Results 31 to 40 of about 747,509 (280)

Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1

Molecular Therapy: Nucleic Acids, 2023
Neurofibromatosis type 1 (NF1) results from germline mutations in the tumor-suppressor gene NF1 and predisposes patients to developing nervous system tumors.
Sara H. Osum, Eunice I. Oribamise, Stanislas M.A.S. Corbière, Mandy Taisto, Tyler Jubenville, Alex Coutts, Mark N. Kirstein, James Fisher, Christopher Moertel, Ming Du, David Bedwell, David A. Largaespada, Adrienne L. Watson   +12 more
doaj   +1 more source

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Sarah Hohmann, Hanspeter Goldschmidt, Hohmann, Sarah, Thomas Gudermann, Remschmidt, Helmut, Geller, Frank, Wolfgang Siegfried, Hebebrand, Johannes, Schäfer, Helmut, Anke Hinney, Siegfried, Wolfgang, Brokamp, Britta, Hess, Claudia, Hinney, Anke, Wermter, Anne-Kathrin, Goldschmidt, Hanspeter, Frank Geller, Constanze Vogel, Johannes Hebebrand, Britta Brokamp, Vogel, Constanze, Helmut Remschmidt, Gudermann, Thomas, Claudia Hess, Anne-kathrin Wermter   +24 more
core   +1 more source

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection

Molecular Genetics & Genomic Medicine, 2020
Background Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin‐1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype–phenotype and aortic events (
Shijun Xu, Lei Li, Yuwei Fu, Xin Wang, Hairui Sun, Jianbin Wang, Lu Han, Zining Wu, Yongmin Liu, Junming Zhu, Lizhong Sun, Feng Lan, Yihua He, Hongjia Zhang   +13 more
doaj   +1 more source

Identification of Novel Rare ABCC1 Transporter Mutations in Tumor Biopsies of Cancer Patients

Cells, 2020
The efficiency of chemotherapy drugs can be affected by ATP-binding cassette (ABC) transporter expression or by their mutation status. Multidrug resistance is linked with ABC transporter overexpression.
Onat Kadioglu, Mohamed Saeed, Markus Munder, Andreas Spuller, Henry Johannes Greten, Thomas Efferth   +5 more
doaj   +1 more source

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization [PDF]

, 2012
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity ...
Gileadi, Opher, Cooper, Christopher D O, Twigg, SR, Beales, PL, McGowan, SJ, Gileadi, O, Jenkins, Dagan, Lloyd, D, Gillessen-Kaesbach, G, Hüning, I, Elçioglu, Nursel E., Hüning, Irina, Wilkie, Andrew O.M., Twigg, Stephen R F, Annagür, Ali, Knight, Samantha, Goodship, JA, Knight, Samantha J L, Cooper, CD, Gillessen-Kaesbach, Gabriele, Jenkins, D, Knight, Samantha J.L., Knight, SJ, Wilkie, AOM, McGowan, Simon J., Twigg, SRF, Beales, Philip L., Lloyd, Deborah, Wilkie, Andrew O M, Al-Sannaa, N, Al-Sannaa, Nouriya, Annagür, A, Twigg, Stephen R.F., Keavney, Bernard D., Knight, SJL, Cooper, CDO, Cooper, Christopher D.O., Elçioglu, NE, Goodship, Judith A., Keavney, BD, Wilkie, AO, Twigg, Stephen R. F., Elçioglu, Nurse E., ELÇİOĞLU, HURİYE NURSEL, J.L. Knight, Samantha, Cooper, Christopher D. O.   +45 more
core   +1 more source

Targeting translational read-through of premature termination mutations in with PTC124 for pulmonary arterial hypertension

Pulmonary Circulation, 2020
Pulmonary arterial hypertension is a fatal disorder of the lung circulation in which accumulation of vascular cells progressively obliterates the pulmonary arterioles. This results in sustained elevation in pulmonary artery pressure leading eventually to
Lu Long, Xudong Yang, Mark Southwood, Stephen Moore, Alexi Crosby, Paul D. Upton, Benjamin J. Dunmore, Nicholas W. Morrell   +7 more
doaj   +1 more source

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability [PDF]

, 2014
Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism1.
Baralle, Diana, Tatton-Brown, Katrina, Silvana del Vecchio Duarte, Katrina Tatton-Brown, Sheila Seal, Jenny Harmer, Dabir, Tabib, Diana Baralle, Seal, Sheila, Ramsay, Emma, Robert van Montfort, Goudie, David, Lise Aksglaede, Van Maldergem, Lionel, Selicorni, Angelo, Yachelevich, Naomi, Ajith Kumar, Pilz, Daniela T, Temple, I. Karen, Blanca Gener, Eleanor O'Brien, Zachariou, Anna, Aksglaede, Lise, Angelo Selicorni, Anna Zachariou, David Goudie, Temple, Karen I., Lionel Van Maldergem, Nazneen Rahman, Elise Ruark, del Vecchio Duarte, Silvana, Kumar, Ajith, Harmer, Jenny, I Karen Temple, Gener, Blanca, van Montfort, Robert, Sandra Hanks, Pilz, Daniela T., Hanks, Sandra, Temple, I Karen, Tessa Homfray, Tabib Dabir, O'Brien, Eleanor, Emma Ramsay, Ruark, Elise, Homfray, Tessa, Daniela T Pilz, Rahman, Nazneen, Naomi Yachelevich   +48 more
core   +1 more source

Novel compounds that synergize with aminoglycoside G418 or eRF3 degraders for translational readthrough of nonsense mutant TP53 and PTEN

RNA Biology, 2023
The TP53 and PTEN tumour suppressor genes are inactivated by nonsense mutations in a significant fraction of human tumours. TP53 nonsense mutant tumours account for approximately one million new cancer cases per year worldwide.
Angelos Heldin, Matko Cancer, Mireia Palomar-Siles, Susanne Öhlin, Meiqiongzi Zhang, Alexander Sun-Zhang, Anna Mariani, Jianping Liu, Vladimir J.N. Bykov, Klas G. Wiman   +9 more
doaj   +1 more source

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

PLoS ONE, 2020
A nonsense mutation adds a premature stop signal that hinders any further translation of a protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions, we used the DMD gene as an ideal model.
Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca Del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro   +9 more
doaj   +1 more source

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Haematologica, 2010
Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene.
Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay   +8 more
doaj   +1 more source