Literature DB >> 27956217

Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.

Craig D Platt1, Michel J Massaad1, Brittney Cangemi1, Birgitta Schmidt1, Hasan Aldhekri2, Raif S Geha3.   

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Year:  2016        PMID： 27956217      PMCID： PMC5466846          DOI： 10.1016/j.jaci.2016.09.057

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.

Authors:  Alessia Scarselli; Silvia Di Cesare; Gigliola Di Matteo; Arianna De Matteis; Paola Ariganello; Maria Luisa Romiti; Simona Cascioli; Rita De Vito; Alice Bertaina; Franco Locatelli; H Bobby Gaspar; Alessandro Aiuti; Paolo Rossi; Kimberly Gilmour; Caterina Cancrini
Journal:  J Allergy Clin Immunol       Date:  2015-11-03       Impact factor: 10.793

Review 2.  Exposing synonymous mutations.

Authors:  Ryan C Hunt; Vijaya L Simhadri; Matthew Iandoli; Zuben E Sauna; Chava Kimchi-Sarfaty
Journal:  Trends Genet       Date:  2014-06-19       Impact factor: 11.639

3.  Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

Authors:  Yoshiyuki Matsumoto; Tatsuo Miyamoto; Hiromi Sakamoto; Hideki Izumi; Yuka Nakazawa; Tomoo Ogi; Hidetoshi Tahara; Shozo Oku; Azuma Hiramoto; Toshihide Shiiki; Yoshiki Fujisawa; Hirofumi Ohashi; Yoshihiro Sakemi; Shinya Matsuura
Journal:  DNA Repair (Amst)       Date:  2011-01-12

4.  A Synonymous Variant in IL10RA Affects RNA Splicing in Paediatric Patients with Refractory Inflammatory Bowel Disease.

Authors:  Seak Hee Oh; Jiwon Baek; Herty Liany; Jia Nee Foo; Kyung Mo Kim; Stephen Chang-Oh Yang; Jianjun Liu; Kyuyoung Song
Journal:  J Crohns Colitis       Date:  2016-05-13       Impact factor: 9.071

Review 5.  Inborn errors of human JAKs and STATs.

Authors:  Jean-Laurent Casanova; Steven M Holland; Luigi D Notarangelo
Journal:  Immunity       Date:  2012-04-20       Impact factor: 31.745

Review 6.  Cutaneous granulomas in the setting of primary immunodeficiency: a report of four cases and review of the literature.

Authors:  Joanna Harp; Kathleen Coggshall; Beth S Ruben; Francisco Ramírez-Valle; Steven Y He; Timothy G Berger
Journal:  Int J Dermatol       Date:  2015-03-13       Impact factor: 2.736

7.  Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

Authors:  Gene Yeo; Christopher B Burge
Journal:  J Comput Biol       Date:  2004       Impact factor: 1.479

Review 8.  Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies.

Authors:  Craig Platt; Raif S Geha; Janet Chou
Journal:  J Allergy Clin Immunol       Date:  2013-10-05       Impact factor: 10.793

9.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Authors:  François-Olivier Desmet; Dalil Hamroun; Marine Lalande; Gwenaëlle Collod-Béroud; Mireille Claustres; Christophe Béroud
Journal:  Nucleic Acids Res       Date:  2009-04-01       Impact factor: 16.971
  9 in total
  3 in total

Review 1.  Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.

Authors:  Michael Seleman; Rodrigo Hoyos-Bachiloglu; Raif S Geha; Janet Chou
Journal:  Front Immunol       Date:  2017-07-24       Impact factor: 7.561

2.  Acquired and Innate Immunity Impairment and Severe Disseminated Mycobacterium genavense Infection in a Patient With a NF-κB1 Deficiency.

Authors:  Luis Ignacio Gonzalez-Granado; Raquel Ruiz-García; Javier Blas-Espada; José Manuel Moreno-Villares; Marta Germán-Diaz; Marta López-Nevado; Estela Paz-Artal; Oscar Toldos; Yolanda Rodriguez-Gil; Jaime de Inocencio; Nerea Domínguez-Pinilla; Luis M Allende
Journal:  Front Immunol       Date:  2019-01-29       Impact factor: 7.561

3.  A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.

Authors:  Beau Sylvester; Frederick Brindopke; Akiko Suzuki; Melissa Giron; Allyn Auslander; Richard L Maas; Becky Tsai; Hanlin Gao; William Magee; Timothy C Cox; Pedro A Sanchez-Lara
Journal:  Genes (Basel)       Date:  2020-08-07       Impact factor: 4.096
  3 in total

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