Results 251 to 260 of about 1,544,422 (378)

A unique case of late-onset CIPO caused by a missense mutation in the long isoform of <i>FLNA</i>. [PDF]

Front Genet
D'Amato I, Ganguzza E, Basilisco G, Strippoli A, Salvi E, Mehmeti E, Chiappori F, Devigili G, Vecchi M, Lauria G, Marchi M.   +10 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

A novel α-synuclein missense mutation in Parkinson disease

Neurology, 2013
C. Proukakis, Christopher G. Dudzik, T. Brier, D. Mackay, J. Cooper, G. Millhauser, H. Houlden, A. Schapira   +7 more
semanticscholar   +1 more source

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +1 more source

Destabilizing missense mutations in the tumour suppressor protein p53 enhance its ubiquitination in vitro and in vivo [PDF]

, 2006
Harumi Shimizu, David Saliba, Maura Wallace, Lee Finlan, Patrick R. R. Langridge‐Smith, Ted R. Hupp   +5 more
openalex   +1 more source

A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease. [PDF]

Sci Signal
Gauron MC, Prokopenko D, Lee S, Wolfe SA, Hecker J, Willett J, Waqas M, Lordén G, Yang Y, Mayfield JE, Castanho I, Mullin K, Morgan S, Hahn G, Demeo DL, Hide W, Bertram L, Lange C, Newton AC, Tanzi RE.   +19 more
europepmc   +1 more source

Supplementary Data S8 from Missense Mutations in <i>Myc Box I</i> Influence Nucleocytoplasmic Transport to Promote Leukemogenesis

Nancy B.J. Arthur, Keegan A. Christensen, Kathleen Mannino, Marianna B. Ruzinova, Ashutosh Kumar, Agata Gruszczyńska, Ryan B. Day, Petra Erdmann-Gilmore, Yiling Mi, Robert W. Sprung, Conner R. York, R. Reid Townsend, David H. Spencer, Stephen M. Sykes, Francesca Ferraro   +14 more
openalex   +1 more source

Additional file 24 of Selection signatures in tropical cattle are enriched for promoter and coding regions and reveal missense mutations in the damage response gene HELB

, 2020
Marina Naval-Sánchez, Laércio R. Porto-Neto, Diércles F. Cardoso, Ben J. Hayes, Hans D. Daetwyler, James Kijas, Antônio Reverter   +6 more
openalex   +1 more source

A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. [PDF]

Anim Genet
van der Graaf L, Leigh W, Szmatoła T, Roberts K, Ryan S, Brown B, Van Buren S, Finno CJ, Petersen JL.   +8 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source