Results 81 to 90 of about 1,682 (175)

Toward Next‐Generation Teratology: Understanding Developmental Vulnerability Through Evolutionary and Comparative Genomics

Congenital Anomalies, Volume 66, Issue 1, January/February 2026.
ABSTRACT Teratology, the study of congenital anomalies, has developed from a descriptive discipline into a mechanistic science focused on the proximate causes of developmental defects, meaning how such anomalies arise during development. However, a comprehensive understanding requires not only this mechanistic insight but also an evolutionary ...
Tetsuo Kon
wiley   +1 more source

Rps19R67∆ mutation creates a model of Diamond–Blackfan anemia and reveals downstream mediators of p53 pathway

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Diamond–Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosomal proteins, including RPS19, a component of the 40S ribosomal subunit.
Juraj Kokavec, Tereza Turková, Björn Schuster, Jan Prochazka, František Spoutil, Kristína Jamrichová, Markéta Holečková, Karel Chalupský, Inken M. Beck, Jesús Ruberte, Matilde Vale, Lukáš Čermák, Tomáš Stopka, Radislav Sedlacek   +13 more
wiley   +1 more source

Neural progenitor cells in Tcof1^+/− embryos exhibit mitotic defects.

, 2012
(A) Immunostaining of E10.5–E16.5 embryonic forebrains using a pH 3 antibody (red). Arrowheads indicate scattered progenitor cells in the ventricular and subventricular zones of the telencephalon in E14.5 Tcof1+/− embryos.
Paul A. Trainor (129368), Michael J. Dixon (174991), Jill Dixon (174981), Daisuke Sakai (174973)   +3 more
core   +1 more source

Additional file 4 of FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex

, 2022
Additional file 3: Fig. S2. Streptavidin agarose pull-down from U2OS cells stably expressing FGF12-SBP. A Western blotting of cell lysates of U2OS-FGF12-SBP and U2OS cells (control) to confirm FGF12-SBP expression.
Martyna Biadun (14149020), Daniel Krowarsch (14149017), Malgorzata Zakrzewska (14149026), Jacek Otlewski (14149023), Martyna Sochacka (14149008), Radoslaw Karelus (14149011), Lukasz Opalinski (14149014)   +6 more
core   +1 more source

Dynamic Proteome Landscape During Preimplantation Human Embryo Development and Trophectoderm Stem Cell‐Differentiation

PROTEOMICS, Volume 25, Issue 15, Page 72-89, August 2025.
ABSTRACT Embryo development involves fertilization of a mature ovum, which, after sequential cell divisions (2‐,4‐8‐cells and morula), undergoes differentiation into implantation competent blastocyst. The blastocyst comprises of inner cell mass surrounded by an outer layer of cells called the trophoblast (TSblast) that, upon attachment to the ...
Alin Rai, Qi Hui Poh, Hiroaki Okae, Takahiro Arima, Mehdi Totonchi, David W. Greening   +5 more
wiley   +1 more source

Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis

, 2013
Hirschsprung disease (HSCR) is a human congenital disorder, defined by the absence of ganglia from variable lengths of the colon. These ganglia comprise the enteric nervous system (ENS) and are derived from migratory neural crest cells (NCCs).
Dixon, Jill; id_orcid, Trainor, Paul A., Barlow, Amanda J., Dixon, Michael   +3 more
core   +1 more source

Additional file 6 of FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex

, 2022
Additional file 5: Fig. S4. PLA in HEK 293 cells lacking ectopic FGF12. Fluorescence images of in situ PLA using rabbit anti-FGF12 and mouse anti-NOLC1 or anti-TCOF1 antibody in HEK 293 cells.
Martyna Biadun (14149020), Daniel Krowarsch (14149017), Malgorzata Zakrzewska (14149026), Jacek Otlewski (14149023), Martyna Sochacka (14149008), Radoslaw Karelus (14149011), Lukasz Opalinski (14149014)   +6 more
core   +1 more source

Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.

PLoS Genetics, 2012
The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and ...
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor   +3 more
doaj   +1 more source

sj-docx-1-cpc-10.1177_10556656221125387 - Supplemental material for A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome

, 2022
Supplemental material, sj-docx-1-cpc-10.1177_10556656221125387 for A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome by Bin Yin, Yu-Ya Pang, Jia-Yu Shi, Yan-Song Lin, Jia-Lin Sun, Qian Zheng, Bing Shi and Zhong-
Yu-Ya Pang (13769378), Jia-Yu Shi (11647345), Qian Zheng (119404), Zhong-Lin Jia (11647348), Yan-Song Lin (13769381), Bing Shi (126231), Jia-Lin Sun (3358604), Bin Yin (120095)   +7 more
core   +1 more source

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

Nature Communications, 2016
The TCOF1 gene is mutated in Treacher Collin's syndrome, a congenital craniofacial syndrome. Here, the authors show that Tcof1loss-of-function results in oxidative stress induced DNA damage and neuroepithelial cell death, and addition of antioxidants to ...
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A. Trainor   +4 more
doaj   +1 more source