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Mutation databases

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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High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome

Ivan Sergeevich Moiseev, Nikolay Yurevich Tcvetkov, Ildar Munerovich Barkhatov, Maria Vladimirovna Barabanshikova, Dmitrii Sergeevich Bug, Natalya Vitalievna Petuhova, Artem Valerievich Tishkov, Evgenyi Alexandrovich Bakin, Ekaterina Andreevna Izmailova, Alena Igorevna Shakirova, Alexandr Dmitrievich Kulagin, Elena Vladislavovna Morozova

published 17 Mar 2021

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Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira, Bárbara de Azevedo Abrahim Vieira, Joelma Freire De Mesquita

published 25 Feb 2021

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Gene expression profiling identifies FLT3 mutation-like cases in wild-type FLT3 acute myeloid leukemia

Adrián Mosquera Orgueira, Andrés Peleteiro Raíndo, Miguel Cid López, Beatriz Antelo Rodríguez, José Ángel Díaz Arias, Roi Ferreiro Ferro, Natalia Alonso Vence, Ángeles Bendaña López, Aitor Abuín Blanco, Laura Bao Pérez, Paula Melero Valentín, Marta Sonia González Pérez, Claudio Cerchione, Giovanni Martinelli, Pau Montesinos Fernández, Manuel Mateo Pérez Encinas, José Luis Bello López

published 16 Feb 2021

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors

Dadasaheb Akolkar, Darshana Patil, Navin Srivastava, Revati Patil, Vineet Datta, Sachin Apurwa, Nitin Yashwante, Raja Dhasarathan, Rahul Gosavi, Jinumary John, Shabishta Khan, Ninad Jadhav, Priti Mene, Dhanashri Ahire, Sushant Pawar, Harshal Bodke, Subhraline Sahoo, Arun Nile, Dinesh Saindane, Harshal Darokar, Pradip Devhare, Ajay Srinivasan, Rajan Datar

published 08 Feb 2021

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Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

published 22 Jan 2021

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Whole-genome sequence analysis and comparisons between drug-resistance mutations and minimum inhibitory concentrations of Mycobacterium tuberculosis isolates causing M/XDR-TB

Ditthawat Nonghanphithak, Orawee Kaewprasert, Pratchakan Chaiyachat, Wipa Reechaipichitkul, Angkana Chaiprasert, Kiatichai Faksri

published 31 Dec 2020

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Genetic diversity of SARS-CoV-2 and clinical, epidemiological characteristics of COVID-19 patients in Hanoi, Vietnam

Tam Thi Nguyen, Thach Ngoc Pham, Trang Dinh Van, Trang Thu Nguyen, Diep Thi Ngoc Nguyen, Hoa Nguyen Minh Le, John-Sebastian Eden, Rebecca J. Rockett, Thuong Thi Hong Nguyen, Bich Thi Ngoc Vu, Giang Van Tran, Tan Van Le, Dominic E. Dwyer, H. Rogier van Doorn, on behalf of the OUCRU COVID-19 Research Group

published 17 Nov 2020

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein

Francisco R. Fields, Niraja Suresh, Morgan Hiller, Stefan D. Freed, Kasturi Haldar, Shaun W. Lee

published 05 Nov 2020

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