Literature DB >> 32417998

The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.

Helen C Su1, Jordan S Orange2.   

Abstract

Several recent studies provide valuable new information that expands the spectrum of human disease associated with mutations in CDC42.

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Year:  2020        PMID： 32417998      PMCID： PMC7335263          DOI： 10.1007/s10875-020-00785-8

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


  10 in total

1.  Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.

Authors:  Giorgia Bucciol; Bethany Pillay; Jose Casas-Martin; Selket Delafontaine; Marijke Proesmans; Natalie Lorent; Johan Coolen; Thomas Tousseyn; Xavier Bossuyt; Cindy S Ma; Rik Schrijvers; Stuart G Tangye; Leen Moens; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2020-01-18       Impact factor: 8.317

Review 2.  Signaling role of Cdc42 in regulating mammalian physiology.

Authors:  Jaime Melendez; Matthew Grogg; Yi Zheng
Journal:  J Biol Chem       Date:  2010-11-29       Impact factor: 5.157

3.  Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition.

Authors:  Yael Gernez; Adriana A de Jesus; Hanouf Alsaleem; Claudia Macaubas; Amitava Roy; Daniel Lovell; Karthik A Jagadeesh; Sara Alehashemi; Laura Erdman; Michael Grimley; Susanna Talarico; Rosa Bacchetta; David B Lewis; Scott W Canna; Ron M Laxer; Elizabeth D Mellins; Raphaela Goldbach-Mansky; Katja G Weinacht
Journal:  J Allergy Clin Immunol       Date:  2019-07-02       Impact factor: 10.793

4.  Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

Authors:  Toshiki Takenouchi; Rika Kosaki; Takahiro Niizuma; Kenichiro Hata; Kenjiro Kosaki
Journal:  Am J Med Genet A       Date:  2015-08-06       Impact factor: 2.802

5.  Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Authors:  Simone Martinelli; Oliver H F Krumbach; Francesca Pantaleoni; Simona Coppola; Ehsan Amin; Luca Pannone; Kazem Nouri; Luciapia Farina; Radovan Dvorsky; Francesca Lepri; Marcel Buchholzer; Raphael Konopatzki; Laurence Walsh; Katelyn Payne; Mary Ella Pierpont; Samantha Schrier Vergano; Katherine G Langley; Douglas Larsen; Kelly D Farwell; Sha Tang; Cameron Mroske; Ivan Gallotta; Elia Di Schiavi; Matteo Della Monica; Licia Lugli; Cesare Rossi; Marco Seri; Guido Cocchi; Lindsay Henderson; Berivan Baskin; Mariëlle Alders; Roberto Mendoza-Londono; Lucie Dupuis; Deborah A Nickerson; Jessica X Chong; Naomi Meeks; Kathleen Brown; Tahnee Causey; Megan T Cho; Stephanie Demuth; Maria Cristina Digilio; Bruce D Gelb; Michael J Bamshad; Martin Zenker; Mohammad Reza Ahmadian; Raoul C Hennekam; Marco Tartaglia; Ghayda M Mirzaa
Journal:  Am J Hum Genet       Date:  2018-01-25       Impact factor: 11.025

6.  A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome.

Authors:  Bahia Bekhouche; Aurore Tourville; Yamini Ravichandran; Rachida Tacine; Laurence Abrami; Michael Dussiot; Andrea Khau-Dancasius; Olivia Boccara; Meriem Khirat; Marianne Mangeney; Florent Dingli; Damarys Loew; Batiste Boëda; Pénélope Jordan; Thierry Jo Molina; Nathalia Bellon; Sylvie Fraitag; Smail Hadj-Rabia; Stéphane Blanche; Anne Puel; Sandrine Etienne-Manneville; F Gisou van der Goot; Jacqueline Cherfils; Olivier Hermine; Jean-Laurent Casanova; Christine Bodemer; Asma Smahi; Jérôme Delon
Journal:  J Allergy Clin Immunol       Date:  2020-04-10       Impact factor: 10.793

7.  A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

Authors:  Midori Motokawa; Satoshi Watanabe; Akiko Nakatomi; Tatsuro Kondoh; Tadashi Matsumoto; Kanako Morifuji; Hirotake Sawada; Toyoki Nishimura; Hiroyuki Nunoi; Koh-Ichiro Yoshiura; Hiroyuki Moriuchi; Sumito Dateki
Journal:  J Hum Genet       Date:  2018-01-15       Impact factor: 3.172

