Literature DB >> 22461475

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Raffaele Badolato, Alberto Prandini, Sonia Caracciolo, Francesca Colombo, Giovanna Tabellini, Mauro Giacomelli, Maria E Cantarini, Andrea Pession, Callum J Bell, Darrell L Dinwiddie, Neil A Miller, Shannon L Hateley, Carol J Saunders, Lu Zhang, Gary P Schroth, Alessandro Plebani, Silvia Parolini, Stephen F Kingsmore.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22461475     DOI： 10.1182/blood-2012-01-404350

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


× No keyword cloud information.
  24 in total

Review 1.  Natural killer cell deficiency.

Authors:  Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2013-09       Impact factor: 10.793

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.  The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Authors:  Shanna L Bowman; Jing Bi-Karchin; Linh Le; Michael S Marks
Journal:  Traffic       Date:  2019-06       Impact factor: 6.215

4.  Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Authors:  Melanie M Bryan; Nathanial J Tolman; Karen L Simon; Marjan Huizing; Robert B Hufnagel; Brian P Brooks; Vladislav Speransky; James C Mullikin; William A Gahl; May Christine V Malicdan; Bernadette R Gochuico
Journal:  Mol Genet Metab       Date:  2017-02-27       Impact factor: 4.797

5.  Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Authors:  Sairah Yousaf; Mohsin Shahzad; Tasleem Kausar; Shakeel A Sheikh; Nabeela Tariq; Asra S Shabbir; Muhammad Ali; Ali M Waryah; Rehan S Shaikh; Saima Riazuddin; Zubair M Ahmed
Journal:  Pigment Cell Melanoma Res       Date:  2015-12-18       Impact factor: 4.693

6.  Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.

Authors:  Darrell L Dinwiddie; Laurie D Smith; Neil A Miller; Andrea M Atherton; Emily G Farrow; Meghan E Strenk; Sarah E Soden; Carol J Saunders; Stephen F Kingsmore
Journal:  Genomics       Date:  2013-04-28       Impact factor: 5.736

Review 7.  Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.

Authors:  Cortnie Hartwig; William J Monis; Xun Chen; Dion K Dickman; Gregory J Pazour; Victor Faundez
Journal:  Dev Neurobiol       Date:  2017-10-13       Impact factor: 3.964

Review 8.  A research-driven approach to the identification of novel natural killer cell deficiencies affecting cytotoxic function.

Authors:  Michael T Lam; Emily M Mace; Jordan S Orange
Journal:  Blood       Date:  2020-02-27       Impact factor: 22.113

Review 9.  Hermansky-Pudlak Syndrome.

Authors:  Souheil El-Chemaly; Lisa R Young
Journal:  Clin Chest Med       Date:  2016-06-30       Impact factor: 2.878

10.  Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.

Authors:  Darrell L Dinwiddie; Stephen F Kingsmore; Sonia Caracciolo; Giuseppe Rossi; Daniele Moratto; Cinzia Mazza; Cristiano Sabelli; Rosa Bacchetta; Laura Passerini; Chiara Magri; Callum J Bell; Neil A Miller; Shannon L Hateley; Carol J Saunders; Lu Zhang; Gary P Schroth; Sergio Barlati; Raffaele Badolato
Journal:  J Allergy Clin Immunol       Date:  2013-02       Impact factor: 10.793
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.