Results 101 to 110 of about 1,682 (175)

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

Balkan Journal of Medical Genetics
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner.
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A   +8 more
doaj   +1 more source

Tcof1 deficiency affects the number of Pax6-positive apical progenitors and Tbr2-positive basal progenitor cells in the telencephalon.

, 2012
(A) Immunofluorescence detection of Pax6-positive progenitor cells (green) and anti-phospho-Histone H3 antibody (red) mitotic cells in the telencephalon of E14.5 wild-type and Tcof1+/− embryos. Tissue sections were counterstained with DAPI (blue).
Paul A. Trainor (129368), Michael J. Dixon (174991), Jill Dixon (174981), Daisuke Sakai (174973)   +3 more
core   +1 more source

Untangling Zebrafish Genetic Annotation: Addressing Complexities and Nomenclature Issues in Orthologous Evaluation of TCOF1 and NOLC1

Treacher Collins syndrome (TCS) is a genetic disorder afecting facial development, primarily caused by mutations in the TCOF1 gene. TCOF1, along with NOLC1, play important roles in ribosomal RNA transcription and processing.
Coux, Gabriela, Falcone Ferreyra, María Lorena, Aybar, Manuel Javier, Petrich, Julieta, Hill-terán, Guillermina María Elena   +4 more
core   +1 more source

Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse

, 2010
Conductive hearing loss (CHL) is one of the most common forms of human deafness. Despite this observation, a surprising gap in our understanding of the mechanisms underlying CHL remains, particularly with respect to the molecular mechanisms underlying ...
Linden, Jennifer, Amin, Susan, Richter, Carol A., Dixon, Jill; id_orcid, Tucker, Abigail S.; id_orcid, Tucker, Abigail S., Dixon, Jill, Dixon, Michael J.   +7 more
core   +1 more source

Mutation in exon 13 of the TCOF1 gene in patient with Treacher Collins syndrome [PDF]

, 2016
Treacher Collins Syndrome (TCS) is associated with an abnormal differentiation of the first and the second pharyngeal arch during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries.
Marszałek-Kruk, Bożena Anna, Kruszyński, Wojciech, Zatoń-Dobrowolska, Magdalena, Moska, Magdalena   +3 more
core  

TCOF1 Gene [PDF]

, 2020
openaire   +1 more source

CRISPR/Cas9 allows efficient and complete endogenous knock-in of DD-tagged TCOF1.

, 2014
(A) The scheme for CRISPR/Cas9-mediated homologous recombination to insert antibiotic resistance and a DD tag to the N-terminus of TCOF1 is shown. The genomic sequence used in the donor plasmid homology arms is shown in blue. (B) PCR genotyping to detect
Benhur Lee (78126), Sohui T. Won (553572), Wojciech Bartkowski (553573), Arnold Park (237682), Mickey Pentecost (237685)   +4 more
core   +1 more source

TCOF1 wt Allele [PDF]

, 2020
openaire   +1 more source

Genotype-phenotype associations in microtia: a systematic review

Orphanet Journal of Rare Diseases
Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi   +6 more
doaj   +1 more source

Síndrome Treacher-Collins. Presentación de caso.

Medimay, 2015
El Síndrome Treacher-Collins es un trastorno craneofacial congénito que se produce por la mutación del gen TCOF1, localizado en el cromosoma 5q31-33.
Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang   +1 more
doaj   +2 more sources