Results 141 to 150 of about 1,573,429 (399)

Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity [PDF]

, 2001
Joseph D. Buxbaum, Jeremy M. Silverman, Christopher J. Smith, Mario Kilifarski, Jennifer Reichert, Eric Hollander, Brian Lawlor, Michael Fitzgerald, David A. Greenberg, Kenneth L. Davis   +9 more
openalex   +1 more source

De-erosion of X chromosome dosage compensation by the editing of XIST regulatory regions restores the differentiation potential in hPSCs

, 2022
Nami Motosugi, Akiko Sugiyama, Chisa Okada, Asako Otomo, Akihiro Umezawa, Hidenori Akutsu, Shinji Hadano, Atsushi Fukuda   +7 more
openalex   +1 more source

Naked cuticle is essential for Drosophila wing development beyond Wingless signaling

FEBS Open Bio, EarlyView.
Naked cuticle (Nkd), a Wnt signaling inhibitor, assumes extensive roles in Drosophila wing development. Overexpressing Nkd causes smaller, crumpled wings, while also perturbing multiple signaling pathways and developmental genes. A specific region (R1S) is critical for Nkd's function as a signaling integrator, offering new insights for studying its ...
Rui Wang, Ping Wang
wiley   +1 more source

Chromosomal characterization of Hyla bischoffi and Hyla guentheri (Anura, Hylidae)

Phyllomedusa: Journal of Herpetology, 2004
Hyla bischoffi and H. guentheri share some morphological and call characters with the H. pulchella and H. polytaenia groups. The inclusion of these two species in one of these two groups is still controversial. This study showed that both species have 2n
Simone C. Raber, Klélia A. Carvalho, Paulo C. A. Garcia, Giovanni Vinciprova, Shirlei M. Recco-Pimentel   +4 more
doaj  

The Human Intrinsic Factor-Vitamin B12 Receptor,Cubilin: Molecular Characterization and Chromosomal Mapping of the Gene to 10p Within the Autosomal Recessive Megaloblastic Anemia (MGA1) Region [PDF]

, 1998
Renata Kozyraki, Mette Kristiansen, Asli Silahtaroglu, Claus Hansen, Christian Jacobsen, Niels Tommerup, P Verroust, Søren K. Moestrup   +7 more
openalex   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Expression and chromosomal localization of KIAA0369, a putative kinase structurally related to Doublecortin [PDF]

, 1998
Yoshihiro Omori, Mikio Suzuki, Kouichi Ozaki, Yosuke Harada, Yusuke Nakamura, Eiichi Takahashi, T. Fujiwara   +6 more
openalex   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

FEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz, Bart Geverts, Johan A. Slotman, Andrea Sacchetti, Stefan Prekovic, Martin E. van Royen, Adriaan B. Houtsmuller   +6 more
wiley   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source