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Mutation databases

Markers of epithelial-to-mesenchymal transition reflect tumor biology according to patient age and Gleason score in prostate cancer

Dorota Jędroszka, Magdalena Orzechowska, [ ... ], Andrzej K. Bednarek

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct

Christopher J. Lynch, Adam D. Cawte, [ ... ], David A. Lane

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, [ ... ], Bing-Wen Soong

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

Rachel A. Queen, Jannetta S. Steyn, Phillip Lord, Joanna L. Elson

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Bárbara Alemar, Cleandra Gregório, [ ... ], Patricia Ashton-Prolla

Genomic sequencing identifies a few mutations driving the independent origin of primary liver tumors in a chronic hepatitis murine model

Zuyu Yang, Mingming Jia, [ ... ], Shengdian Wang

Questioning the role of selected somatic PIK3C2B mutations in squamous non-small cell lung cancer oncogenesis

Marcus Kind, Jolanta Klukowska-Rötzler, [ ... ], Roch-Philippe Charles

Impact of annotation error in α-globin genes on molecular diagnosis

J. Francis Borgio

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels

Chan Joo Lee, Yunbeom Lee, [ ... ], Sang-Hak Lee

Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans

Ensel Oh, Hae Min Jeong, [ ... ], Young Kee Shin

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Clévia Rosset, Filippo Vairo, [ ... ], Patricia Ashton-Prolla

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels

Pi-Lin Sung, Kuo-Chang Wen, [ ... ], Chi-Ying F. Huang

The rare nonsense mutation in p53 triggers alternative splicing to produce a protein capable of inducing apoptosis

Evgeny M. Makarov, Tatyana A. Shtam, [ ... ], Michael V. Filatov

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