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Missense mutation

Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association study

Xu Chen, Peina Du, Shuo Li, Xiaohong Wang, Mengyang Xu, Zhaobin Chu, Yue Zhang, Zhengyang Yao, Xuejie Huan, Yushan Huang, Mingyan Fang, Ya Gao, Guangyi Fan, Xin Jin, Hui Huang, Silin Pan

published 16 Jan 2026

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Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease

Juan A. De Pablo-Moreno, Leopoldo González-Brusi, Andrea Miguel-Batuecas, Pablo Bermejo-Álvarez, Luis Revuelta, Antonio Liras

published 02 Jun 2025

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Computational investigation of missense somatic mutations in cancer and potential links to pH-dependence and proteostasis

Shalaw Sallah, Jim Warwicker

published 19 Nov 2024

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Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans

Sungsoon Hwang, Se Woong Kang, Jong-Won Kim, Sang Jin Kim

published 07 Oct 2024

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Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Mihaly Badonyi, Joseph A. Marsh

published 22 Aug 2024

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Complete mitochondrial genomes of patients from Thailand with cardiovascular diseases

Wipada Woravatin, Rattanasak Wongkomonched, Wichittra Tassaneeyakul, Mark Stoneking, Pattarapong Makarawate, Wibhu Kutanan

published 11 Jul 2024

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GTExome: Modeling commonly expressed missense mutations in the human genome

Jill Hoffman, Henry Tan, Clara Sandoval-Cooper, Kaelyn de Villiers, Scott M. Reed

published 30 May 2024

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The tubulin database: Linking mutations, modifications, ligands and local interactions

Izra Abbaali, Danny Truong, Shania Deon Day, Faliha Mushayeed, Bhargavi Ganesh, Nancy Haro-Ramirez, Juliet Isles, Hindol Nag, Catherine Pham, Priya Shah, Ishaan Tomar, Carolina Manel-Romero, Naomi S. Morrissette

published 08 Dec 2023

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A Bayesian approach to estimate the probability of resistance to bedaquiline in the presence of a genomic variant

Degefaye Zelalem Anlay, Emmanuel Rivière, Pham Hien Trang Tu, Steven Abrams, Annelies Van Rie

published 14 Jun 2023

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Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor

published 29 Aug 2022

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PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients

Agnieszka Dansonka-Mieszkowska, Laura Aleksandra Szafron, Magdalena Kulesza, Anna Stachurska, Pawel Leszczynski, Agnieszka Tomczyk-Szatkowska, Piotr Sobiczewski, Joanna Parada, Mariusz Kulinczak, Joanna Moes-Sosnowska, Barbara Pienkowska-Grela, Jolanta Kupryjanczyk, Magdalena Chechlinska, Lukasz Michal Szafron

published 22 Jul 2022

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Detection of SARS-CoV-2 and the L452R spike mutation using reverse transcription loop-mediated isothermal amplification plus bioluminescent assay in real-time (RT-LAMP-BART)

Takahiro Iijima, Shinnosuke Ando, Dai Kanamori, Kazumichi Kuroda, Tsutomu Nomura, Laurence Tisi, Paul E. Kilgore, Neil Percy, Hikaru Kohase, Satoshi Hayakawa, Mitsuko Seki, Tomonori Hoshino

published 21 Mar 2022

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Survival of bladder or renal cancer in patients with CHEK2 mutations

Elżbieta Złowocka-Perłowska, Tadeusz Dębniak, Marcin Słojewski, Thierry van de Wetering, Aleksandra Tołoczko-Grabarek, Cezary Cybulski, Rodney J. Scott, Jan Lubiński

published 09 Sep 2021

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