8.  Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

Authors:  Toshiki Takenouchi; Nobuhiko Okamoto; Shinobu Ida; Tomoko Uehara; Kenjiro Kosaki
Journal:  Am J Med Genet A       Date:  2015-12-28       Impact factor: 2.802

9.  A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Authors:  Michael T Lam; Simona Coppola; Oliver H F Krumbach; Giusi Prencipe; Antonella Insalaco; Mohammad R Ahmadian; Jordan S Orange; Fabrizio De Benedetti; Marco Tartaglia; Cristina Cifaldi; Immacolata Brigida; Erika Zara; Serena Scala; Silvia Di Cesare; Simone Martinelli; Martina Di Rocco; Antonia Pascarella; Marcello Niceta; Francesca Pantaleoni; Andrea Ciolfi; Petra Netter; Alexandre F Carisey; Michael Diehl; Mohammad Akbarzadeh; Francesca Conti; Pietro Merli; Anna Pastore; Stefano Levi Mortera; Serena Camerini; Luciapia Farina; Marcel Buchholzer; Luca Pannone; Tram N Cao; Zeynep H Coban-Akdemir; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; Luca Basso-Ricci; Maria Chiriaco; Radovan Dvorsky; Lorenza Putignani; Rita Carsetti; Petra Janning; Asbjorg Stray-Pedersen; Hans Christian Erichsen; AnnaCarin Horne; Yenan T Bryceson; Lamberto Torralba-Raga; Kim Ramme; Vittorio Rosti; Claudia Bracaglia; Virginia Messia; Paolo Palma; Andrea Finocchi; Franco Locatelli; Ivan K Chinn; James R Lupski; Emily M Mace; Caterina Cancrini; Alessandro Aiuti
Journal:  J Exp Med       Date:  2019-10-10       Impact factor: 14.307

10.  A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.

Authors:  Aleksandra Szczawinska-Poplonyk; Rafal Ploski; Ewa Bernatowska; Malgorzata Pac
Journal:  Front Immunol       Date:  2020-03-13       Impact factor: 7.561
  10 in total
  6 in total

1.  Novel engineered, membrane-tethered VEGF-A variants promote formation of filopodia, proliferation, survival, and cord or tube formation by endothelial cells via persistent VEGFR2/ERK signaling and activation of CDC42/ROCK pathways.

Authors:  Junhui Shen; Franco Aparecido Rossato; Issahy Cano; Yin Shan Eric Ng
Journal:  FASEB J       Date:  2021-12       Impact factor: 5.191

2.  Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.

Authors:  Paria Kashani; Ashish Marwaha; Stephen Feanny; Vy Hong-Diep Kim; Adelle R Atkinson; Matilde Leon-Ponte; Roberto Mendoza-Londono; Eyal Grunebaum
Journal:  Immunol Res       Date:  2021-01-06       Impact factor: 2.829

Review 3.  Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.

Authors:  Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Lucia Leonardi; Francesco La Torre; Silvia Federici; Stefania Corrente; Bianca Laura Cinicola; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale
Journal:  World Allergy Organ J       Date:  2021-02-22       Impact factor: 4.084

Review 4.  SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?

Authors:  Vanessa Sancho-Shimizu; Petter Brodin; Aurélie Cobat; Catherine M Biggs; Julie Toubiana; Carrie L Lucas; Sarah E Henrickson; Alexandre Belot; Stuart G Tangye; Joshua D Milner; Michael Levin; Laurent Abel; Dusan Bogunovic; Jean-Laurent Casanova; Shen-Ying Zhang
Journal:  J Exp Med       Date:  2021-06-07       Impact factor: 14.307

5.  CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.

Authors:  Sujan Ravendran; Sabina Sánchez Hernández; Saskia König; Rasmus O Bak
Journal:  Front Genome Ed       Date:  2022-03-17

Review 6.  Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18.

Authors:  Hanae Miyazawa; Taizo Wada
Journal:  Front Immunol       Date:  2022-07-25       Impact factor: 8.786
  6 in total

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