Results 211 to 220 of about 239,120 (310)

Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study. [PDF]

BMC Cancer
Lee JH, Lee HY, Park JE, Kim MJ, Hwang DW, Chong S, Kim M, Lee JY, Song C, Lee BH.   +9 more
europepmc   +1 more source

Computational analysis of missense mutations in squalene epoxidase associated with terbinafine resistance in clinically reported dermatophytes. [PDF]

Sci Rep
Mahmood HR, Shams-Ghahfarokhi M, Razzaghi-Abyaneh M.   +2 more
europepmc   +1 more source

Mapping protein–protein interactions by mass spectrometry

Mass Spectrometry Reviews, EarlyView.
Abstract Protein–protein interactions (PPIs) are essential for numerous biological activities, including signal transduction, transcription control, and metabolism. They play a pivotal role in the organization and function of the proteome, and their perturbation is associated with various diseases, such as cancer, neurodegeneration, and infectious ...
Xiaonan Liu, Lawrence Abad, Lopamudra Chatterjee, Ileana M. Cristea, Markku Varjosalo   +4 more
wiley   +1 more source

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy. [PDF]

Orphanet J Rare Dis
Li D, Shi Y, Sun H, Yan C, Lin Y.
europepmc   +1 more source

Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics. [PDF]

Int J Mol Sci
Visibelli A, Finetti R, Niccolai P, Trezza A, Spiga O, Santucci A, Niccolai N.   +6 more
europepmc   +1 more source

Functional characterization of all <i>CDKN2A</i> missense variants and comparison to in silico models of pathogenicity. [PDF]

Elife
Kimura H, Lahouel K, Tomasetti C, Roberts NJ.   +3 more
europepmc   +1 more source

Novel missense and frameshift mutations in the adrenoleukodystrophy gene [PDF]

Japanese Journal of Human Genetics, 1996
Iwao Ohkubo, Morimi Shimada, Hisao Ueyama, Tsunekazu Yamano   +3 more
openaire   +3 more sources

<i>DICER1</i> Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center. [PDF]

Cancers (Basel)
Manea S, Fincke VE, Frühwald MC, Sturm D, von Zezschwitz B, Johann PD, Mucha M.   +6 more
europepmc   +1 more source

Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA‐CESNE Cohort

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Mutations in progranulin (GRN) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients. Cases We report three subjects from the PADUA‐CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55.
Giulia Bonato, Marta Campagnolo, Aron Emmi, Valentina Misenti, Tommaso Carrer, Carmelo Fogliano, Leonardo Salviati, Miryam Carecchio, Angelo Antonini   +8 more
wiley   +1 more source

Molecular Profiling of Nasopharyngeal Carcinoma Using the AACR Project GENIE Repository. [PDF]

Cancers (Basel)
Hsia B, Sure A, Dongre R, Jo N, Kuzniar J, Bitar G, Alshaka SA, Kim JD, Valencia-Sanchez BA, Brandel MG, Sato M, Crawford JR, Levy ML, Polster SP, Patel VA.   +14 more
europepmc   +1 more source