Results 321 to 330 of about 805,782 (407)

Sec13 Shuttles between the Nucleus and the Cytoplasm and Stably Interacts with Nup96 at the Nuclear Pore Complex [PDF]

, 2003
Jost Enninga, Agata Levay, Beatriz M. A. Fontoura   +2 more
openalex   +1 more source

Chm7 and Heh1 collaborate to link nuclear pore complex quality control with nuclear envelope sealing

EMBO Journal, 2016
Brant M. Webster, David J. Thaller, J. Jäger, Sarah E. Ochmann, Sapan Borah, C. Lusk   +5 more
semanticscholar   +1 more source

Comprehensive end‐to‐end dosimetry audit for stereotactic body radiotherapy in spine, lung, and soft tissue

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Purpose To create and conduct a comprehensive onsite end‐to‐end dosimetry audit to assess treatment accuracy of spine, lung, and soft tissue Stereotactic Body Radiotherapy (SBRT) across Australian and New Zealand (ANZ) radiotherapy centers. Methods The Australian Clinical Dosimetry Service (ACDS) anthropomorphic thorax phantom underwent a CT ...
Maddison Shaw, Andrew Alves, Jessica Lye, Joerg Lehmann, Fayz Kadeer, Sabeena Beveridge, Nicholas Hardcastle, Moshi Geso, Rhonda Brown   +8 more
wiley   +1 more source

Slide-and-exchange mechanism for rapid and selective transport through the nuclear pore complex

Proceedings of the National Academy of Sciences of the United States of America, 2016
Barak Raveh, J. Karp, Samuel E. Sparks, K. Dutta, M. Rout, A. Sali, D. Cowburn   +6 more
semanticscholar   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Experimental/computational approach of the nuclear pore complex mechanics [PDF]

, 2016
Fedele, R., Garcia, A., Jacchetti, E., Marotta, R., Nava, M., Raimondi, M. T., Rodriguez Matas, J. F., Tunesi, M.   +7 more
core  

Single nucleotide variants in nuclear pore complex disassembly pathway associated with poor survival in osteosarcoma. [PDF]

Front Genet
Jacobs JE, Davis L, McWeeney S.
europepmc   +1 more source

Natively Unfolded FG Repeats Stabilize the Structure of the Nuclear Pore Complex

Cell, 2017
Evgeny A. Onischenko, Jeffrey H. Tang, K. R. Andersen, K. Knockenhauer, P. Vallotton, C. P. Derrer, Annemarie Kralt, C. Mugler, Leon Y. Chan, T. Schwartz, K. Weis   +10 more
semanticscholar   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source