Results 81 to 90 of about 332,161 (328)

Cross-species examination of X-chromosome inactivation highlights domains of escape from silencing

Epigenetics & Chromatin, 2021
Background X-chromosome inactivation (XCI) in eutherian mammals is the epigenetic inactivation of one of the two X chromosomes in XX females in order to compensate for dosage differences with XY males.
Bradley P. Balaton, Oriol Fornes, Wyeth W. Wasserman, Carolyn J. Brown   +3 more
doaj   +1 more source

Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence. [PDF]

, 2018
To determine the role for mutations of MECP2 in Rett syndrome, we generated isogenic lines of human induced pluripotent stem cells, neural progenitor cells, and neurons from patient fibroblasts with and without MECP2 expression in an attempt to ...
Allen, Denise, Chronis, Contantinos, Cinkornpumin, Jessica, Fu, Kai, Germanguz, Igal, Korsakova, Elena, Kuoy, Edward, Langerman, Justin, Lee, Peiyee, Lowry, William E, Ohashi, Minori, Park, Jenny C, Pellegrini, Matteo, Plath, Kathrin, Salas, Carlos, Tran, Stephen, Vargas, Benni S, Xiao, Xinshu   +17 more
core   +2 more sources

Reduced vascular leakage correlates with breast carcinoma T regulatory cell infiltration but not with metastatic propensity

Molecular Oncology, EarlyView.
A mouse model for vascular normalization and a human breast cancer cohort were studied to understand the relationship between vascular leakage and tumor immune suppression. For this, endothelial and immune cell RNAseq, staining for vascular function, and immune cell profiling were employed.
Liqun He, Chiara Testini, Neda Hekmati, Altea Bonello, Aglaia Schiza, Emmanuel Nwadozi, Mia Phillipson, Carina Strell, Michael Welsh   +8 more
wiley   +1 more source

A YY1 Bridge for X Inactivation

Cell, 2011
Xist RNA inactivates one mammalian X chromosome (the Xi) by associating with it in cis. The mechanism of this interaction is unresolved. Jeon and Lee (2011) now show that YY1 binds both Xist RNA and DNA, thereby providing a mechanism to anchor Xist to the Xi and facilitate X chromosome inactivation.
Thorvaldsen, Joanne L., Weaver, Jamie R., Bartolomei, Marisa S.   +2 more
openaire   +2 more sources

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
core   +3 more sources

Class IIa HDACs forced degradation allows resensitization of oxaliplatin‐resistant FBXW7‐mutated colorectal cancer

Molecular Oncology, EarlyView.
HDAC4 is degraded by the E3 ligase FBXW7. In colorectal cancer, FBXW7 mutations prevent HDAC4 degradation, leading to oxaliplatin resistance. Forced degradation of HDAC4 using a PROTAC compound restores drug sensitivity by resetting the super‐enhancer landscape, reprogramming the epigenetic state of FBXW7‐mutated cells to resemble oxaliplatin ...
Vanessa Tolotto, Nicolò Gualandi, Ylenia Cortolezzis, Raffaella Picco, Monica Colitti, Francesca D'Este, Mariachiara Gani, Wayne W. Hancock, Giovanni Terrosu, Cristina Degrassi, Francesca Agostini, Claudio Brancolini, Luigi E. Xodo, Eros Di Giorgio   +13 more
wiley   +1 more source

Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons [PDF]

, 2011
In mammalian females, one of the two X chromosomes is inactivated in early embryonic life. Females are therefore mosaics for two cell populations, one with the maternal and one with the paternal X as the active X chromosome.
Christensen, Kaare, Christiansen, Lene, Mengel-From, Jonas, Orstavik, Karen Helene, Thinggaard, Mikael, Vaupel, James W   +5 more
core   +1 more source

Dual targeting of RET and SRC synergizes in RET fusion‐positive cancer cells

Molecular Oncology, EarlyView.
Despite the strong activity of selective RET tyrosine kinase inhibitors (TKIs), resistance of RET fusion‐positive (RET+) lung cancer and thyroid cancer frequently occurs and is mainly driven by RET‐independent bypass mechanisms. Son et al. show that SRC TKIs significantly inhibit PAK and AKT survival signaling and enhance the efficacy of RET TKIs in ...
Juhyeon Son, Lily L. Remsing Rix, Bin Fang, Eric A. Welsh, Nicole V. Bremer, Valentina Foglizzo, Paola Roa, Nickole Sigcha‐Coello, Yi Liao, Eric B. Haura, Alexander Drilon, John M. Koomen, Emiliano Cocco, Uwe Rix   +13 more
wiley   +1 more source

Characterization of a rare analphoid supernumerary marker chromosome in mosaic [PDF]

, 2015
publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA.
Alves, C., Amorim, M., Brito, F., Correia, H., Ferreira, C., Marques, B., Pedro, S.   +6 more
core  

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source