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Mutation databases

Profiling of the most reliable mutations from sequenced SARS-CoV-2 genomes scattered in Uzbekistan

Mirzakamol S. Ayubov, Zabardast T. Buriev, Mukhammadjon K. Mirzakhmedov, Abdurakhmon N. Yusupov, Dilshod E. Usmanov, Shukhrat E. Shermatov, Khurshida A. Ubaydullaeva, Ibrokhim Y. Abdurakhmonov

published 31 Mar 2022

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Amyloid fibril composition type is consistent over time in patients with Val30Met (p.Val50Met) transthyretin amyloidosis

Intissar Anan, Ole B. Suhr, Katarzyna Liszewska, Jorge Mejia Baranda, Björn Pilebro, Jonas Wixner, Elisabet Ihse

published 31 Mar 2022

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Autophagy characteristics and establishment of autophagy prognostic models in lung adenocarcinoma and lung squamous cell carcinoma

Zhubei Chen, Hui Xiong, Hao Shen, Qingsheng You

published 25 Mar 2022

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dbGSRV: A manually curated database of genetic susceptibility to respiratory virus

Ping Li, Yan Zhang, Wenlong Shen, Shu Shi, Zhihu Zhao

published 17 Mar 2022

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Coronavirus Resistance Database (CoV-RDB): SARS-CoV-2 susceptibility to monoclonal antibodies, convalescent plasma, and plasma from vaccinated persons

Philip L. Tzou, Kaiming Tao, Sergei L. Kosakovsky Pond, Robert W. Shafer

published 09 Mar 2022

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Whole genome sequence analysis showing unique SARS-CoV-2 lineages of B.1.524 and AU.2 in Malaysia

Ummu Afeera Zainulabid, Aini Syahida Mat Yassim, Mushtaq Hussain, Ayesha Aslam, Sharmeen Nellisa Soffian, Mohamad Shafiq Mohd Ibrahim, Norhidayah Kamarudin, Mohd Nazli Kamarulzaman, How Soon Hin, Hajar Fauzan Ahmad

published 25 Feb 2022

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ASPICov: An automated pipeline for identification of SARS-Cov2 nucleotidic variants

Valentin Tilloy, Pierre Cuzin, Laura Leroi, Emilie Guérin, Patrick Durand, Sophie Alain

published 26 Jan 2022

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Analysis of coding variants in the human FTO gene from the gnomAD database

Mauro Lúcio Ferreira Souza Junior, Jaime Viana de Sousa, João Farias Guerreiro

published 06 Jan 2022

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A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function

Felix P. Sanchez Klose, Halla Björnsdottir, Agnes Dahlstrand Rudin, Tishana Persson, Arsham Khamzeh, Martina Sundqvist, Sara Thorbert-Mros, Régis Dieckmann, Karin Christenson, Johan Bylund

published 21 Dec 2021

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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel

published 20 Oct 2021

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Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis

Tsukasa Osaki, Masayoshi Souri, Akitada Ichinose

published 10 Sep 2021

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Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger

published 09 Jul 2021

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Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools

Boiketlo Sebate, Katelyn Cuttler, Ruben Cloete, Marcell Britz, Alan Christoffels, Monique Williams, Jonathan Carr, Soraya Bardien

published 26 Mar 2021

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