Literature DB >> 27016801

A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.

Petra Netter1, Sanny K Chan2, Pinaki P Banerjee1, Linda Monaco-Shawver3, Lenora M Noroski1, Imelda C Hanson1, Lisa R Forbes1, Emily M Mace1, Javier Chinen1, H Bobby Gaspar4, Patrick Sleiman3, Hakon Hakonarson3, Christoph Klein5, Mohammad S Ehlayel6, Jordan S Orange7.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27016801      PMCID： PMC4976026          DOI： 10.1016/j.jaci.2015.12.1337

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


× No keyword cloud information.
  6 in total

1.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.

Authors:  G Ménasché; E Pastural; J Feldmann; S Certain; F Ersoy; S Dupuis; N Wulffraat; D Bianchi; A Fischer; F Le Deist; G de Saint Basile
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.

Authors:  Maaike Neeft; Marnix Wieffer; Arjan S de Jong; Gabriela Negroiu; Corina H G Metz; Alexander van Loon; Janice Griffith; Jeroen Krijgsveld; Nico Wulffraat; Henriette Koch; Albert J R Heck; Nils Brose; Monique Kleijmeer; Peter van der Sluijs
Journal:  Mol Biol Cell       Date:  2004-11-17       Impact factor: 4.138

3.  A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport.

Authors:  Molly Strom; Alistair N Hume; Abul K Tarafder; Eleni Barkagianni; Miguel C Seabra
Journal:  J Biol Chem       Date:  2002-04-29       Impact factor: 5.157

4.  Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4.

Authors:  Mickaël M Ménager; Gaël Ménasché; Maryse Romao; Perrine Knapnougel; Chen-Hsuan Ho; Mériem Garfa; Graça Raposo; Jérôme Feldmann; Alain Fischer; Geneviève de Saint Basile
Journal:  Nat Immunol       Date:  2007-01-21       Impact factor: 25.606

5.  Human immunodeficiency-causing mutation defines CD16 in spontaneous NK cell cytotoxicity.

Authors:  Jennifer T Grier; Lisa R Forbes; Linda Monaco-Shawver; Jennifer Oshinsky; T Prescott Atkinson; Curtis Moody; Rahul Pandey; Kerry S Campbell; Jordan S Orange
Journal:  J Clin Invest       Date:  2012-09-24       Impact factor: 14.808

6.  Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.

Authors:  Valentina Cetica; Yvonne Hackmann; Samantha Grieve; Elena Sieni; Benedetta Ciambotti; Maria Luisa Coniglio; Daniela Pende; Kimberly Gilmour; Paolo Romagnoli; Gillian M Griffiths; Maurizio Aricò
Journal:  J Allergy Clin Immunol       Date:  2014-10-11       Impact factor: 10.793
  6 in total
  11 in total

Review 1.  Lysosome-related organelles as functional adaptations of the endolysosomal system.

Authors:  Cédric Delevoye; Michael S Marks; Graça Raposo
Journal:  Curr Opin Cell Biol       Date:  2019-06-22       Impact factor: 8.382

Review 2.  Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.

Authors:  Emily M Mace; Jordan S Orange
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

Review 3.  Exome and genome sequencing for inborn errors of immunity.

Authors:  Isabelle Meyts; Barbara Bosch; Alexandre Bolze; Bertrand Boisson; Yuval Itan; Aziz Belkadi; Vincent Pedergnana; Leen Moens; Capucine Picard; Aurélie Cobat; Xavier Bossuyt; Laurent Abel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2016-10       Impact factor: 10.793

4.  Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Authors:  Parul Sharma; Abhinav Jain; Vinod Scaria
Journal:  Front Genet       Date:  2021-05-13       Impact factor: 4.599

5.  Rab27a/Slp2-a complex is involved in Schwann cell myelination.

Authors:  Wen-Feng Su; Yun Gu; Zhong-Ya Wei; Yun-Tian Shen; Zi-Han Jin; Ying Yuan; Xiao-Song Gu; Gang Chen
Journal:  Neural Regen Res       Date:  2016-11       Impact factor: 5.135

6.  A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

Authors:  Bianca Tesi; Jelena Rascon; Samuel C C Chiang; Birute Burnyte; Alexandra Löfstedt; Anders Fasth; Miriam Heizmann; Sandra Juozapaite; Rosita Kiudeliene; Egle Kvedaraite; Valdone Miseviciene; Audrone Muleviciene; Martha-Lena Müller; Magnus Nordenskjöld; Reda Matuzeviciene; Ruta Samaitiene; Carsten Speckmann; Sigita Stankeviciene; Vytautas Zekas; Matthias Voss; Stephan Ehl; Nerija Vaiciene-Magistris; Jan-Inge Henter; Marie Meeths; Yenan T Bryceson
Journal:  J Allergy Clin Immunol       Date:  2018-03-06       Impact factor: 10.793

Review 7.  Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.

Authors:  Samuel Cern Cher Chiang; Jack J Bleesing; Rebecca A Marsh
Journal:  Front Immunol       Date:  2019-07-23       Impact factor: 7.561

8.  Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.

Authors:  Lisa R Forbes; Olive S Eckstein; Nitya Gulati; Erin C Peckham-Gregory; Nmazuo W Ozuah; Joseph Lubega; Nader K El-Mallawany; Jennifer E Agrusa; M Cecilia Poli; Tiphanie P Vogel; Natalia S Chaimowitz; Nicholas L Rider; Emily M Mace; Jordan S Orange; Jason W Caldwell; Juan C Aldave-Becerra; Stephen Jolles; Francesco Saettini; Hey J Chong; Asbjorg Stray-Pedersen; Helen E Heslop; Kala Y Kamdar; R Helen Rouce; Donna M Muzny; Shalini N Jhangiani; Richard A Gibbs; Zeynep H Coban-Akdemir; James R Lupski; Kenneth L McClain; Carl E Allen; Ivan K Chinn
Journal:  J Allergy Clin Immunol       Date:  2021-07-28       Impact factor: 10.793

9.  Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Authors:  Ivan K Chinn; Olive S Eckstein; Erin C Peckham-Gregory; Baruch R Goldberg; Lisa R Forbes; Sarah K Nicholas; Emily M Mace; Tiphanie P Vogel; Harshal A Abhyankar; Maria I Diaz; Helen E Heslop; Robert A Krance; Caridad A Martinez; Trung C Nguyen; Dalia A Bashir; Jordana R Goldman; Asbjørg Stray-Pedersen; Luis A Pedroza; M Cecilia Poli; Juan C Aldave-Becerra; Sean A McGhee; Waleed Al-Herz; Aghiad Chamdin; Zeynep H Coban-Akdemir; Shalini N Jhangiani; Donna M Muzny; Tram N Cao; Diana N Hong; Richard A Gibbs; James R Lupski; Jordan S Orange; Kenneth L McClain; Carl E Allen
Journal:  Blood       Date:  2018-04-09       Impact factor: 25.476

10.  Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.

Authors:  Jia Zhang; Yuan Sun; Xiaodong Shi; Rui Zhang; Yini Wang; Juan Xiao; Jing Cao; Zhuo Gao; Jingshi Wang; Lin Wu; Wei Wei; Zhao Wang
Journal:  Orphanet J Rare Dis       Date:  2020-05-06       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.