Results 51 to 60 of about 1,682 (175)
Life, 2022 The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations.
Bernardette Estandia-Ortega +5 more
doaj +1 more source
Untangling Inositol (Pyro)Phosphate Biology Through Emerging Technologies
Advanced Science, Volume 13, Issue 50, 7 September 2026.Inositol (pyro)phosphates represent a vital class of intracellular messengers that govern multiple biological processes. The last decade has experienced a surge of interest in the functions of this class of signaling molecules, primarily due to the introduction of several innovative analytical technologies.
Adolfo Saiardi +5 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance.
Jing Liu +8 more
doaj +1 more source
DD-TCOF1 expression is regulated by the concentration of Shield-1.
, 2014 (A–C) The Shield-1 concentration- and time-dependent expression of TCOF1 was examined as described in Materials and Methods. Although the EtOH vehicle was kept constant as described, a control without EtOH vehicle was also included for the parental wild ...
Benhur Lee (78126) +4 more
core +1 more source
TCOF1 expression in stable WDR43 shRNA cell lines.
, 2014 (A–O) IF analysis of TCOF1 (red) localization in control shRNA (A–D, M) and human WDR43 shRNA (E–L, N, O) stable HeLa cell lines. All cells were positive for shRNA expression (green) and DAPI stained nuclei (blue).
Kathleen L. McCann (143114) +10 more
core +1 more source
, 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 +7 more
core +1 more source
Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome
Experimental and Therapeutic Medicine, 2018 Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear.
Zhiqiang, Yan +7 more
openaire +3 more sources
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome [PDF]
Molecular Syndromology, 2011 Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the <i>TCOF1</i> gene and follows autosomal dominant inheritance. Recently, mutations in the <i>POLR1D </i>and<i> POLR1C</i> genes have also been identified to cause TCS ...
Beygo, J +8 more
openaire +2 more sources
A CASE OF TREACHER COLLINS SYNDROME
Balkan Journal of Medical Genetics, 2013 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S. +5 more
doaj +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third ...
Wei Shin Chou +5 more
doaj +1 more source