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Frameshift mutation

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage

Shiv Kumar Viswanathan, Heather K. Sanders, James W. McNamara, Aravindakshan Jagadeesan, Arshad Jahangir, A. Jamil Tajik, Sakthivel Sadayappan

published 09 Nov 2017

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Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion

Lee A. Albacker, Jeremy Wu, Peter Smith, Markus Warmuth, Philip J. Stephens, Ping Zhu, Lihua Yu, Juliann Chmielecki

published 09 Nov 2017

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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A. Caldwell, Rachel A. Policke, Esraa Aldkheil, Christopher E. Berndsen, Nathan T. Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino

published 26 Oct 2017

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Novel mutations in Darier disease and association to self-reported disease severity

Ivone U. S. Leong, Alexander Stuckey, Tara Ahanian, Martin Cederlöf, Jakob D. Wikstrom

published 13 Oct 2017

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Molecular subtype specific efficacy of MEK inhibitors in pancreatic cancers

Diána Brauswetter, Bianka Gurbi, Attila Varga, Edit Várkondi, Richárd Schwab, Gábor Bánhegyi, Orsolya Fábián, György Kéri, István Vályi-Nagy, István Peták

published 28 Sep 2017

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Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou

published 25 Sep 2017

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Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

Eric Weh, Hideyuki Takeuchi, Sanaa Muheisen, Robert S. Haltiwanger, Elena V. Semina

published 19 Sep 2017

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Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma

published 15 Sep 2017

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Direct and Inverted Repeat stimulated excision (DIRex): Simple, single-step, and scar-free mutagenesis of bacterial genes

Joakim Näsvall

published 30 Aug 2017

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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A. Kari, Mohamed A. Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K. Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, on behalf of The PodoNet Consortium

published 10 Aug 2017

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Systematic genomic and translational efficiency studies of uveal melanoma

Chelsea Place Johnson, Ivana K. Kim, Bita Esmaeli, Ali Amin-Mansour, Daniel J. Treacy, Scott L. Carter, Eran Hodis, Nikhil Wagle, Sara Seepo, Xiaoxing Yu, Anne Marie Lane, Evangelos S. Gragoudas, Francisca Vazquez, Elizabeth Nickerson, Kristian Cibulskis, Aaron McKenna, Stacey B. Gabriel, Gad Getz, Eliezer M. Van Allen, Peter A. C. ‘t Hoen, Levi A. Garraway, Scott E. Woodman

published 08 Jun 2017

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Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability

Jaime L. Stafford, Gregory Dyson, Nancy K. Levin, Sophia Chaudhry, Rita Rosati, Hasini Kalpage, Courtney Wernette, Nancie Petrucelli, Michael S. Simon, Michael A. Tainsky

published 07 Jun 2017

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai

published 02 Jun 2017

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