Results 181 to 190 of about 771,131 (233)

Selection On synonymous Mutations Revealed by 1135 Genomes of Arabidopsis thaliana. [PDF]

Evol Bioinform Online, 2020
Wei L.
europepmc   +1 more source

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
This systematic overview highlights communication impairment as a defining feature of Rett syndrome, with expressive language consistently affected more severely than receptive language and social ability. Across the literature, most studies rely on caregiver‐reported measures, with relatively few employing direct or objective measurements of speech ...
Lucas N. Raniolo, Ruth O. Braden, Jana von Hehn, John Christodoulou, David N. Lieberman, David J. Amor, Adam P. Vogel   +6 more
wiley   +1 more source

Correction to 'Synonymous mutations in essential genes infrequently produce fitness effects in human cell lines'. [PDF]

Nucleic Acids Res
europepmc   +1 more source

Repeat-induced point mutations driving Parastagonospora nodorum genomic diversity are balanced by selection against non-synonymous mutations. [PDF]

Commun Biol
Jones DAB, Rybak K, Hossain M, Bertazzoni S, Williams A, Tan KC, Phan HTT, Hane JK.   +7 more
europepmc   +1 more source

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
wiley   +1 more source

The abnormal splicing regulation network caused by synonymous mutations in FBN1 exon 39 leads to Marfan syndrome. [PDF]

Genes Dis
Wu F, Li M, Zhou X, Wang Q, Wu Y.
europepmc   +1 more source

Behavioural Diversity of Fishes: Concepts, Drivers and Its Role in Conservation and Management

Fish and Fisheries, EarlyView.
ABSTRACT Human activity has altered nearly all ecosystems on Earth, contributing to substantial biodiversity loss across taxonomic, genetic and functional dimensions, from the intraspecific to the ecosystem scale. Yet some components of biodiversity remain hidden or underappreciated, including behavioural diversity.
Marie Prchalová, Robert Arlinghaus, Samuel Westrelin, Ivan Jarić, Michael G. Bertram, Josep Alós, Henrik Baktoft, Jack A. Brand, Tomas Brodin, Adolfo Cordero‐Rivera, Carlina Feldmann, Ryo Futamura, Stefan Hont, Pascal Klamser, Cecilie Iden Nilsen, Johann Mourier, Karl Øystein Gjelland, Esben Moland Olsen, Polona Pengal, Rubén Rabaneda‐Bueno, Milan Říha, Theresa Rueger, Holger Schielzeth, Marco Signaroli, Marija Smederevac‐Lalić, Christopher T. Monk   +25 more
wiley   +1 more source

Blocking protein quality control degradation leads to structural stabilization of DHFR indel variants

The FEBS Journal, EarlyView.
Blocking protein quality control degradation by deleting the E3 ligases Ubr1 or San1 stabilizes many DHFR insertion and deletion variants that are otherwise partially unfolded. These hypomorphic variants regain folding at lower temperatures or upon methotrexate binding, revealing that PQC degradation can remove proteins that are still functionally ...
Sven Larsen‐Ledet, Caroline H. Suhr, Sarah Gersing, Celeste M. Hackney, Amelie Stein, Kaare Teilum, Rasmus Hartmann‐Petersen   +6 more
wiley   +1 more source

Convergent mutations underpin the repeated evolution of brown plumage in seabirds

Ibis, EarlyView.
Recent genetic data have provided crucial insights into the evolution of animal colour phenotypes, with the melanocortin‐1 receptor (MC1R) frequently implicated in dramatic colour shifts. However, the extent to which similar phenotypes are underpinned by convergent mutations at this locus remains unclear.
Shanshan Shen, Graham A. McCulloch, Tania M. King, Nicolas J. Rawlence, Martyn Kennedy, Jonathan M. Waters   +5 more
wiley   +1 more source

Word Associations in a Minoritised Language: The Case of Cymraeg (Welsh)

International Journal of Applied Linguistics, EarlyView.
ABSTRACT As with many research strands in linguistics, word association (WA) literature is dominated by English language data. This paper (i) explores the extent to which methodologies developed to date are applicable to other languages—specifically, Welsh (Cymraeg)—and (ii) investigates what WA analysis can reveal about lexical organisation and ...
Tess Fitzpatrick, Steve Morris, Theodore Mills   +2 more
wiley   +1 more source