Results 151 to 160 of about 724,276 (304)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

A case of breathlessness and unexpected antibodies: stating the obvious. [PDF]

Breathe (Sheff)
Dimeas IE, Perlepe G, Kirgou P, McCarthy C, Daniil Z.   +4 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Unifying non-Markovian dynamics and agent heterogeneity in scalable stochastic networks. [PDF]

Nat Commun
Pélissier A, Phan M, Le Bail D, Beerenwinkel N, Rodríguez Martínez M.   +4 more
europepmc   +1 more source

Thermally Controlled Chiral Supramolecular Polymorphism in Water

Angewandte Chemie International Edition, EarlyView.
Using an amphiphilic oligo(phenyleneethynylene) derivative, we establish LCST‐coupled chirality as a strategy to regulate thermoresponsive supramolecular polymorphism in water. At room temperature, AggI forms discrete assemblies that transform into elongated helical fibers (AggII) near the LCST and subsequently to sheet‐like structures (AggIII) at ...
Zulema Fernández, Yongsheng Li, Daniel Martínez, Julia Terlau, Myongsoo Lee, Bartolomé Soberats, Gustavo Fernández   +6 more
wiley   +1 more source

Clinical relevance of mosaic variants detected by exome sequencing. [PDF]

J Allergy Clin Immunol
Ghosh R, Fazal Z, Oler AJ, Tokita MJ, Lewis KL, Paul AJ, Schmitz EG, Saucier N, Yan J, Kamen M, Seifert BA, NIAID Centralized Sequencing Program,, Klion AD, Khoury P, Delmonte OM, Notarangelo LD, Freeman AF, Zerbe CS, Uzel G, Metcalfe DD, Komarow HD, Carter MC, McDermott DH, Murphy PM, Olivier KN, Fuss I, Strober W, Rao VK, Bergerson JRE, Almeida de Jesus A, Goldbach-Mansky R, Al-Herz W, Holland SM, Cooper MA, Similuk MN, Walkiewicz MA.   +35 more
europepmc   +1 more source

Magnetron Sputtering Synthesis of La‐Doped BiFeO3 Thin Films and Enhanced Exchange Bias in CoFeB/Bi1‐xLaxFeO3 Heterostructures

Advanced Physics Research, EarlyView.
This study explores the epitaxial growth of high‐quality La‐doped BiFeO3 (BLFO) thin films at 550 °C using magnetron sputtering. The films exhibit good ferroelectric properties and low leakage current. A BLFO/CoFeB heterostructure is constructed, achieving an exchange bias field exceeding the coercive field at room temperature.
Zhiqin Zhou, Ligang Bai, Chen Qi, Xiaoyang Lin, Ivair Aparecido dos Santos, Gustavo Sanguino Dias, Luiz Fernanado Cótica, Weisheng Zhao, Yanxue Chen, Tianxiao Nie, Guodong Wei   +10 more
wiley   +1 more source

Complete genome sequence of Zoysia mosaic virus from Japan. [PDF]

Microbiol Resour Announc
Neriya Y, Ringeera KH, Nishigawa H.
europepmc   +1 more source

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

The Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li, Mike Schindler, Martha Paskin, Venkata A. Surapaneni, Elliott Scott, Sabine Hauert, Nicholas Payne, David E. Cade, Jeremy A. Goldbogen, Frederik H. Mollen, Daniel Baum, Sean Hanna, Mason N. Dean   +12 more
wiley   +1 more source