Results 141 to 150 of about 4,156 (218)

OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.

The EMBO journal, 2012
Mutations in the phosphatidylinositol 4,5-bisphosphate (PtdIns4,5P(2)) 5-phosphatase OCRL cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, and renal proximal tubular dysfunction. Previous studies have shown that OCRL interacts with components of the endosomal machinery; however, its role in endocytosis, and thus ...
Mariella, Vicinanza, Antonella, Di Campli, Elena, Polishchuk, Michele, Santoro, Giuseppe, Di Tullio, Anna, Godi, Elena, Levtchenko, Maria Giovanna, De Leo, Roman, Polishchuk, Lisette, Sandoval, Maria-Paz, Marzolo, Maria Antonietta, De Matteis   +11 more
openaire   +1 more source

Crystal structure of human INPP5K with an allosteric inhibitor reveals the structural basis for species specific potency. [PDF]

Sci Rep
Nomura A, Yamaguchi K, Kawano M, Hanada K, Nishihata J, Noguchi M, Adachi T.   +6 more
europepmc   +1 more source

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]

, 2015

core   +1 more source

Calibration of the Ames Anechoic Facility. Phase 1: Short range plan [PDF]

A calibration was made of the acoustic and aerodynamic characteristics of a small, open-jet wind tunnel in an anechoic room. The jet nozzle was 102 mm diameter and was operated subsonically. The anechoic-room dimensions were 7.6 m by 5.5 m by 3.4 m high (
Hickey, D., Hopkins, R., Karamcheti, K., Koutsoyannis, S. P., Mclachlan, B., Soderman, P. T.   +5 more
core   +1 more source

MODELING OPERATING RATE DECISIONS IN THE CANADIAN FOREST INDUSTRIES [PDF]

This article examines the problem of characterizing production structures when there is input fixity but fixed inputs can be utilized with varying intensities.
Constantino, Luis, Townsend, Gary
core   +1 more source

Differential MicroRNA Expression in Chronic Spontaneous Urticaria in Relation to Treatment Response. [PDF]

Allergy Asthma Immunol Res
Lee Y, Noh JY, Yoon J, Choi B, Kim J, Woo HG, Ye YM.   +6 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Del Prete D, Ceol M, Giannella A, Ceolotto G, Sgrò E, Priante G, Fedrigo M, Anglani F, Nalesso F.   +8 more
europepmc   +1 more source

Report drawn up on behalf of the Committee on the Environment, Public Health and Consumer Protection on the proposal from the Commission of the European Communities to the Council (Doc. 282/77) for a recommendation on the fluorocarbons in the environment. EP Working Documents 1977-1978, Document 417/77. 7 December 1977 [PDF]

, 1977
Jahn, H.E.
core  

Gene Selection for Multiclass Prediction by Weighted Fisher Criterion [PDF]

, 2007
Jianhua Xuan, Yue Wang, Yibin Dong, Yuanjian Feng, Bin Wang, Javed Khan, Maria Bakay, Zuyi Wang, Lauren Pachman, Sara Winokur, Yi-Wen Chen, Robert Clarke, Eric Hoffman   +12 more
core   +1 more source