Literature DB >> 27900855

A new type of syndromic albinism associated with mutations in AP3D1.

Lluis Montoliu, Michael S Marks.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27900855      PMCID： PMC5555751          DOI： 10.1111/pcmr.12543

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


× No keyword cloud information.
  6 in total

Review 1.  Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.

Authors:  Ai-Hua Wei; Wei Li
Journal:  Pigment Cell Melanoma Res       Date:  2012-12-31       Impact factor: 4.693

2.  Do you have to be albino to be albino?

Authors:  Lluis Montoliu; Robert N Kelsh
Journal:  Pigment Cell Melanoma Res       Date:  2014-02-24       Impact factor: 4.693

3.  The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Authors:  Birthe Jessen; Sebastian F N Bode; Sandra Ammann; Subarna Chakravorty; Graham Davies; Jana Diestelhorst; Melissa Frei-Jones; William A Gahl; Bernadette R Gochuico; Matthias Griese; Gillian Griffiths; Gritta Janka; Christoph Klein; Tamara Kögl; Karin Kurnik; Kai Lehmberg; Andrea Maul-Pavicic; Andrew D Mumford; David Pace; Nima Parvaneh; Nima Rezaei; Geneviève de Saint Basile; Annette Schmitt-Graeff; Klaus Schwarz; Gulsun T Karasu; Barbara Zieger; Udo Zur Stadt; Peter Aichele; Stephan Ehl
Journal:  Blood       Date:  2013-02-12       Impact factor: 22.113

Review 4.  Increasing the complexity: new genes and new types of albinism.

Authors:  Lluís Montoliu; Karen Grønskov; Ai-Hua Wei; Mónica Martínez-García; Almudena Fernández; Benoît Arveiler; Fanny Morice-Picard; Saima Riazuddin; Tamio Suzuki; Zubair M Ahmed; Thomas Rosenberg; Wei Li
Journal:  Pigment Cell Melanoma Res       Date:  2013-10-17       Impact factor: 4.693

Review 5.  Lysosome-related organelles: unusual compartments become mainstream.

Authors:  Michael S Marks; Harry F G Heijnen; Graça Raposo
Journal:  Curr Opin Cell Biol       Date:  2013-05-29       Impact factor: 8.382

6.  BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers.

Authors:  Megan K Dennis; Cédric Delevoye; Amanda Acosta-Ruiz; Ilse Hurbain; Maryse Romao; Geoffrey G Hesketh; Philip S Goff; Elena V Sviderskaya; Dorothy C Bennett; J Paul Luzio; Thierry Galli; David J Owen; Graça Raposo; Michael S Marks
Journal:  J Cell Biol       Date:  2016-08-01       Impact factor: 10.539
  6 in total
  3 in total

1.  Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Authors:  Helen J Kuht; Gail D E Maconachie; Jinu Han; Line Kessel; Maria M van Genderen; Rebecca J McLean; Michael Hisaund; Zhanhan Tu; Richard W Hertle; Karen Gronskov; Dayong Bai; Aihua Wei; Wei Li; Yonghong Jiao; Vasily Smirnov; Jae-Hwan Choi; Martin D Tobin; Viral Sheth; Ravi Purohit; Basu Dawar; Ayesha Girach; Sasha Strul; Laura May; Fred K Chen; Rachael C Heath Jeffery; Abdullah Aamir; Ronaldo Sano; Jing Jin; Brian P Brooks; Susanne Kohl; Benoit Arveiler; Lluis Montoliu; Elizabeth C Engle; Frank A Proudlock; Garima Nishad; Prateek Pani; Girish Varma; Irene Gottlob; Mervyn G Thomas
Journal:  Ophthalmology       Date:  2022-02-11       Impact factor: 14.277

Review 2.  Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans.

Authors:  Sam J Neuffer; Cynthia D Cooper
Journal:  Cancers (Basel)       Date:  2022-03-30       Impact factor: 6.639

3.  The Value of Mouse Models of Rare Diseases: A Spanish Experience.

Authors:  Silvia Murillo-Cuesta; Rafael Artuch; Fernando Asensio; Pedro de la Villa; Mara Dierssen; Jose Antonio Enríquez; Cristina Fillat; Stéphane Fourcade; Borja Ibáñez; Lluis Montoliu; Eduardo Oliver; Aurora Pujol; Eduardo Salido; Mario Vallejo; Isabel Varela-Nieto
Journal:  Front Genet       Date:  2020-10-14       Impact factor: 4.599
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.