNA variants in medulloblastomas using optical genome mapping. [PDF]

Acta Neuropathol Commun
Kubon N, Bălan M, Koppstein D, Praeger S, Wolter M, Ebert P, Pauck D, Felsberg J, Beez T, Picard D, Remke M, Reifenberger G.   +11 more
europepmc   +1 more source

Dehydrocostus Lactone Suppresses Hepatocellular Carcinoma by Inhibiting Protein Tyrosine Kinase‐7 Mediated β‐Catenin Signaling

Phytotherapy Research, EarlyView.
Schematic summary of the experimentally supported mechanism of DHL in hepatocellular carcinoma. Dehydrocostus lactone (DHL), a sesquiterpene lactone derived from Aucklandia lappa, directly engages protein tyrosine kinase 7 (PTK7), as supported by molecular docking, CETSA, and DARTS assays.
Xiwen Fan, Junhui Li, Yu Qiao, Yuwen Zhong, Xuecheng Ge, Yaoshuai Zhang, Zishu Wang, Feng Qian, Weixin Ren   +8 more
wiley   +1 more source

Major human schistosome species express different glycans with immunological and diagnostic implications. [PDF]

Nat Commun
Petralia LMC, van Diepen A, Zhang T, Kildemoes AO, Veldhuizen T, Nguyen DL, Smit CH, Kremsner PG, Wuhrer M, Foster JM, Hokke CH.   +10 more
europepmc   +1 more source

Ultrasensitive MicroRNA Detection Combining Reduced Graphene Oxide Electrolyte‐Gated Transistors and Machine Learning

Small, EarlyView.
We developed an ultrasensitive and highly selective biosensor by integrating bio‐functionalized reduced graphene oxide (rGO) electrolyte‐gated transistors (EGTs) and machine learning (ML) to detect miRNAs (miR‐34a, miR‐34b, and miR‐34c) associated with cancer and neurological disorders.
Ana Vitória Ferreira Deleigo, Gabrielle Coelho Lelis, Maria Luisa Braunger, Stefano Casalini, Yasmin Watanabe, Gabriel Ravanhani Schleder, Wilson Tiago Fonseca, Rafael Furlan de Oliveira   +7 more
wiley   +1 more source

TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer. [PDF]

Cell Commun Signal
Grzanka M, Popławski P, Wiśniewski JR, Iwanicka-Nowicka R, Kossowska H, Koblowska M, Rybicka B, Białas A, Piekiełko-Witkowska A.   +8 more
europepmc   +1 more source

A Droplet‐Microarray Platform for Multiplex Profiling of Breast Cancer Exosome Subtypes in Patients’ Blood Plasma Samples

Small, EarlyView.
This study presents a droplet‐microarray platform integrated with a DNase I‐assisted MoS2 FRET aptasensor for multiplexed profiling of breast cancer subtypes’ exosomes from patients’ plasma. By targeting HER2, MUC1, and CD44, the system enables sensitive detection and accurate discrimination of luminal A, HER2‐positive, and triple‐negative subtypes ...
Yi Liu, Ruolin Zhang, Jialei Song, Meng Xiao, Yue Meng, Zhiyang Li, Jingyu Shi, Yunyan Tai, Bing Gu, Mo Yang   +9 more
wiley   +1 more source