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Mutation databases

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias

Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong

published 29 Nov 2017

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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

published 21 Nov 2017

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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, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D. Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla

published 21 Nov 2017

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

Zuyu Yang, Mingming Jia, Guojing Liu, Huaining Hao, Li Chen, Guanghao Li, Sixue Liu, Yawei Li, Chung-I Wu, Xuemei Lu, Shengdian Wang

published 08 Nov 2017

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

Marcus Kind, Jolanta Klukowska-Rötzler, Sabina Berezowska, Alexandre Arcaro, Roch-Philippe Charles

published 31 Oct 2017

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

J. Francis Borgio

published 19 Oct 2017

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

Chan Joo Lee, Yunbeom Lee, Sungha Park, Seok-Min Kang, Yangsoo Jang, Ji Hyun Lee, Sang-Hak Lee

published 16 Oct 2017

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

Ensel Oh, Hae Min Jeong, Mi Jeong Kwon, Sang Yun Ha, Hyung Kyu Park, Ji-Young Song, Yu Jin Kim, Jong-Sun Choi, Eun Hee Lee, Jeeyun Lee, Yoon-La Choi, Young Kee Shin

published 04 Oct 2017

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

Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I. C. F. Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla

published 02 Oct 2017

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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, Yi-Jen Chen, Ta-Chung Chao, Yi-Fang Tsai, Ling-Ming Tseng, Jian-Tai Timothy Qiu, Kuan-Chong Chao, Hua-Hsi Wu, Chi-Mu Chuang, Peng-Hui Wang, Chi-Ying F. Huang

published 29 Sep 2017

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

Evgeny M. Makarov, Tatyana A. Shtam, Roman A. Kovalev, Rimma A. Pantina, Elena Yu Varfolomeeva, Michael V. Filatov

published 29 Sep 2017

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SWI/SNF Infobase—An exclusive information portal for SWI/SNF remodeling complex subunits

Udayakumar Mani, Alagu Sankareswaran S., Arun Goutham R. N., Suma Mohan S.

published 29 Sep 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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