Results 81 to 90 of about 2,522,918 (175)

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients [PDF]

, 2009
Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene.
Ornelas, Camila C., Camargo, Anamaria A., Moura, Ricardo, Gordonos, Alessandra Splendore, Masotti, Cibele Luiza, Felix, Temis Maria, Alonso, Nivaldo, Bueno, Maria Rita Passos   +7 more
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Tcof1 heterozygous mutant mice show small brain.

, 2012
(A) Dorsal view of wild-type (+/+) and Tcof1 heterozygous mutant (+/−) brains of P14 mice. (B) Brain weight per body weight and body weight of wild-type (n = 6) and Tcof1+/− mice (n = 6). (C) Coronal sections of wild-type (+/+) and Tcof1 heterozygous (+/−
Paul A. Trainor (129368), Michael J. Dixon (174991), Jill Dixon (174981), Daisuke Sakai (174973)   +3 more
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Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.

, 1997
Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region. We report the isolation of the entire mouse Tcof1 coding
Gridley, T, Jabs, E W, Paznekas, W A, Zhang, N   +3 more
core   +1 more source

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

, 2006
Neural crest cells are a migratory cell population that give rise to the majority of the cartilage, bone, connective tissue, and sensory ganglia in the head.
Crane, Jennifer, Sandell, Lisa L., Rey, Jean Philippe, Jayasinghe, Sachintha M., Dixon, Jill; id_orcid, Trainor, Paul A., Dixon, Michael J., Jones, Natalie C.   +7 more
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Additional file 7 of FGF12 is a novel component of the nucleolar NOLC1/TCOF1 ribosome biogenesis complex

, 2022
Additional file 6: Fig. S5. Efficiency of NOLC1, TCOF1 and FGF12 knock-down in U2OS-FGF12-mGFP-myc cells. Western blotting analysis of cell lysates of U2OS-FGF12-mGFP-myc cells treated with siRNA against NOLC1, TCOF1 or ...
Martyna Biadun (14149020), Daniel Krowarsch (14149017), Malgorzata Zakrzewska (14149026), Jacek Otlewski (14149023), Martyna Sochacka (14149008), Radoslaw Karelus (14149011), Lukasz Opalinski (14149014)   +6 more
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The Role of Mutations on Gene TCOF1, in Treacher Collins Syndrome

American Journal of Surgery and Clinical Case Reports, 2021
Asadi S, Zarei Y, Housseini HS, Jamshidi PJ   +3 more
openaire   +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

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes [PDF]

, 2020
Treacher Collins syndrome (TCS: OMIM 154500) is an autosomal dominant craniofacial disorder belonging to the heterogeneous group of mandibulofacial dysostoses.ObjectiveTo investigate four Treacher Collins syndrome patients of the Sgaw Karen family living
Chumpol Ngamphiw, Sissades Tongsima, Intachai, Worrachet, Piranit Nik Kantaputra, Natalina Quarto, Ngamphiw, Chumpol, Tripuwabhrut, Kanich, Worrachet Intachai, Quarto, Natalina, Kanich Tripuwabhrut, Kantaputra, Piranit Nik, Sonsuwan, Nuntigar, Tongsima, Sissades, Carlson, Bruce M., Bruce M. Carlson, Nuntigar Sonsuwan   +15 more
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Supplementary Material for: First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

, 2017
Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the TCOF1 gene and follows autosomal dominant inheritance. Recently, mutations in the POLR1D and POLR1C genes
Prager B. (4131019), Wieczorek D. (4130404), Buiting K. (4131025), Beygo J. (4131028), Lüdecke H.-J. (4131031), Lohmann D.R. (4131034), Lich C. (4131037), Seland S. (4131022), Hehr U. (4131040)   +8 more
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Molecular analysis of the TCOF1 gene in Treacher Collins syndrome patients

, 2002
A síndrome de Treacher Collins (STC) é um distúrbio do desenvolvimento craniofacial de herança autossômica dominante causada por mutações no gene TCOF1, localizado no cromossomo 5 (5q32).
Splendore, Alessandra Della Casa, Alessandra Della Casa Splendore   +1 more
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