Results 111 to 120 of about 6,776,369 (200)

The Drosophila Neuroblasts: A Model System For Human Ribosomopathies [PDF]

, 2019
This dissertation describes the use of Drosophila neuroblasts (NBs) to model human ribosomopathies; the overall goal is to understand why specific stem cell and progenitor cell populations are the primary targets in nucleolar stress as seen in the ...
Baral, Sonu Shrestha
core   +2 more sources

Rapid generation of hypomorphic mutations [PDF]

, 2017
Hypomorphic mutations are a valuable tool for both genetic analysis of gene function and for synthetic biology applications. However, current methods to generate hypomorphic mutations are limited to a specific organism, change gene expression ...
Arthur, Laura L, Chalker, Douglas L, Chung, Joyce J, Djuranovic, Sergej, Grbic, Vojislava, Green, Rachel, Jankirama, Preetam, Keefer, Kathryn M, Kolotilin, Igor, Menassa, Rima, Pavlovic-Djuranovic, Slavica, Skeath, James B, true, Heather L   +12 more
core   +2 more sources

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Baldini, A, Fuchs, JC, Linden, JF, Tucker, AS   +3 more
core  

Unveiling a cuproptosis-related risk model and the role of FARSB in hepatocellular carcinoma

Heliyon
Background: Cuproptosis, a type of regulated cell death that was recently identified, has been linked to the development of a variety of diseases, among them being cancers.
Junlin Duan, Xuan Zhang, Jingyu Xu, Jun Liu, Hetong Zhao   +4 more
doaj   +1 more source

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]

, 2015

core   +1 more source

An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation [PDF]

, 2006
Baxter, E. Joanna, Campbell, Peter J., Culligan, Dominic A., Fourouclas, Nasios, Green, Anthony R., Huntly, Brian J. P., Li, Juan, Munro, Laura R., Roberts, Ian, Scott, Linda M., Swanton, Soheila, Vassiliou, George S.   +11 more
core  

CD14^- CD16⁺ monocyte PD-L1 prevents early tuberculosis progression and constrains reactivation under immune checkpoint therapy. [PDF]

Front Cell Infect Microbiol
Wang W, Liu C, Wu W, Yi Z, Shen J.
europepmc   +1 more source

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome. [PDF]

HGG Adv
Ferraro F, Kühn N, Rots D, van der Linde HC, Mohseni B, van Unen L, Drost M, Nellist M, Koekkoek M, Schot R, de Gier HW, Pleumeekers M, Barakat TS, Kleefstra T, Weerts M, van Dooren MF, van Ham TJ.   +16 more
europepmc   +1 more source

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Proceedings of the National Academy of Sciences of the United States of America, 1997
C. Wise, Lydia C. Chiang, W. Paznekas, Mridula Sharma, Maurice M. Musy, J. Ashley, M. Lovett, E. Jabs   +7 more
semanticscholar   +1 more source

Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins [PDF]

, 2015
openaire   +1 more source