Results 51 to 60 of about 606,407 (214)

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

Journal of Ovarian Research, 2019
Background Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged  A) associated with POI was identified by whole-exome sequencing.
Jing Zhe, Shiling Chen, Xin Chen, Yudong Liu, Ying Li, Xingyu Zhou, Jun Zhang   +6 more
doaj   +1 more source

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

Molecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu, Nicolas J. Niklaus, Anna M. Schläfli, Igor Tokarchuk, Magali Humbert, Federico La Manna, Bich Vu, David Maul, Ramin Radpour, Marianna Kruithof‐de Julio, Inti Zlobec, Jörn Dengjel, Bruce E. Torbett, Mario P. Tschan   +13 more
wiley   +1 more source

Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype

Cell Reports, 2018
Summary: Most genes mutated in microcephaly patients are expressed ubiquitously, and yet the brain is the only major organ compromised in most patients. Why the phenotype remains brain specific is poorly understood.
Attya Omer Javed, Yun Li, Julien Muffat, Kuan-Chung Su, Malkiel A. Cohen, Tenzin Lungjangwa, Patrick Aubourg, Iain M. Cheeseman, Rudolf Jaenisch   +8 more
doaj   +1 more source

Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro [PDF]

Royal Society Open Science, 2019
The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product.
Jonathan Cook, Elizabeth de Wolf, Nicholas Dale   +2 more
doaj   +1 more source

Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]

, 2010
Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Srirangalingam, U, David, A, Metherell, LA, Khoo, B, Clark, AJL   +4 more
core  

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies [PDF]

, 2008
Background: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing.
McCauley, J, A. Ferlini, Martoni Elena, Cecilia Trabanelli, Ashton Emma, Ciccone, R, S. Abbs, Elena Bassi, Venturoli A, F. Muntoni, Emma Ashton, Rimessi P, Brioschi S, Neri M, Venturoli, A, Elena Martoni, Bovolenta, M, McCauley J, M. Neri, Trabanelli Cecilia, Maria S Falzarano, McCauley Joanne, Ferlini Alessandra, Muntoni Francesco, J. McCauley, Fabris M, CICCONE, ROBERTO, Merlini Luciano, Gualandi, F, Shu Yau, Yau S, Martoni, E, Paola Rimessi, Yau Shu, M. S. Falzarano, E. Martoni, Venturoli Anna, Ferlini, A, Luciano Merlini, Merlini L, Brioschi Simona, Spitali, P, Falzarano Maria S, Ciccone Roberto, Martoni E, Anna Venturoli, Spitali P, Abbs S, Marina Fabris, Sergio Fini, Abbs, S, Bassi E, Ferlini A., Ashton E, E. Bassi, Merlini, L, C. Trabanelli, Fini Sergio, M. Bovolenta, Roberto Ciccone, Fini, S, Yau, S, M. Fabris, Ashton, E, Alessandra Ferlini, L. Merlini, S. Fini, E. Ashton, Muntoni, F, Rimessi, P, Simona Brioschi, P. Rimessi, F. Gualandi, Francesco Muntoni, Brioschi, S, Neri, M, Matteo Bovolenta, Marcella Neri, Gualandi F, Bassi, E, Falzarano MS, Pietro Spitali, P. Spitali, S. Yau, Fabris, M, Abbs Stephen, S. Brioschi, Trabanelli C, Falzarano, MS, Fabris Marina, A. Venturoli, Spitali Pietro, Stephen Abbs, Francesca Gualandi, Bassi Elena, Muntoni F, Trabanelli, C, Bovolenta Matteo, Bovolenta M, Gualandi Francesca, Joanne McCauley, Neri Marcella, Rimessi Paola, Fini S   +103 more
core   +1 more source

Splicing-associated epitopes and immune therapy response.

, 2021
(A) Distribution of the number of tumor-specific splicing-derived neoepitopes (splicing-epitopes) and splicing-affected self-epitopes that would be depleted in the altered isoform (self-epitopes) using ≤500nM to define candidate epitopes, separated by ...
Judith Pérez-Granado (11442479), Juan L. Trincado (11442473), Ferran Sanz (89706), Marina Reixachs-Solé (11442476), Tim Fugmann (11442482), Eduardo Eyras (3024), Jun Yokota (133873)   +6 more
core   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

Identifying differential exon splicing using linear models and correlation coefficients [PDF]

, 2009
Background: With the availability of the Affymetrix exon arrays a number of tools have been developed to enable the analysis. These however can be expensive or have several pre-installation requirements.
Pallas Jacqueline A, Shah, SH, Shah Sonia H, Sonia H Shah, Jacqueline A Pallas, Shah, Sonia H., Pallas, JA, Pallas, Jacqueline A.   +7 more
core   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source