Results 91 to 100 of about 1,682 (175)
Regulación de TCOF1 por CNBP: posibles implicancias en el Síndrome de Treacher Collins
, 2022 Las mutaciones en el gen TCOF1, que codifica una proteína nucleolar involucrada en el metabolismo del ARN ribosomal, explican más del 80% de los casos de Síndrome de Treacher Collins (TCS, de sus siglas en inglés), una enfermedad congénita de ...
Gil Rosas, Mauco Lucas
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Science ProgressTreacher Collins syndrome (TCS) is a rare congenital craniofacial disorder, typically inherited as an autosomal dominant condition. Here, we report on a family in which germline mosaicism for TCS was likely present.
Xinmiao Fan +4 more
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The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation [PDF]
, 2005 Treacher Collins syndrome (TCS) is characterized by defects in craniofacial development, which results from mutations in the TCOF1 gene. TCOF1 encodes the nucleolar phosphoprotein treacle, which interacts with upstream binding factor (UBF) and affects ...
Rolando B. So +11 more
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Journal of Clinical and Translational Science, 2017 OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing ...
Alistair N. Ward +6 more
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Molecular analysis of the TCOF1 gene in Treacher Collins syndrome patients
, 2005 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
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Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson +2 more
wiley +1 more source
A quantitative method for defining high-arched palate using the Tcof1(+/-) mutant mouse as a model
, 2016 The palate functions as the roof of the mouth in mammals, separating the oral and nasal cavities. Its complex embryonic development and assembly poses unique susceptibilities to intrinsic and extrinsic disruptions.
Kurosaka, Hiroshi +5 more
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Investigation of TCOF1 Variations: An Insight to Treacher Collins Syndrome
, 2023 Treacher Collins Syndrome (TCS) is a genetic disease in which the development of facial bones and tissues is affected. It is very rare, affecting approximately one in every 50,000 people.
Jones, Alyssa, Ballard, Hunter
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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 +3 more
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Rodzinne występowanie zespołu Treachera Collinsa – opis 6 rodzin
Pediatria i Medycyna Rodzinna, 2009 Zaliczany do żuchwowo-twarzowych dyzostoz zespół Treachera Collinsa (TCS) jest autosomalnym dominującym zaburzeniem rozwoju czaszki twarzowej. Występuje w populacji ogólnej z częstością 1/50 000 żywych urodzeń.
Małgorzata Kot +2 more
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