Literature DB >> 32146551

Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP.

Laine M Hosking1, Alex Quach2, Charlotte A Slade3, Melanie A Galea4, Stephanie Richards5, Sharon Choo5, Antonio Ferrante2,6.   

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Year:  2020        PMID: 32146551     DOI: 10.1007/s10875-020-00768-9

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN: 0271-9142            Impact factor:   8.317


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  7 in total

1.  Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics: Analysis of 30,769 Genotypes.

Authors:  Jonatan Blais; Sébastien B Lavoie; Sylvie Giroux; Johanne Bussières; Carmen Lindsay; Jacqueline Dionne; Mélissa Laroche; Yves Giguère; François Rousseau
Journal:  J Mol Diagn       Date:  2015-07-03       Impact factor: 5.568

2.  STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Authors:  Frank L van de Veerdonk; Theo S Plantinga; Alexander Hoischen; Sanne P Smeekens; Leo A B Joosten; Christian Gilissen; Peer Arts; Diana C Rosentul; Andrew J Carmichael; Chantal A A Smits-van der Graaf; Bart Jan Kullberg; Jos W M van der Meer; Desa Lilic; Joris A Veltman; Mihai G Netea
Journal:  N Engl J Med       Date:  2011-06-29       Impact factor: 91.245

3.  A partial form of recessive STAT1 deficiency in humans.

Authors:  Ariane Chapgier; Xiao-Fei Kong; Stéphanie Boisson-Dupuis; Emmanuelle Jouanguy; Diana Averbuch; Jacqueline Feinberg; Shen-Ying Zhang; Jacinta Bustamante; Guillaume Vogt; Julien Lejeune; Eleonore Mayola; Ludovic de Beaucoudrey; Laurent Abel; Dan Engelhard; Jean-Laurent Casanova
Journal:  J Clin Invest       Date:  2009-05-11       Impact factor: 14.808

4.  Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Authors:  Julie Toubiana; Satoshi Okada; Julia Hiller; Matias Oleastro; Macarena Lagos Gomez; Juan Carlos Aldave Becerra; Marie Ouachée-Chardin; Fanny Fouyssac; Katta Mohan Girisha; Amos Etzioni; Joris Van Montfrans; Yildiz Camcioglu; Leigh Ann Kerns; Bernd Belohradsky; Stéphane Blanche; Aziz Bousfiha; Carlos Rodriguez-Gallego; Isabelle Meyts; Kai Kisand; Janine Reichenbach; Ellen D Renner; Sergio Rosenzweig; Bodo Grimbacher; Frank L van de Veerdonk; Claudia Traidl-Hoffmann; Capucine Picard; Laszlo Marodi; Tomohiro Morio; Masao Kobayashi; Desa Lilic; Joshua D Milner; Steven Holland; Jean-Laurent Casanova; Anne Puel
Journal:  Blood       Date:  2016-04-25       Impact factor: 22.113

5.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Authors:  Luyan Liu; Satoshi Okada; Xiao-Fei Kong; Alexandra Y Kreins; Sophie Cypowyj; Avinash Abhyankar; Julie Toubiana; Yuval Itan; Magali Audry; Patrick Nitschke; Cécile Masson; Beata Toth; Jérome Flatot; Mélanie Migaud; Maya Chrabieh; Tatiana Kochetkov; Alexandre Bolze; Alessandro Borghesi; Antoine Toulon; Julia Hiller; Stefanie Eyerich; Kilian Eyerich; Vera Gulácsy; Ludmyla Chernyshova; Viktor Chernyshov; Anastasia Bondarenko; Rosa María Cortés Grimaldo; Lizbeth Blancas-Galicia; Ileana Maria Madrigal Beas; Joachim Roesler; Klaus Magdorf; Dan Engelhard; Caroline Thumerelle; Pierre-Régis Burgel; Miriam Hoernes; Barbara Drexel; Reinhard Seger; Theresia Kusuma; Annette F Jansson; Julie Sawalle-Belohradsky; Bernd Belohradsky; Emmanuelle Jouanguy; Jacinta Bustamante; Mélanie Bué; Nathan Karin; Gizi Wildbaum; Christine Bodemer; Olivier Lortholary; Alain Fischer; Stéphane Blanche; Saleh Al-Muhsen; Janine Reichenbach; Masao Kobayashi; Francisco Espinosa Rosales; Carlos Torres Lozano; Sara Sebnem Kilic; Matias Oleastro; Amos Etzioni; Claudia Traidl-Hoffmann; Ellen D Renner; Laurent Abel; Capucine Picard; László Maródi; Stéphanie Boisson-Dupuis; Anne Puel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2011-07-04       Impact factor: 14.307

6.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

7.  Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1.

Authors:  Felipe Carneiro Silva; Giovana Tardin Torrezan; Rafael Canfield Brianese; Raquel Stabellini; Dirce Maria Carraro
Journal:  Mol Genet Genomic Med       Date:  2017-05-11       Impact factor: 2.183

  7 in total

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