Results 111 to 120 of about 1,682 (175)

TCOF1 mutation affects the susceptibility to Hirschsprung's disease

Developmental Biology, 2011
Barlow, Amanda J., Trainor, Paul
openaire   +1 more source

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
core  

Peroxiredoxin 1 safeguards the nucleolar genome from oxidative damage. [PDF]

Sci Adv
Gujar V, Furusawa T, Sharma S, Boateng F, Li H, Achour C, Taniyama D, Kruhlak M, Pommier Y, Oberdoerffer S, Stracker TH, Weyemi U.   +11 more
europepmc   +1 more source

Active RNA synthesis patterns nuclear condensates. [PDF]

Cell Syst
Goychuk A, Banani SF, Natarajan P, Zheng MM, Wang H, Dall'Agnese G, Young RA, Kardar M, Henninger JE, Chakraborty AK.   +9 more
europepmc   +1 more source

Association of polymorphisms in genes HOXD1, TNP1, MSX1, TCOF1, FGFR1, COL2A1, WNT3 and TIMP3 with nonsyndromic cleft lip and/or palate in a Brazilian population

, 2018
Orientadores: Ricardo Della Coletta, Hercilio Martelli JuniorDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de PiracicabaResumo: O desenvolvimento craniofacial envolve uma série de eventos altamente coordenados e ...
Machado, Renato Assis, 1989-
core  

Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV. [PDF]

BMC Pregnancy Childbirth
Zhang X, Liu X, Duan L, Liu X, Chen Y, Feng X, Wang C.   +6 more
europepmc   +1 more source

Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families. [PDF]

Int J Mol Sci
Camarillo-Benitez S, Mendez-Catala CF, Chima-Galan MDC, Rivera-Yañez CR, Negrete-Torres N, Arrieta TA, Alcantara-Torres JR, Méndez-Cruz AR, Mendoza-Ramos MI, Tapia-Soto NI, Garrido E, Pedroza-Gonzalez A, Garcia-Romo GS, Reyes-Reali J, Soto-Rojas LO, Pozo-Molina G, Amato D.   +16 more
europepmc   +1 more source

Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing. [PDF]

J Clin Med
Marszałek-Kruk BA, Dowgierd K, Lejawa M, Kulesa-Mrowiecka M, Wolański W, Myśliwiec A, Lipowicz A.   +6 more
europepmc   +1 more source

Cooperation of transposable elements to endow global networks of initiators of hybrid assembly pathways of endogenous multiprotein complexes. [PDF]

Front Cell Infect Microbiol
Glinsky GV.
europepmc   +1 more source

CD14^- CD16⁺ monocyte PD-L1 prevents early tuberculosis progression and constrains reactivation under immune checkpoint therapy. [PDF]

Front Cell Infect Microbiol
Wang W, Liu C, Wu W, Yi Z, Shen J.
europepmc   +1 more source