Results 221 to 230 of about 103,106 (291)

Mito_Plot: open-source pipeline for quantification and visualization of mitochondrial DNA heteroplasmy. [PDF]

BMC Bioinformatics
Nakamura K, Matsumoto N, Okazaki Y.
europepmc   +1 more source

MAF+ and business plans

Report on the development of MAF+. This report includes the business plans for 20-30 innovations at the end of the project.
openaire   +1 more source

A News-based Composite Climate Risk Index

Guardabascio, B., Segneri, L, Fronzetti Colladon, A., Figa'-Talamanca, Gianna   +3 more
core  

PTEN homozygous deletion is a negative prognostic factor in tumor treating fields‐treated glioblastoma, IDH wildtype patients

Brain Pathology, EarlyView.
In a molecularly confirmed cohort of 64 newly diagnosed, TTFields‐treated glioblastomas, IDH‐wildtype, homozygous PTEN deletion was associated with markedly shorter overall survival (368 vs. 603 days) and remained an independent adverse prognostic factor.
Jakob Nückles, Claudius Jelgersma, Christin Siewert, Brendan Osberg, Simone Schmid, Arend Koch, Eilís Perez, Daniel Teichmann, Martin Misch, Anna‐Gila Karbe, Susanne Ukrow, Patrick N. Harter, Ruth M. Stassart, Peter Vajkoczy, Julia Onken, David Capper   +15 more
wiley   +1 more source

Methods to detect selection history in a population under ongoing directional selection. [PDF]

Genetics
Jansen ACM, Calus MPL, Wientjes YCJ.
europepmc   +1 more source

CmDREBa regulates the perennial growth habit of chrysanthemum in response to prolonged chilling. [PDF]

Nat Commun
Jiang T, Liu X, Luo J, Liu L, Liu Y, Han M, Huang C, Luo C, Zhao Y, Ma C.   +9 more
europepmc   +1 more source

Assessing the impact of climate and environmental news on financial markets

Guardabascio, B., Segneri, L, Fronzetti Colladon, A., Patacca, M., Figa'-Talamanca, Gianna   +4 more
core  

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

Clinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma, Neta Barnoy, Prakadeeswari Gopalakrishnan, Keren Dichter, Rotem Mizrachi, Manar Salameh, Eyal Banin, Dror Sharon, Adi Inbal, Samer Khateb   +9 more
wiley   +1 more source

Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)

Clinical Genetics, EarlyView.
A three‐year‐old girl with attenuated protein‐losing enteropathy carried compound‐heterozygous missense PLVAP variants inherited from unaffected non‐consanguineous parents. The case supports residual PLVAP function in missense‐associated DIAR10 and expands its genetic and clinical spectrum.
Jana Zídková, Dagmar Procházková, Petra Konečná, Kamila Réblová, Tereza Kramářová, Johana Kopčilová, Magdaléna Soukup Vodičková, Romana Borská, Lenka Fajkusová   +8 more
wiley   +1 more source

Genetic architectures of brain-related traits are shaped by strong selective constraints. [PDF]

Proc Natl Acad Sci U S A
Zhu H, Simons YB, Spence JP, Sella G, Pritchard JK.   +4 more
europepmc   +1 more source